Pediatrics

Researchers have identified pathogenic gene variations in 12% of cases of sudden unexplained death in children.

The new study, which involved 116 cases of sudden infant death syndrome or sudden unexplained deaths in children (SUDC), suggests that available methods of chromosome testing could be used to help screen for the conditions, which together account for roughly 1,800 fatalities a year in the United States.

“Even though the Back to Sleep campaign has been incredibly effective and safe sleep practices have been promoted for years, sudden unexplained death in pediatrics remains a leading cause of death for infants and children,” said Catherine Brownstein, MPH, PhD, of Boston Children’s Hospital, lead author of the new study.

The findings suggest that chromosomal microarray analysis (CMA), the method that the researchers used in the study, “should be considered in the genetic evaluation of SUDC,” Dr. Brownstein said. The approach is the first-line method of identifying conditions such as autism spectrum disorder, developmental disabilities, multiple congenital anomalies, and epilepsy, she noted.

In the study, published in Advanced Genetics, Dr. Brownstein and her colleagues used CMA to test genes from 116 deceased infants and toddlers up to age 28 months whose deaths were classified as SIDS or SUDC (the latter term applies to children older than 1 year).

The average age at the time of death was 5.7 months; 59% of the patients were boys. In 14 of the children (12%), the CMA test identified genetic variations in the form of deletions or duplications that were pathogenic (five cases) or uncertain but “favoring pathogenicity” (nine cases). Such deletions or duplications are known as copy number variants (CNVs).

CNVs are present in most people and are not necessarily associated with disease, according to the researchers. However, certain CNVs have been linked to ASD, attention-deficit/hyperactivity disorder, schizophrenia, Crohn’s disease, epilepsy, and various congenital abnormalities.

Dr. Brownstein’s group also compared pathogenicity in the SUDC group with that of a cohort of children with ASD and with healthy control persons. They found no significant difference in pathogenicity between SUDC and autism with regard to duplications. However, children in the SUDC group were significantly more likely to have higher pathogenicity scores for deletions, compared with control persons. Some of the CMVs did not appear connected to SIDS or SUDC; two cases in boys were undiagnosed cases of Klinefelter syndrome.

The study findings were limited by several factors, including the small sample size and the inability to conduct CMA analyses on parents or obtain family history, the researchers note. Other limitations were that phenotypic data were available only from autopsy material and medical records and that the study focused on younger children, the researchers add. They did not speculate about the causes of deaths in the other cases they examined.

In the current study, the other 88% of cases could involve nongenetic factors or genetic factors that aren’t measured by next-generation sequencing or chromosomal microarray, Dr. Brownstein said. “Undiagnosed disease programs looking for genetic causes for diseases in living patients identify a cause in about 1 in 4 cases,” she said. “While 12% is a modest percentage, the CNVs identified provide additional information. In the future, the goal would be to capture the full range of potential genetic changes.”

Previous research by Dr. Brownstein’s group at Robert’s Program, a clinical service for SUDC families at Boston Children’s Hospital, found genetic variants that might cause sudden death in children.

“We began this study with the simple question of whether, as a population, these children carry more copy number variation, which they do,” she said. “However, none of the CMA findings we identified are currently associated with SUDC, so much more investigation is necessary to find out if they are coincidental, risk factors, or causative.”

Looking ahead, she said, “Ideally, we would want every family affected by sudden unexplained death in pediatrics to have genetic testing, including a chromosomal microarray. Once we have more families enrolled and tested, we will be able to understand the risk factors for SIDS and SUDC much better.”

Benjamin Solomon, MD, clinical director at the National Human Genome Research Institute, Bethesda, Md., said the new research “may bring answers for individual situations as well as enable research to understand the overall biological underpinnings and causes of disease.”

The findings “help reinforce the heterogeneous nature of SUDC and related conditions,” Dr. Solomon said. “The results also highlight some of the challenges regarding how to interpret the possible clinical effects of genetic changes. That is, every person has genetic changes, and interpreting how certain genetic changes may or may not contribute to a disease or health care outcome can be challenging.”

Research is needed to understand not only the overall causes of SUDC but also how the different causes interact, Dr. Solomon said. “Eventually, better understanding of the causes could lead to knowledge that would enable interventions that could help prevent or reduce these devastating outcomes.”

The study was supported by the Robert’s Program on Sudden Unexplained Death in Pediatrics, the Jude Zayac Foundation, multiple grants from the Eunice Kennedy Shriver National Institutes of Health/National Institute of Child Health and Human Development, the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility (supported by the NIH/NICHD), and by the NIH National Institute of Mental Health. The researchers and Dr. Solomon have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Researchers have identified pathogenic gene variations in 12% of cases of sudden unexplained death in children.

The new study, which involved 116 cases of sudden infant death syndrome or sudden unexplained deaths in children (SUDC), suggests that available methods of chromosome testing could be used to help screen for the conditions, which together account for roughly 1,800 fatalities a year in the United States.

“Even though the Back to Sleep campaign has been incredibly effective and safe sleep practices have been promoted for years, sudden unexplained death in pediatrics remains a leading cause of death for infants and children,” said Catherine Brownstein, MPH, PhD, of Boston Children’s Hospital, lead author of the new study.

The findings suggest that chromosomal microarray analysis (CMA), the method that the researchers used in the study, “should be considered in the genetic evaluation of SUDC,” Dr. Brownstein said. The approach is the first-line method of identifying conditions such as autism spectrum disorder, developmental disabilities, multiple congenital anomalies, and epilepsy, she noted.

In the study, published in Advanced Genetics, Dr. Brownstein and her colleagues used CMA to test genes from 116 deceased infants and toddlers up to age 28 months whose deaths were classified as SIDS or SUDC (the latter term applies to children older than 1 year).

The average age at the time of death was 5.7 months; 59% of the patients were boys. In 14 of the children (12%), the CMA test identified genetic variations in the form of deletions or duplications that were pathogenic (five cases) or uncertain but “favoring pathogenicity” (nine cases). Such deletions or duplications are known as copy number variants (CNVs).

CNVs are present in most people and are not necessarily associated with disease, according to the researchers. However, certain CNVs have been linked to ASD, attention-deficit/hyperactivity disorder, schizophrenia, Crohn’s disease, epilepsy, and various congenital abnormalities.

Dr. Brownstein’s group also compared pathogenicity in the SUDC group with that of a cohort of children with ASD and with healthy control persons. They found no significant difference in pathogenicity between SUDC and autism with regard to duplications. However, children in the SUDC group were significantly more likely to have higher pathogenicity scores for deletions, compared with control persons. Some of the CMVs did not appear connected to SIDS or SUDC; two cases in boys were undiagnosed cases of Klinefelter syndrome.

The study findings were limited by several factors, including the small sample size and the inability to conduct CMA analyses on parents or obtain family history, the researchers note. Other limitations were that phenotypic data were available only from autopsy material and medical records and that the study focused on younger children, the researchers add. They did not speculate about the causes of deaths in the other cases they examined.

In the current study, the other 88% of cases could involve nongenetic factors or genetic factors that aren’t measured by next-generation sequencing or chromosomal microarray, Dr. Brownstein said. “Undiagnosed disease programs looking for genetic causes for diseases in living patients identify a cause in about 1 in 4 cases,” she said. “While 12% is a modest percentage, the CNVs identified provide additional information. In the future, the goal would be to capture the full range of potential genetic changes.”

Previous research by Dr. Brownstein’s group at Robert’s Program, a clinical service for SUDC families at Boston Children’s Hospital, found genetic variants that might cause sudden death in children.

“We began this study with the simple question of whether, as a population, these children carry more copy number variation, which they do,” she said. “However, none of the CMA findings we identified are currently associated with SUDC, so much more investigation is necessary to find out if they are coincidental, risk factors, or causative.”

Looking ahead, she said, “Ideally, we would want every family affected by sudden unexplained death in pediatrics to have genetic testing, including a chromosomal microarray. Once we have more families enrolled and tested, we will be able to understand the risk factors for SIDS and SUDC much better.”

Benjamin Solomon, MD, clinical director at the National Human Genome Research Institute, Bethesda, Md., said the new research “may bring answers for individual situations as well as enable research to understand the overall biological underpinnings and causes of disease.”

The findings “help reinforce the heterogeneous nature of SUDC and related conditions,” Dr. Solomon said. “The results also highlight some of the challenges regarding how to interpret the possible clinical effects of genetic changes. That is, every person has genetic changes, and interpreting how certain genetic changes may or may not contribute to a disease or health care outcome can be challenging.”

Research is needed to understand not only the overall causes of SUDC but also how the different causes interact, Dr. Solomon said. “Eventually, better understanding of the causes could lead to knowledge that would enable interventions that could help prevent or reduce these devastating outcomes.”

The study was supported by the Robert’s Program on Sudden Unexplained Death in Pediatrics, the Jude Zayac Foundation, multiple grants from the Eunice Kennedy Shriver National Institutes of Health/National Institute of Child Health and Human Development, the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility (supported by the NIH/NICHD), and by the NIH National Institute of Mental Health. The researchers and Dr. Solomon have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Researchers have identified pathogenic gene variations in 12% of cases of sudden unexplained death in children.

The new study, which involved 116 cases of sudden infant death syndrome or sudden unexplained deaths in children (SUDC), suggests that available methods of chromosome testing could be used to help screen for the conditions, which together account for roughly 1,800 fatalities a year in the United States.

“Even though the Back to Sleep campaign has been incredibly effective and safe sleep practices have been promoted for years, sudden unexplained death in pediatrics remains a leading cause of death for infants and children,” said Catherine Brownstein, MPH, PhD, of Boston Children’s Hospital, lead author of the new study.

The findings suggest that chromosomal microarray analysis (CMA), the method that the researchers used in the study, “should be considered in the genetic evaluation of SUDC,” Dr. Brownstein said. The approach is the first-line method of identifying conditions such as autism spectrum disorder, developmental disabilities, multiple congenital anomalies, and epilepsy, she noted.

In the study, published in Advanced Genetics, Dr. Brownstein and her colleagues used CMA to test genes from 116 deceased infants and toddlers up to age 28 months whose deaths were classified as SIDS or SUDC (the latter term applies to children older than 1 year).

The average age at the time of death was 5.7 months; 59% of the patients were boys. In 14 of the children (12%), the CMA test identified genetic variations in the form of deletions or duplications that were pathogenic (five cases) or uncertain but “favoring pathogenicity” (nine cases). Such deletions or duplications are known as copy number variants (CNVs).

CNVs are present in most people and are not necessarily associated with disease, according to the researchers. However, certain CNVs have been linked to ASD, attention-deficit/hyperactivity disorder, schizophrenia, Crohn’s disease, epilepsy, and various congenital abnormalities.

Dr. Brownstein’s group also compared pathogenicity in the SUDC group with that of a cohort of children with ASD and with healthy control persons. They found no significant difference in pathogenicity between SUDC and autism with regard to duplications. However, children in the SUDC group were significantly more likely to have higher pathogenicity scores for deletions, compared with control persons. Some of the CMVs did not appear connected to SIDS or SUDC; two cases in boys were undiagnosed cases of Klinefelter syndrome.

The study findings were limited by several factors, including the small sample size and the inability to conduct CMA analyses on parents or obtain family history, the researchers note. Other limitations were that phenotypic data were available only from autopsy material and medical records and that the study focused on younger children, the researchers add. They did not speculate about the causes of deaths in the other cases they examined.

In the current study, the other 88% of cases could involve nongenetic factors or genetic factors that aren’t measured by next-generation sequencing or chromosomal microarray, Dr. Brownstein said. “Undiagnosed disease programs looking for genetic causes for diseases in living patients identify a cause in about 1 in 4 cases,” she said. “While 12% is a modest percentage, the CNVs identified provide additional information. In the future, the goal would be to capture the full range of potential genetic changes.”

Previous research by Dr. Brownstein’s group at Robert’s Program, a clinical service for SUDC families at Boston Children’s Hospital, found genetic variants that might cause sudden death in children.

“We began this study with the simple question of whether, as a population, these children carry more copy number variation, which they do,” she said. “However, none of the CMA findings we identified are currently associated with SUDC, so much more investigation is necessary to find out if they are coincidental, risk factors, or causative.”

Looking ahead, she said, “Ideally, we would want every family affected by sudden unexplained death in pediatrics to have genetic testing, including a chromosomal microarray. Once we have more families enrolled and tested, we will be able to understand the risk factors for SIDS and SUDC much better.”

Benjamin Solomon, MD, clinical director at the National Human Genome Research Institute, Bethesda, Md., said the new research “may bring answers for individual situations as well as enable research to understand the overall biological underpinnings and causes of disease.”

The findings “help reinforce the heterogeneous nature of SUDC and related conditions,” Dr. Solomon said. “The results also highlight some of the challenges regarding how to interpret the possible clinical effects of genetic changes. That is, every person has genetic changes, and interpreting how certain genetic changes may or may not contribute to a disease or health care outcome can be challenging.”

Research is needed to understand not only the overall causes of SUDC but also how the different causes interact, Dr. Solomon said. “Eventually, better understanding of the causes could lead to knowledge that would enable interventions that could help prevent or reduce these devastating outcomes.”

The study was supported by the Robert’s Program on Sudden Unexplained Death in Pediatrics, the Jude Zayac Foundation, multiple grants from the Eunice Kennedy Shriver National Institutes of Health/National Institute of Child Health and Human Development, the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center Molecular Genetics Core Facility (supported by the NIH/NICHD), and by the NIH National Institute of Mental Health. The researchers and Dr. Solomon have disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.

Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.

“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”

Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”

For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”

As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.

It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)

On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.

“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.

She phoned Labcorp a second time. The call ended when an employee hung up on her.

Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?

If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.

But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.

The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.

Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.

Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”

The risk of false positives from prenatal screenings, in particular, has been known for years.

In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.

Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.

“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.

The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.

The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”

The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.

Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.

Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)

Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.

Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.

For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.

When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.

But others had more questions than answers. None more so than Amanda.

“What are these tests?” she wondered. “And how did mine end up in the margin of error?”
 

‘They started using it on humans, and then they went back and said: “Was our test accurate?” ’

Scientists have long tried to find ways to help parents and doctors understand what’s happening inside the womb. Amniocentesis was first used to reveal genetic anomalies in the late 1960s. But it didn’t become more popular until it began to be paired with ultrasound to precisely guide the procedure.

In the 1980s, doctors started using chorionic villus sampling, or CVS, an analysis of placental tissue that offers a diagnosis earlier in pregnancy. But, like amniocentesis, it is an invasive test that involves some risk to the fetus, though experts say it’s exceptionally low.

A breakthrough came in the late 1990s, when a scientist recognized that free-floating placental DNA could be detected in the mother’s blood. This meant that the fetus’s chromosomes could be examined by collecting a blood sample as soon as 9 weeks into pregnancy. This also provides an early opportunity to learn the likely fetal sex – a particularly popular feature.

Champions of the new science celebrated the arrival of a simple technique for patients that was particularly precise, at least for some conditions. Many favored it over other noninvasive options. But the industry that developed around NIPT has been marred by controversy from the beginning.

Dr. Ronald Wapner, director of reproductive genetics at Columbia University, described that time as “very chaotic.”

The tests had not been appropriately evaluated in clinical practice, said Dr. Wapner, whose research has sometimes been funded by testing companies. Because of this, he said, the industry “had very incomplete data on how well it worked.”

That didn’t stop the excitement. The chief executive of Sequenom, a biotechnology company that planned to release the first NIPT for Down syndrome, championed the company as the “Google of Molecular Diagnostics.” Its stock price soared.

Then, about 2 months before an expected launch in 2009, Sequenom killed the plan. The company’s research director, it turned out, had manipulated testing data and made misleading claims about how well the screening worked.

The U.S. Securities and Exchange Commission and Federal Bureau of Investigation opened investigations. Top executives were fired, and the research director pleaded guilty to conspiracy to commit securities fraud. Sequenom still managed to commercialize the test in 2011. (Labcorp, which later acquired Sequenom, said it uses a different kind of test.)

Other companies soon debuted their own tests. Still, there was little data on their clinical performance, researchers said.

As Megan Allyse, a bioethicist at the Mayo Clinic, put it, the companies “launched the test, they started using it on humans, and then they went back and said, ‘Was our test accurate?’ ” She also questioned the lack of attention to the ethics of how tests are presented to patients.

Despite missteps by the industry, the FDA didn’t scrutinize the screenings because they were considered lab-developed tests, which means they are created by the same laboratory that conducts them.

In 1976, Congress revamped oversight over medical devices. Since then, the FDA has effectively exempted such “home-brew” tests from key regulatory requirements. The idea was that when, say, a hospital lab wanted to create a simple test for its own patients, it was spared the time, money, and hassle of getting approval from Washington bureaucrats.

Today, lab-developed tests are vastly more numerous and complex. Because they aren’t registered with the federal government, nobody knows how many exist.

The distinction between tests the FDA actively regulates and those they don’t can seem nonsensical. It isn’t based on the complexity of the tests, or how people use them. It’s simply a matter of where the test is made.

The prenatal genetic screening industry took off almost immediately, powered by an army of aggressive sales representatives.

“At the very beginning, obstetricians in practice were being just completely inundated with visits from the sales reps,” said Dr. John Williams, director of reproductive health at Cedars-Sinai Medical Center in Los Angeles. The push left many ob.gyns. and patients thinking the screenings were accurate enough to substitute for diagnostic tests, such as amniocentesis or CVS.

In some cases, sales tactics escalated into lawbreaking.

Former Sequenom executives who exited during the fraud scandal created a new company that became Progenity, which also offered prenatal screening. Shortly after the company went public in 2020, it finalized a $49 million settlement with federal and state governments, where it admitted to falsifying insurance claims and giving kickbacks to physicians and their staff. According to a legal filing, one sales rep spent $65,658 on meals and alcohol for physicians in 1 year.

Now called Biora Therapeutics, the company said in a statement it no longer does any laboratory testing, including prenatal screenings.

Industry revenue continues to grow, but some testing companies are still fighting to make a profit, and competition to survive is fierce. “There’s a multibillion-dollar market, and they all want a piece of it,” said a former Progenity sales rep who quit in disgust after 5 months in 2016.

The rep, who requested anonymity because she continues to work in the field, said she still sees competitors from NIPT companies visiting medical practices “every week, buying breakfast or dinner, or taking them out for happy hour.”

Over time, companies pointed to new peer-reviewed studies, research the industry itself funded, to earn the confidence of doctors and other stakeholders. They showed that two tests – for Down syndrome and trisomy 18 – often performed better than other screening methods.

This research was valid, said Dr. Mary Norton, a perinatologist and clinical geneticist at the University of California, San Francisco, Medical Center’s prenatal diagnostic center. Considered a leading researcher in the field, she was an author of many of these key industry-funded studies.

But, she said, when research findings were presented publicly, the companies sometimes downplayed “inconvenient truths,” such as the exclusion of inconclusive results from accuracy estimates. Crucial caveats were also glossed over by some companies when they translated research into promotional copy aimed at health care providers and patients. Those materials didn’t always mention the many factors that can limit the performance of the screenings, including high body weight, the rarity of the condition tested, and younger maternal age.

Testing companies said they try to help patients understand the screenings through online resources and other materials. Some offer genetic counseling services.

The younger a person is, the lower the test’s positive predictive value – that is, the probability that a positive screening result will turn out to be correct – will be for some conditions. For instance, because Down syndrome is less prevalent in younger people’s pregnancies, a positive screening test is more likely to be a false positive for them.

Kristina was 30 years old in 2016, when her Progenity test came back positive for Down syndrome. She and her husband, who asked not to be fully named to protect their privacy, said they didn’t plan to carry a pregnancy with this condition to term.

But waiting to get an amniocentesis, and then waiting for the results, took 5 agonizing weeks, she said. It showed her son did not have Down syndrome.

Kristina, who lives in Texas, is still troubled by what she describes as a traumatic experience.

“I researched both late-term abortion providers and cemeteries,” she said. They even picked out a burial place, near their house.

She bought a blue baby blanket she intended to bury the baby’s tiny body in. She still has it. Her son, now 5, sleeps with it every night.
 

‘I can’t believe I didn’t say more’

As lab-developed tests became a bigger business, moving well past their home-brew origins, regulators looked for a way to assert oversight. In 2014, after years of study and debate, the time seemed right.

The FDA released plans proposing to regulate the tests, prioritizing those used to make major medical decisions. The agency has pointed to NIPTs as 1 of 20 concerning tests.

But, over the next 2 years, a coalition of power players urged the FDA to back off. Professional associations issued statements and hosted webinars devoted to the issue. Some created polished websites featuring sample letters to send to Washington.

Academic medical centers and pathology departments joined the fight, too. Scientists from 23 of them put it bluntly in a letter to the Office of Management and Budget: “FDA regulation of LDTs would be contrary to the public health,” it said, using a common acronym for the tests.

“Critical testing would be unavailable in the ‘lag time’ between development of new tests and FDA authorizing them,” the authors of the letter wrote, “and subsequent improvements on existing tests would slow significantly under the rigid, inflexible, and duplicative FDA regulatory scheme.”

This could delay essential care for patients. What’s more, opponents argued, existing lab reviews by the Centers for Medicare and Medicaid Services are sufficiently rigorous. Some have suggested modernizing the CMS review process to improve oversight.

An FDA spokesperson told ProPublica that the agency encountered “continued, negative feedback,” including a 25-page paper written by two legal heavyweights hired by the American Clinical Laboratory Association: Paul Clement, President George W. Bush’s former solicitor general, and Laurence Tribe, law professor at Harvard University.

Mr. Clement has reportedly commanded rates of $1,350 per hour. He and Mr. Tribe did not respond to ProPublica’s queries about their work.

Their brief argued that the FDA “lacked legal authority” to regulate lab-developed tests because they are properly seen as the practice of medicine: a service, rather than a product.

However, as lawyers representing the American Association of Bioanalysts countered, the FDA would vet tests before they reach the market, not control how doctors use them. The government proposal, they wrote, is “similar to imposing requirements to screen blood or label drugs.”

After the election of President Donald Trump, but before he took office, a handful of FDA officials discussed their battered proposal. It had represented a breakthrough in the decades of excruciating back-and-forth with industry. But now, with an incoming administration bent on deregulation, their efforts seemed futile.

The regulators feared anything they enacted would be undone by Congress – and, under the Congressional Review Act, they might not be able to reissue anything “substantially similar” in the future. So the FDA published a white paper instead, summarizing the issue “for further public discussion.”

After the meeting where officials made this call, Mr. Lurie, then the FDA’s associate commissioner, recalled a colleague approaching him: “I can’t believe you didn’t say more.”

“And I was like, ‘Yeah, actually, I can’t believe I didn’t say more either,’ ” Mr. Lurie later told ProPublica. (After leaving the agency, Mr. Lurie went on to lead the Center for Science in the Public Interest, a consumer advocacy nonprofit, which has pushed the FDA to finally assert oversight over lab-developed tests.)

Nancy Stade, an attorney and senior policy official who left the FDA in 2015, said the agency often moves slowly as it seeks to get buy-in from industry and professional groups. In her work on regulatory policy, she saw it happen with lab-developed tests.

The agency is “always testing the waters,” she said, “and always coming out with something a little bit softer.”

In 2020, the influential American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, representing doctors who handle pregnancies, gave the screening industry another huge boost.

In a bulletin updating their advice on the tests, the two groups described growing research on the performance of some of the standard tests and said people have the right to information about their pregnancies, so the tests should be offered to all patients. Previously, they recommended this only for those facing higher risk of genetic anomalies.

The bulletin said the coauthors had disclosed no conflicts of interest. But two of the four coauthors, including Mary Norton, had disclosed in prior publications that test-makers had provided funding for their research. A company had provided a third coauthor with laboratory services needed to run tests, according to that researcher, a connection she also disclosed in past papers.

ACOG, in a statement to ProPublica, said the organization “identified no conflicts because research funding is provided to academic institutions with institutional review boards, not to individual investigators.” Two of the three researchers responded to questions from ProPublica and said they maintained independence over their work.

One test-maker, Illumina, celebrated the ACOG guidance in a tweet, saying it “recognizes the superior performance of #NIPT and the benefit it provides expectant families.” Natera’s share prices doubled in 5 months. UnitedHealthcare, the nation’s largest private insurer and long a target of industry lobbying, told ProPublica it changed its stance to cover screenings for all patients, regardless of risk, because of the recommendation.

In a recent shareholder report, Natera stated that prenatal genetic and carrier screenings “represent the significant majority of our revenues,” which totaled $625.5 million in 2021. The company expects more growth to come.

“The NIPT market is still very underpenetrated, compared to the 4 to 5 million pregnancies in the U.S.,” Natera’s chief executive said on a 2021 earnings call, “so there’s a long way to go.”

But even Dr. Norton, who coauthored the ACOG recommendation and favors NIPTs for patients 40 and over, has concerns about screenings becoming widespread among those who are younger. In most cases, she prefers other screening methods that catch the nongenetic problems younger moms are more likely to face. Negative results from an NIPT, she said, can be “falsely reassuring.”

In the years after the FDA set aside its regulatory proposal, the agency has assisted members of Congress on a proposed legislative solution. That effort, dubbed the VALID Act, aims to end any debate over the agency’s authority over lab-developed tests. An FDA press officer said the legislation would ensure the prenatal screening tests and others are “accurate and reliable.”

But, as in the past, intense lobbying followed the proposal. The VALID Act was a rider to a funding reauthorization bill, but in September the House and Senate agreed to remove it. Advocates now hope to attach it to proposed end-of-year legislation.

Meanwhile, earlier this year, 4 months after the New York Times story on the usefulness of some screenings, the FDA took a step toward more public awareness about prenatal genetic screening. It issued its first safety communication on them, noting the potential for false results.

It cautioned patients about making “critical health care decisions based on results from these screening tests alone.”

Cara Tenenbaum, a former FDA policy advisor, was pleased to see the statement. Still, she said, it was long overdue.

“This has been known – known, or should have been known – for 10 years,” she said.
 

‘It had me so messed up’

With the demise of Roe v. Wade, restrictive and ever-changing abortion laws can pressure people to act quickly with limited information, heightening the stakes of prenatal screening.

Julia, a mom from Mississippi’s Gulf Coast, knows what it’s like to face harrowing consequences while navigating state-imposed time limits – and doing so with little guidance. Last fall, she was pregnant with her fourth child when, she said, a nurse practitioner suggested prenatal genetic screening.

At 33, Julia had no risk factors. Her previous pregnancies hadn’t been screened with an NIPT. But with three sons and 18 nephews, she and her husband were curious about the baby’s sex. And the screening seemed like it had no downside.

Julia figured it would only be offered if it was reliable, so her nurse practitioner ordered her both the basic bundle of screenings and the extra tests. (The medical practice didn’t respond to interview requests. Julia is a family nickname that’s used here to protect her privacy.)

The screenings showed the baby was a girl – but the extra tests also detected trisomy 16, a condition caused by an extra chromosome that is so rare, the nurse didn’t know what it was, Julia recalled.

The nurse borrowed Julia’s phone, using it to search online and read aloud what she found. Julia was stunned to hear trisomy 16 was incompatible with life.

“I was utterly devastated,” she said. “I made it out of my doctor’s office but completely broke down in the car.”

But ACOG does not recommend the trisomy 16 screening, saying “its accuracy with regard to detection and the false-positive rate is not established.” Julia wasn’t informed of this, she said, and she’s not sure if her health care providers knew it either.

The lab report recommended diagnostic testing to confirm the results, but time was short. She had her amniocentesis at 17 weeks. It could take up to 4 more weeks to receive results.

That would be too late for a legal abortion in Mississippi. So she made an appointment for one in Florida, where the cutoff was 24 weeks. (It’s now 15 weeks in Florida, while Mississippi went from 15 weeks for legal procedures to a ban on nearly all abortions.)

The wait was excruciating. Julia was driving twice a week to New Orleans for specialized care. With work and child care, it was too hard. She quit the teaching job she loved.

One winter night, she felt the fetus move for the first time – ordinarily a milestone, but now, facing a fatal prognosis, she didn’t want to get attached. “It had me so messed up,” she said.

On the way to the amniocentesis, Julia and her husband chose a name. Drawing from a language conjured by J.R.R. Tolkien in the fantasy novels they love, it means “hope.”

More than halfway through her pregnancy, the amnio results arrived. The prenatal screening had given a false positive. The baby would be fine. In May, Julia gave birth to a healthy daughter.

Julia and her husband are upset about the needless anguish brought on by the screening. “They like to have it both ways,” said Julia’s husband. “They say they are 99% accurate, but when there’s a false positive, they say, ‘Well, we’re not diagnostic.’ ”

Believing the prenatal screening was likely accurate, they had seriously considered canceling the amniocentesis, saving their limited funds for an abortion in Florida, hundreds of miles away.

Their dilemma points to a longtime concern: ending pregnancies based on false positives. The FDA cited it as a risk as far back as 2015. Now, those with positive results are facing an even tighter time crunch. They must consider whether waiting for a definitive test, and possibly traveling to another state for an abortion later in pregnancy, is worth it.

In their promotional material, some companies not only sidestep the variability of the standard tests, they fail to distinguish them from the least reliable ones – those for exceptionally rare conditions. They tout the extra screenings as “premium,” “plus,” or “advanced” options.

“Going to greater lengths for the answers that matter most,” says a brochure aimed at health care providers from test-maker Illumina. Elsewhere it states that the “expanded” panel of tests provides “confident results” and “the additional insights you need.”

But the companies themselves know the accuracy of some of their tests has yet to be established in the research. Natera acknowledged in a recent shareholder report that many insurers won’t pay for screenings for missing chromosomal fragments, known as microdeletions, in part because there isn’t enough published data behind them.

The company, responding to ProPublica, stressed the quality of the data over the quantity, saying the research so far has been favorable. “Natera’s microdeletion testing was thoroughly validated with results published in peer-reviewed publications,” it said in a statement.

Natera pointed to a recent study that looked at DiGeorge syndrome, one of several chromosomal anomalies it checks for with its microdeletion screenings. Researchers found the positive predictive value (PPV) of the test to be 52.6%, meaning that nearly half of positive results are false positives. (For many patients, PPVs for more common conditions can exceed 90%.)

Natera said the performance of the diGeorge syndrome test “is excellent and not considered a low PPV,” because of the condition being extremely rare.

Companies also play up the danger of diagnostic tests like amnio. They “can cause miscarriages,” warns the marketing from Labcorp, which made Amanda’s screening, while its test “does not cause miscarriages.” But medical experts emphasize that diagnostic tests, such as amniocentesis, are more accurate and, in fact, carry little risk to the pregnancy.

Labcorp, in a statement, said the company “acknowledges the well-documented risk associated with amniocentesis and CVS in our literature. It is the patient’s prerogative to decide which risks they are willing or unwilling to take.”

Marketing claims also sometimes skate over the nuances in the guidance from the leading professional societies. On a webpage targeting health care providers, for example, a Labcorp chart said groups such as ACOG “endorse and/or recognize” prenatal screenings as an option for all pregnancies. But the chart listed screenings ACOG does not recommend, including trisomy 16.

When asked about it, Labcorp said in a statement that ACOG “endorses NIPS for all pregnancies.” In fact, the guidance is not so sweeping. It says only that the basic bundle of tests should be offered to all, alongside other screening options. It explicitly advises providers to not offer patients the extra tests.

Soon after ProPublica’s query, the Labcorp webpage was updated to remove any mention of the professional societies.

Patients say they often don’t know where to turn for informed and unbiased information. That’s why the r/NIPT Reddit page became such a robust community. Facing difficult news, Julia turned to it for counsel from other prospective parents. Kristina in Texas found the same community. Amanda, too.
 

‘The margin of error is a human life’

On a warm and cloudy day this past June, on what would have been their daughter’s first birthday, Amanda and her husband visited her grave. They brought a unicorn balloon and vanilla cake, which they ate nearby on the grass. Her husband read a poem.

To them, their baby had been perfect. She had fingers and toes. A thatch of dark hair. While in intensive care, peering up at her parents, she grabbed for her mother’s hand.

Had her condition been known, they would’ve spared her futile medical interventions, as doctors tried to save her life. Their family priest would have been able to baptize her. As it was, they never got to hold their child while she was alive.

These days, when Amanda and her husband say grace before dinner, they give thanks for the 28 hours of their daughter’s life.

They’re also thinking about making comfort boxes the hospital could give to other parents who lose a child. It might include books on grief. Softer tissues. Something that says, as Amanda puts it, “This is to help you get through.”

Amid their grief, they had a prayer answered: Amanda is pregnant again.

It’s frightening to go through this again. She barely sleeps the night before visiting the doctor. It feels like she never stopped being pregnant. It will feel that way, she said, until she brings a baby home – one who lives past the first 2 nights.

Amanda planned to get another genetic screening test. At first she couldn’t bear it, wasn’t sure she could trust it. “The margin of error is a human life,” Amanda said.

The 10-week appointment passed. Then the 12-week appointment. After her 13th week, she took the plunge. The test she was given was from Labcorp.

Around this time, more than a year after Amanda had desperately tried to alert the company about what had happened to her and her first baby, she finally heard back. Labcorp’s vice president of genetic counseling and services reached out – after ProPublica contacted the company and shared Amanda’s story.

The executive would only speak to Amanda without a reporter present.

Amanda said that during the call, the executive told her that prenatal genetic tests are evolving, and doctors should be clear about what the screenings can and cannot do. By the end of the conversation, the executive offered Amanda her cell number.

Amanda said she appreciated the call. “I feel better. I feel like I got something.”

The same day, her screening results came back. They were negative.
 

This story was originally published on ProPublica. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive their biggest stories as soon as they’re published.

Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.

Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.

“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”

Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”

For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”

As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.

It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)

On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.

“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.

She phoned Labcorp a second time. The call ended when an employee hung up on her.

Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?

If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.

But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.

The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.

Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.

Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”

The risk of false positives from prenatal screenings, in particular, has been known for years.

In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.

Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.

“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.

The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.

The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”

The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.

Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.

Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)

Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.

Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.

For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.

When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.

But others had more questions than answers. None more so than Amanda.

“What are these tests?” she wondered. “And how did mine end up in the margin of error?”
 

‘They started using it on humans, and then they went back and said: “Was our test accurate?” ’

Scientists have long tried to find ways to help parents and doctors understand what’s happening inside the womb. Amniocentesis was first used to reveal genetic anomalies in the late 1960s. But it didn’t become more popular until it began to be paired with ultrasound to precisely guide the procedure.

In the 1980s, doctors started using chorionic villus sampling, or CVS, an analysis of placental tissue that offers a diagnosis earlier in pregnancy. But, like amniocentesis, it is an invasive test that involves some risk to the fetus, though experts say it’s exceptionally low.

A breakthrough came in the late 1990s, when a scientist recognized that free-floating placental DNA could be detected in the mother’s blood. This meant that the fetus’s chromosomes could be examined by collecting a blood sample as soon as 9 weeks into pregnancy. This also provides an early opportunity to learn the likely fetal sex – a particularly popular feature.

Champions of the new science celebrated the arrival of a simple technique for patients that was particularly precise, at least for some conditions. Many favored it over other noninvasive options. But the industry that developed around NIPT has been marred by controversy from the beginning.

Dr. Ronald Wapner, director of reproductive genetics at Columbia University, described that time as “very chaotic.”

The tests had not been appropriately evaluated in clinical practice, said Dr. Wapner, whose research has sometimes been funded by testing companies. Because of this, he said, the industry “had very incomplete data on how well it worked.”

That didn’t stop the excitement. The chief executive of Sequenom, a biotechnology company that planned to release the first NIPT for Down syndrome, championed the company as the “Google of Molecular Diagnostics.” Its stock price soared.

Then, about 2 months before an expected launch in 2009, Sequenom killed the plan. The company’s research director, it turned out, had manipulated testing data and made misleading claims about how well the screening worked.

The U.S. Securities and Exchange Commission and Federal Bureau of Investigation opened investigations. Top executives were fired, and the research director pleaded guilty to conspiracy to commit securities fraud. Sequenom still managed to commercialize the test in 2011. (Labcorp, which later acquired Sequenom, said it uses a different kind of test.)

Other companies soon debuted their own tests. Still, there was little data on their clinical performance, researchers said.

As Megan Allyse, a bioethicist at the Mayo Clinic, put it, the companies “launched the test, they started using it on humans, and then they went back and said, ‘Was our test accurate?’ ” She also questioned the lack of attention to the ethics of how tests are presented to patients.

Despite missteps by the industry, the FDA didn’t scrutinize the screenings because they were considered lab-developed tests, which means they are created by the same laboratory that conducts them.

In 1976, Congress revamped oversight over medical devices. Since then, the FDA has effectively exempted such “home-brew” tests from key regulatory requirements. The idea was that when, say, a hospital lab wanted to create a simple test for its own patients, it was spared the time, money, and hassle of getting approval from Washington bureaucrats.

Today, lab-developed tests are vastly more numerous and complex. Because they aren’t registered with the federal government, nobody knows how many exist.

The distinction between tests the FDA actively regulates and those they don’t can seem nonsensical. It isn’t based on the complexity of the tests, or how people use them. It’s simply a matter of where the test is made.

The prenatal genetic screening industry took off almost immediately, powered by an army of aggressive sales representatives.

“At the very beginning, obstetricians in practice were being just completely inundated with visits from the sales reps,” said Dr. John Williams, director of reproductive health at Cedars-Sinai Medical Center in Los Angeles. The push left many ob.gyns. and patients thinking the screenings were accurate enough to substitute for diagnostic tests, such as amniocentesis or CVS.

In some cases, sales tactics escalated into lawbreaking.

Former Sequenom executives who exited during the fraud scandal created a new company that became Progenity, which also offered prenatal screening. Shortly after the company went public in 2020, it finalized a $49 million settlement with federal and state governments, where it admitted to falsifying insurance claims and giving kickbacks to physicians and their staff. According to a legal filing, one sales rep spent $65,658 on meals and alcohol for physicians in 1 year.

Now called Biora Therapeutics, the company said in a statement it no longer does any laboratory testing, including prenatal screenings.

Industry revenue continues to grow, but some testing companies are still fighting to make a profit, and competition to survive is fierce. “There’s a multibillion-dollar market, and they all want a piece of it,” said a former Progenity sales rep who quit in disgust after 5 months in 2016.

The rep, who requested anonymity because she continues to work in the field, said she still sees competitors from NIPT companies visiting medical practices “every week, buying breakfast or dinner, or taking them out for happy hour.”

Over time, companies pointed to new peer-reviewed studies, research the industry itself funded, to earn the confidence of doctors and other stakeholders. They showed that two tests – for Down syndrome and trisomy 18 – often performed better than other screening methods.

This research was valid, said Dr. Mary Norton, a perinatologist and clinical geneticist at the University of California, San Francisco, Medical Center’s prenatal diagnostic center. Considered a leading researcher in the field, she was an author of many of these key industry-funded studies.

But, she said, when research findings were presented publicly, the companies sometimes downplayed “inconvenient truths,” such as the exclusion of inconclusive results from accuracy estimates. Crucial caveats were also glossed over by some companies when they translated research into promotional copy aimed at health care providers and patients. Those materials didn’t always mention the many factors that can limit the performance of the screenings, including high body weight, the rarity of the condition tested, and younger maternal age.

Testing companies said they try to help patients understand the screenings through online resources and other materials. Some offer genetic counseling services.

The younger a person is, the lower the test’s positive predictive value – that is, the probability that a positive screening result will turn out to be correct – will be for some conditions. For instance, because Down syndrome is less prevalent in younger people’s pregnancies, a positive screening test is more likely to be a false positive for them.

Kristina was 30 years old in 2016, when her Progenity test came back positive for Down syndrome. She and her husband, who asked not to be fully named to protect their privacy, said they didn’t plan to carry a pregnancy with this condition to term.

But waiting to get an amniocentesis, and then waiting for the results, took 5 agonizing weeks, she said. It showed her son did not have Down syndrome.

Kristina, who lives in Texas, is still troubled by what she describes as a traumatic experience.

“I researched both late-term abortion providers and cemeteries,” she said. They even picked out a burial place, near their house.

She bought a blue baby blanket she intended to bury the baby’s tiny body in. She still has it. Her son, now 5, sleeps with it every night.
 

‘I can’t believe I didn’t say more’

As lab-developed tests became a bigger business, moving well past their home-brew origins, regulators looked for a way to assert oversight. In 2014, after years of study and debate, the time seemed right.

The FDA released plans proposing to regulate the tests, prioritizing those used to make major medical decisions. The agency has pointed to NIPTs as 1 of 20 concerning tests.

But, over the next 2 years, a coalition of power players urged the FDA to back off. Professional associations issued statements and hosted webinars devoted to the issue. Some created polished websites featuring sample letters to send to Washington.

Academic medical centers and pathology departments joined the fight, too. Scientists from 23 of them put it bluntly in a letter to the Office of Management and Budget: “FDA regulation of LDTs would be contrary to the public health,” it said, using a common acronym for the tests.

“Critical testing would be unavailable in the ‘lag time’ between development of new tests and FDA authorizing them,” the authors of the letter wrote, “and subsequent improvements on existing tests would slow significantly under the rigid, inflexible, and duplicative FDA regulatory scheme.”

This could delay essential care for patients. What’s more, opponents argued, existing lab reviews by the Centers for Medicare and Medicaid Services are sufficiently rigorous. Some have suggested modernizing the CMS review process to improve oversight.

An FDA spokesperson told ProPublica that the agency encountered “continued, negative feedback,” including a 25-page paper written by two legal heavyweights hired by the American Clinical Laboratory Association: Paul Clement, President George W. Bush’s former solicitor general, and Laurence Tribe, law professor at Harvard University.

Mr. Clement has reportedly commanded rates of $1,350 per hour. He and Mr. Tribe did not respond to ProPublica’s queries about their work.

Their brief argued that the FDA “lacked legal authority” to regulate lab-developed tests because they are properly seen as the practice of medicine: a service, rather than a product.

However, as lawyers representing the American Association of Bioanalysts countered, the FDA would vet tests before they reach the market, not control how doctors use them. The government proposal, they wrote, is “similar to imposing requirements to screen blood or label drugs.”

After the election of President Donald Trump, but before he took office, a handful of FDA officials discussed their battered proposal. It had represented a breakthrough in the decades of excruciating back-and-forth with industry. But now, with an incoming administration bent on deregulation, their efforts seemed futile.

The regulators feared anything they enacted would be undone by Congress – and, under the Congressional Review Act, they might not be able to reissue anything “substantially similar” in the future. So the FDA published a white paper instead, summarizing the issue “for further public discussion.”

After the meeting where officials made this call, Mr. Lurie, then the FDA’s associate commissioner, recalled a colleague approaching him: “I can’t believe you didn’t say more.”

“And I was like, ‘Yeah, actually, I can’t believe I didn’t say more either,’ ” Mr. Lurie later told ProPublica. (After leaving the agency, Mr. Lurie went on to lead the Center for Science in the Public Interest, a consumer advocacy nonprofit, which has pushed the FDA to finally assert oversight over lab-developed tests.)

Nancy Stade, an attorney and senior policy official who left the FDA in 2015, said the agency often moves slowly as it seeks to get buy-in from industry and professional groups. In her work on regulatory policy, she saw it happen with lab-developed tests.

The agency is “always testing the waters,” she said, “and always coming out with something a little bit softer.”

In 2020, the influential American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, representing doctors who handle pregnancies, gave the screening industry another huge boost.

In a bulletin updating their advice on the tests, the two groups described growing research on the performance of some of the standard tests and said people have the right to information about their pregnancies, so the tests should be offered to all patients. Previously, they recommended this only for those facing higher risk of genetic anomalies.

The bulletin said the coauthors had disclosed no conflicts of interest. But two of the four coauthors, including Mary Norton, had disclosed in prior publications that test-makers had provided funding for their research. A company had provided a third coauthor with laboratory services needed to run tests, according to that researcher, a connection she also disclosed in past papers.

ACOG, in a statement to ProPublica, said the organization “identified no conflicts because research funding is provided to academic institutions with institutional review boards, not to individual investigators.” Two of the three researchers responded to questions from ProPublica and said they maintained independence over their work.

One test-maker, Illumina, celebrated the ACOG guidance in a tweet, saying it “recognizes the superior performance of #NIPT and the benefit it provides expectant families.” Natera’s share prices doubled in 5 months. UnitedHealthcare, the nation’s largest private insurer and long a target of industry lobbying, told ProPublica it changed its stance to cover screenings for all patients, regardless of risk, because of the recommendation.

In a recent shareholder report, Natera stated that prenatal genetic and carrier screenings “represent the significant majority of our revenues,” which totaled $625.5 million in 2021. The company expects more growth to come.

“The NIPT market is still very underpenetrated, compared to the 4 to 5 million pregnancies in the U.S.,” Natera’s chief executive said on a 2021 earnings call, “so there’s a long way to go.”

But even Dr. Norton, who coauthored the ACOG recommendation and favors NIPTs for patients 40 and over, has concerns about screenings becoming widespread among those who are younger. In most cases, she prefers other screening methods that catch the nongenetic problems younger moms are more likely to face. Negative results from an NIPT, she said, can be “falsely reassuring.”

In the years after the FDA set aside its regulatory proposal, the agency has assisted members of Congress on a proposed legislative solution. That effort, dubbed the VALID Act, aims to end any debate over the agency’s authority over lab-developed tests. An FDA press officer said the legislation would ensure the prenatal screening tests and others are “accurate and reliable.”

But, as in the past, intense lobbying followed the proposal. The VALID Act was a rider to a funding reauthorization bill, but in September the House and Senate agreed to remove it. Advocates now hope to attach it to proposed end-of-year legislation.

Meanwhile, earlier this year, 4 months after the New York Times story on the usefulness of some screenings, the FDA took a step toward more public awareness about prenatal genetic screening. It issued its first safety communication on them, noting the potential for false results.

It cautioned patients about making “critical health care decisions based on results from these screening tests alone.”

Cara Tenenbaum, a former FDA policy advisor, was pleased to see the statement. Still, she said, it was long overdue.

“This has been known – known, or should have been known – for 10 years,” she said.
 

‘It had me so messed up’

With the demise of Roe v. Wade, restrictive and ever-changing abortion laws can pressure people to act quickly with limited information, heightening the stakes of prenatal screening.

Julia, a mom from Mississippi’s Gulf Coast, knows what it’s like to face harrowing consequences while navigating state-imposed time limits – and doing so with little guidance. Last fall, she was pregnant with her fourth child when, she said, a nurse practitioner suggested prenatal genetic screening.

At 33, Julia had no risk factors. Her previous pregnancies hadn’t been screened with an NIPT. But with three sons and 18 nephews, she and her husband were curious about the baby’s sex. And the screening seemed like it had no downside.

Julia figured it would only be offered if it was reliable, so her nurse practitioner ordered her both the basic bundle of screenings and the extra tests. (The medical practice didn’t respond to interview requests. Julia is a family nickname that’s used here to protect her privacy.)

The screenings showed the baby was a girl – but the extra tests also detected trisomy 16, a condition caused by an extra chromosome that is so rare, the nurse didn’t know what it was, Julia recalled.

The nurse borrowed Julia’s phone, using it to search online and read aloud what she found. Julia was stunned to hear trisomy 16 was incompatible with life.

“I was utterly devastated,” she said. “I made it out of my doctor’s office but completely broke down in the car.”

But ACOG does not recommend the trisomy 16 screening, saying “its accuracy with regard to detection and the false-positive rate is not established.” Julia wasn’t informed of this, she said, and she’s not sure if her health care providers knew it either.

The lab report recommended diagnostic testing to confirm the results, but time was short. She had her amniocentesis at 17 weeks. It could take up to 4 more weeks to receive results.

That would be too late for a legal abortion in Mississippi. So she made an appointment for one in Florida, where the cutoff was 24 weeks. (It’s now 15 weeks in Florida, while Mississippi went from 15 weeks for legal procedures to a ban on nearly all abortions.)

The wait was excruciating. Julia was driving twice a week to New Orleans for specialized care. With work and child care, it was too hard. She quit the teaching job she loved.

One winter night, she felt the fetus move for the first time – ordinarily a milestone, but now, facing a fatal prognosis, she didn’t want to get attached. “It had me so messed up,” she said.

On the way to the amniocentesis, Julia and her husband chose a name. Drawing from a language conjured by J.R.R. Tolkien in the fantasy novels they love, it means “hope.”

More than halfway through her pregnancy, the amnio results arrived. The prenatal screening had given a false positive. The baby would be fine. In May, Julia gave birth to a healthy daughter.

Julia and her husband are upset about the needless anguish brought on by the screening. “They like to have it both ways,” said Julia’s husband. “They say they are 99% accurate, but when there’s a false positive, they say, ‘Well, we’re not diagnostic.’ ”

Believing the prenatal screening was likely accurate, they had seriously considered canceling the amniocentesis, saving their limited funds for an abortion in Florida, hundreds of miles away.

Their dilemma points to a longtime concern: ending pregnancies based on false positives. The FDA cited it as a risk as far back as 2015. Now, those with positive results are facing an even tighter time crunch. They must consider whether waiting for a definitive test, and possibly traveling to another state for an abortion later in pregnancy, is worth it.

In their promotional material, some companies not only sidestep the variability of the standard tests, they fail to distinguish them from the least reliable ones – those for exceptionally rare conditions. They tout the extra screenings as “premium,” “plus,” or “advanced” options.

“Going to greater lengths for the answers that matter most,” says a brochure aimed at health care providers from test-maker Illumina. Elsewhere it states that the “expanded” panel of tests provides “confident results” and “the additional insights you need.”

But the companies themselves know the accuracy of some of their tests has yet to be established in the research. Natera acknowledged in a recent shareholder report that many insurers won’t pay for screenings for missing chromosomal fragments, known as microdeletions, in part because there isn’t enough published data behind them.

The company, responding to ProPublica, stressed the quality of the data over the quantity, saying the research so far has been favorable. “Natera’s microdeletion testing was thoroughly validated with results published in peer-reviewed publications,” it said in a statement.

Natera pointed to a recent study that looked at DiGeorge syndrome, one of several chromosomal anomalies it checks for with its microdeletion screenings. Researchers found the positive predictive value (PPV) of the test to be 52.6%, meaning that nearly half of positive results are false positives. (For many patients, PPVs for more common conditions can exceed 90%.)

Natera said the performance of the diGeorge syndrome test “is excellent and not considered a low PPV,” because of the condition being extremely rare.

Companies also play up the danger of diagnostic tests like amnio. They “can cause miscarriages,” warns the marketing from Labcorp, which made Amanda’s screening, while its test “does not cause miscarriages.” But medical experts emphasize that diagnostic tests, such as amniocentesis, are more accurate and, in fact, carry little risk to the pregnancy.

Labcorp, in a statement, said the company “acknowledges the well-documented risk associated with amniocentesis and CVS in our literature. It is the patient’s prerogative to decide which risks they are willing or unwilling to take.”

Marketing claims also sometimes skate over the nuances in the guidance from the leading professional societies. On a webpage targeting health care providers, for example, a Labcorp chart said groups such as ACOG “endorse and/or recognize” prenatal screenings as an option for all pregnancies. But the chart listed screenings ACOG does not recommend, including trisomy 16.

When asked about it, Labcorp said in a statement that ACOG “endorses NIPS for all pregnancies.” In fact, the guidance is not so sweeping. It says only that the basic bundle of tests should be offered to all, alongside other screening options. It explicitly advises providers to not offer patients the extra tests.

Soon after ProPublica’s query, the Labcorp webpage was updated to remove any mention of the professional societies.

Patients say they often don’t know where to turn for informed and unbiased information. That’s why the r/NIPT Reddit page became such a robust community. Facing difficult news, Julia turned to it for counsel from other prospective parents. Kristina in Texas found the same community. Amanda, too.
 

‘The margin of error is a human life’

On a warm and cloudy day this past June, on what would have been their daughter’s first birthday, Amanda and her husband visited her grave. They brought a unicorn balloon and vanilla cake, which they ate nearby on the grass. Her husband read a poem.

To them, their baby had been perfect. She had fingers and toes. A thatch of dark hair. While in intensive care, peering up at her parents, she grabbed for her mother’s hand.

Had her condition been known, they would’ve spared her futile medical interventions, as doctors tried to save her life. Their family priest would have been able to baptize her. As it was, they never got to hold their child while she was alive.

These days, when Amanda and her husband say grace before dinner, they give thanks for the 28 hours of their daughter’s life.

They’re also thinking about making comfort boxes the hospital could give to other parents who lose a child. It might include books on grief. Softer tissues. Something that says, as Amanda puts it, “This is to help you get through.”

Amid their grief, they had a prayer answered: Amanda is pregnant again.

It’s frightening to go through this again. She barely sleeps the night before visiting the doctor. It feels like she never stopped being pregnant. It will feel that way, she said, until she brings a baby home – one who lives past the first 2 nights.

Amanda planned to get another genetic screening test. At first she couldn’t bear it, wasn’t sure she could trust it. “The margin of error is a human life,” Amanda said.

The 10-week appointment passed. Then the 12-week appointment. After her 13th week, she took the plunge. The test she was given was from Labcorp.

Around this time, more than a year after Amanda had desperately tried to alert the company about what had happened to her and her first baby, she finally heard back. Labcorp’s vice president of genetic counseling and services reached out – after ProPublica contacted the company and shared Amanda’s story.

The executive would only speak to Amanda without a reporter present.

Amanda said that during the call, the executive told her that prenatal genetic tests are evolving, and doctors should be clear about what the screenings can and cannot do. By the end of the conversation, the executive offered Amanda her cell number.

Amanda said she appreciated the call. “I feel better. I feel like I got something.”

The same day, her screening results came back. They were negative.
 

This story was originally published on ProPublica. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive their biggest stories as soon as they’re published.

Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.

Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.

“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”

Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”

For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”

As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.

It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)

On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.

“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.

She phoned Labcorp a second time. The call ended when an employee hung up on her.

Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?

If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.

But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.

The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.

Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.

Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”

The risk of false positives from prenatal screenings, in particular, has been known for years.

In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.

Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.

“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.

The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.

The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”

The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.

Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.

Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)

Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.

Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.

For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.

When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.

But others had more questions than answers. None more so than Amanda.

“What are these tests?” she wondered. “And how did mine end up in the margin of error?”
 

‘They started using it on humans, and then they went back and said: “Was our test accurate?” ’

Scientists have long tried to find ways to help parents and doctors understand what’s happening inside the womb. Amniocentesis was first used to reveal genetic anomalies in the late 1960s. But it didn’t become more popular until it began to be paired with ultrasound to precisely guide the procedure.

In the 1980s, doctors started using chorionic villus sampling, or CVS, an analysis of placental tissue that offers a diagnosis earlier in pregnancy. But, like amniocentesis, it is an invasive test that involves some risk to the fetus, though experts say it’s exceptionally low.

A breakthrough came in the late 1990s, when a scientist recognized that free-floating placental DNA could be detected in the mother’s blood. This meant that the fetus’s chromosomes could be examined by collecting a blood sample as soon as 9 weeks into pregnancy. This also provides an early opportunity to learn the likely fetal sex – a particularly popular feature.

Champions of the new science celebrated the arrival of a simple technique for patients that was particularly precise, at least for some conditions. Many favored it over other noninvasive options. But the industry that developed around NIPT has been marred by controversy from the beginning.

Dr. Ronald Wapner, director of reproductive genetics at Columbia University, described that time as “very chaotic.”

The tests had not been appropriately evaluated in clinical practice, said Dr. Wapner, whose research has sometimes been funded by testing companies. Because of this, he said, the industry “had very incomplete data on how well it worked.”

That didn’t stop the excitement. The chief executive of Sequenom, a biotechnology company that planned to release the first NIPT for Down syndrome, championed the company as the “Google of Molecular Diagnostics.” Its stock price soared.

Then, about 2 months before an expected launch in 2009, Sequenom killed the plan. The company’s research director, it turned out, had manipulated testing data and made misleading claims about how well the screening worked.

The U.S. Securities and Exchange Commission and Federal Bureau of Investigation opened investigations. Top executives were fired, and the research director pleaded guilty to conspiracy to commit securities fraud. Sequenom still managed to commercialize the test in 2011. (Labcorp, which later acquired Sequenom, said it uses a different kind of test.)

Other companies soon debuted their own tests. Still, there was little data on their clinical performance, researchers said.

As Megan Allyse, a bioethicist at the Mayo Clinic, put it, the companies “launched the test, they started using it on humans, and then they went back and said, ‘Was our test accurate?’ ” She also questioned the lack of attention to the ethics of how tests are presented to patients.

Despite missteps by the industry, the FDA didn’t scrutinize the screenings because they were considered lab-developed tests, which means they are created by the same laboratory that conducts them.

In 1976, Congress revamped oversight over medical devices. Since then, the FDA has effectively exempted such “home-brew” tests from key regulatory requirements. The idea was that when, say, a hospital lab wanted to create a simple test for its own patients, it was spared the time, money, and hassle of getting approval from Washington bureaucrats.

Today, lab-developed tests are vastly more numerous and complex. Because they aren’t registered with the federal government, nobody knows how many exist.

The distinction between tests the FDA actively regulates and those they don’t can seem nonsensical. It isn’t based on the complexity of the tests, or how people use them. It’s simply a matter of where the test is made.

The prenatal genetic screening industry took off almost immediately, powered by an army of aggressive sales representatives.

“At the very beginning, obstetricians in practice were being just completely inundated with visits from the sales reps,” said Dr. John Williams, director of reproductive health at Cedars-Sinai Medical Center in Los Angeles. The push left many ob.gyns. and patients thinking the screenings were accurate enough to substitute for diagnostic tests, such as amniocentesis or CVS.

In some cases, sales tactics escalated into lawbreaking.

Former Sequenom executives who exited during the fraud scandal created a new company that became Progenity, which also offered prenatal screening. Shortly after the company went public in 2020, it finalized a $49 million settlement with federal and state governments, where it admitted to falsifying insurance claims and giving kickbacks to physicians and their staff. According to a legal filing, one sales rep spent $65,658 on meals and alcohol for physicians in 1 year.

Now called Biora Therapeutics, the company said in a statement it no longer does any laboratory testing, including prenatal screenings.

Industry revenue continues to grow, but some testing companies are still fighting to make a profit, and competition to survive is fierce. “There’s a multibillion-dollar market, and they all want a piece of it,” said a former Progenity sales rep who quit in disgust after 5 months in 2016.

The rep, who requested anonymity because she continues to work in the field, said she still sees competitors from NIPT companies visiting medical practices “every week, buying breakfast or dinner, or taking them out for happy hour.”

Over time, companies pointed to new peer-reviewed studies, research the industry itself funded, to earn the confidence of doctors and other stakeholders. They showed that two tests – for Down syndrome and trisomy 18 – often performed better than other screening methods.

This research was valid, said Dr. Mary Norton, a perinatologist and clinical geneticist at the University of California, San Francisco, Medical Center’s prenatal diagnostic center. Considered a leading researcher in the field, she was an author of many of these key industry-funded studies.

But, she said, when research findings were presented publicly, the companies sometimes downplayed “inconvenient truths,” such as the exclusion of inconclusive results from accuracy estimates. Crucial caveats were also glossed over by some companies when they translated research into promotional copy aimed at health care providers and patients. Those materials didn’t always mention the many factors that can limit the performance of the screenings, including high body weight, the rarity of the condition tested, and younger maternal age.

Testing companies said they try to help patients understand the screenings through online resources and other materials. Some offer genetic counseling services.

The younger a person is, the lower the test’s positive predictive value – that is, the probability that a positive screening result will turn out to be correct – will be for some conditions. For instance, because Down syndrome is less prevalent in younger people’s pregnancies, a positive screening test is more likely to be a false positive for them.

Kristina was 30 years old in 2016, when her Progenity test came back positive for Down syndrome. She and her husband, who asked not to be fully named to protect their privacy, said they didn’t plan to carry a pregnancy with this condition to term.

But waiting to get an amniocentesis, and then waiting for the results, took 5 agonizing weeks, she said. It showed her son did not have Down syndrome.

Kristina, who lives in Texas, is still troubled by what she describes as a traumatic experience.

“I researched both late-term abortion providers and cemeteries,” she said. They even picked out a burial place, near their house.

She bought a blue baby blanket she intended to bury the baby’s tiny body in. She still has it. Her son, now 5, sleeps with it every night.
 

‘I can’t believe I didn’t say more’

As lab-developed tests became a bigger business, moving well past their home-brew origins, regulators looked for a way to assert oversight. In 2014, after years of study and debate, the time seemed right.

The FDA released plans proposing to regulate the tests, prioritizing those used to make major medical decisions. The agency has pointed to NIPTs as 1 of 20 concerning tests.

But, over the next 2 years, a coalition of power players urged the FDA to back off. Professional associations issued statements and hosted webinars devoted to the issue. Some created polished websites featuring sample letters to send to Washington.

Academic medical centers and pathology departments joined the fight, too. Scientists from 23 of them put it bluntly in a letter to the Office of Management and Budget: “FDA regulation of LDTs would be contrary to the public health,” it said, using a common acronym for the tests.

“Critical testing would be unavailable in the ‘lag time’ between development of new tests and FDA authorizing them,” the authors of the letter wrote, “and subsequent improvements on existing tests would slow significantly under the rigid, inflexible, and duplicative FDA regulatory scheme.”

This could delay essential care for patients. What’s more, opponents argued, existing lab reviews by the Centers for Medicare and Medicaid Services are sufficiently rigorous. Some have suggested modernizing the CMS review process to improve oversight.

An FDA spokesperson told ProPublica that the agency encountered “continued, negative feedback,” including a 25-page paper written by two legal heavyweights hired by the American Clinical Laboratory Association: Paul Clement, President George W. Bush’s former solicitor general, and Laurence Tribe, law professor at Harvard University.

Mr. Clement has reportedly commanded rates of $1,350 per hour. He and Mr. Tribe did not respond to ProPublica’s queries about their work.

Their brief argued that the FDA “lacked legal authority” to regulate lab-developed tests because they are properly seen as the practice of medicine: a service, rather than a product.

However, as lawyers representing the American Association of Bioanalysts countered, the FDA would vet tests before they reach the market, not control how doctors use them. The government proposal, they wrote, is “similar to imposing requirements to screen blood or label drugs.”

After the election of President Donald Trump, but before he took office, a handful of FDA officials discussed their battered proposal. It had represented a breakthrough in the decades of excruciating back-and-forth with industry. But now, with an incoming administration bent on deregulation, their efforts seemed futile.

The regulators feared anything they enacted would be undone by Congress – and, under the Congressional Review Act, they might not be able to reissue anything “substantially similar” in the future. So the FDA published a white paper instead, summarizing the issue “for further public discussion.”

After the meeting where officials made this call, Mr. Lurie, then the FDA’s associate commissioner, recalled a colleague approaching him: “I can’t believe you didn’t say more.”

“And I was like, ‘Yeah, actually, I can’t believe I didn’t say more either,’ ” Mr. Lurie later told ProPublica. (After leaving the agency, Mr. Lurie went on to lead the Center for Science in the Public Interest, a consumer advocacy nonprofit, which has pushed the FDA to finally assert oversight over lab-developed tests.)

Nancy Stade, an attorney and senior policy official who left the FDA in 2015, said the agency often moves slowly as it seeks to get buy-in from industry and professional groups. In her work on regulatory policy, she saw it happen with lab-developed tests.

The agency is “always testing the waters,” she said, “and always coming out with something a little bit softer.”

In 2020, the influential American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, representing doctors who handle pregnancies, gave the screening industry another huge boost.

In a bulletin updating their advice on the tests, the two groups described growing research on the performance of some of the standard tests and said people have the right to information about their pregnancies, so the tests should be offered to all patients. Previously, they recommended this only for those facing higher risk of genetic anomalies.

The bulletin said the coauthors had disclosed no conflicts of interest. But two of the four coauthors, including Mary Norton, had disclosed in prior publications that test-makers had provided funding for their research. A company had provided a third coauthor with laboratory services needed to run tests, according to that researcher, a connection she also disclosed in past papers.

ACOG, in a statement to ProPublica, said the organization “identified no conflicts because research funding is provided to academic institutions with institutional review boards, not to individual investigators.” Two of the three researchers responded to questions from ProPublica and said they maintained independence over their work.

One test-maker, Illumina, celebrated the ACOG guidance in a tweet, saying it “recognizes the superior performance of #NIPT and the benefit it provides expectant families.” Natera’s share prices doubled in 5 months. UnitedHealthcare, the nation’s largest private insurer and long a target of industry lobbying, told ProPublica it changed its stance to cover screenings for all patients, regardless of risk, because of the recommendation.

In a recent shareholder report, Natera stated that prenatal genetic and carrier screenings “represent the significant majority of our revenues,” which totaled $625.5 million in 2021. The company expects more growth to come.

“The NIPT market is still very underpenetrated, compared to the 4 to 5 million pregnancies in the U.S.,” Natera’s chief executive said on a 2021 earnings call, “so there’s a long way to go.”

But even Dr. Norton, who coauthored the ACOG recommendation and favors NIPTs for patients 40 and over, has concerns about screenings becoming widespread among those who are younger. In most cases, she prefers other screening methods that catch the nongenetic problems younger moms are more likely to face. Negative results from an NIPT, she said, can be “falsely reassuring.”

In the years after the FDA set aside its regulatory proposal, the agency has assisted members of Congress on a proposed legislative solution. That effort, dubbed the VALID Act, aims to end any debate over the agency’s authority over lab-developed tests. An FDA press officer said the legislation would ensure the prenatal screening tests and others are “accurate and reliable.”

But, as in the past, intense lobbying followed the proposal. The VALID Act was a rider to a funding reauthorization bill, but in September the House and Senate agreed to remove it. Advocates now hope to attach it to proposed end-of-year legislation.

Meanwhile, earlier this year, 4 months after the New York Times story on the usefulness of some screenings, the FDA took a step toward more public awareness about prenatal genetic screening. It issued its first safety communication on them, noting the potential for false results.

It cautioned patients about making “critical health care decisions based on results from these screening tests alone.”

Cara Tenenbaum, a former FDA policy advisor, was pleased to see the statement. Still, she said, it was long overdue.

“This has been known – known, or should have been known – for 10 years,” she said.
 

‘It had me so messed up’

With the demise of Roe v. Wade, restrictive and ever-changing abortion laws can pressure people to act quickly with limited information, heightening the stakes of prenatal screening.

Julia, a mom from Mississippi’s Gulf Coast, knows what it’s like to face harrowing consequences while navigating state-imposed time limits – and doing so with little guidance. Last fall, she was pregnant with her fourth child when, she said, a nurse practitioner suggested prenatal genetic screening.

At 33, Julia had no risk factors. Her previous pregnancies hadn’t been screened with an NIPT. But with three sons and 18 nephews, she and her husband were curious about the baby’s sex. And the screening seemed like it had no downside.

Julia figured it would only be offered if it was reliable, so her nurse practitioner ordered her both the basic bundle of screenings and the extra tests. (The medical practice didn’t respond to interview requests. Julia is a family nickname that’s used here to protect her privacy.)

The screenings showed the baby was a girl – but the extra tests also detected trisomy 16, a condition caused by an extra chromosome that is so rare, the nurse didn’t know what it was, Julia recalled.

The nurse borrowed Julia’s phone, using it to search online and read aloud what she found. Julia was stunned to hear trisomy 16 was incompatible with life.

“I was utterly devastated,” she said. “I made it out of my doctor’s office but completely broke down in the car.”

But ACOG does not recommend the trisomy 16 screening, saying “its accuracy with regard to detection and the false-positive rate is not established.” Julia wasn’t informed of this, she said, and she’s not sure if her health care providers knew it either.

The lab report recommended diagnostic testing to confirm the results, but time was short. She had her amniocentesis at 17 weeks. It could take up to 4 more weeks to receive results.

That would be too late for a legal abortion in Mississippi. So she made an appointment for one in Florida, where the cutoff was 24 weeks. (It’s now 15 weeks in Florida, while Mississippi went from 15 weeks for legal procedures to a ban on nearly all abortions.)

The wait was excruciating. Julia was driving twice a week to New Orleans for specialized care. With work and child care, it was too hard. She quit the teaching job she loved.

One winter night, she felt the fetus move for the first time – ordinarily a milestone, but now, facing a fatal prognosis, she didn’t want to get attached. “It had me so messed up,” she said.

On the way to the amniocentesis, Julia and her husband chose a name. Drawing from a language conjured by J.R.R. Tolkien in the fantasy novels they love, it means “hope.”

More than halfway through her pregnancy, the amnio results arrived. The prenatal screening had given a false positive. The baby would be fine. In May, Julia gave birth to a healthy daughter.

Julia and her husband are upset about the needless anguish brought on by the screening. “They like to have it both ways,” said Julia’s husband. “They say they are 99% accurate, but when there’s a false positive, they say, ‘Well, we’re not diagnostic.’ ”

Believing the prenatal screening was likely accurate, they had seriously considered canceling the amniocentesis, saving their limited funds for an abortion in Florida, hundreds of miles away.

Their dilemma points to a longtime concern: ending pregnancies based on false positives. The FDA cited it as a risk as far back as 2015. Now, those with positive results are facing an even tighter time crunch. They must consider whether waiting for a definitive test, and possibly traveling to another state for an abortion later in pregnancy, is worth it.

In their promotional material, some companies not only sidestep the variability of the standard tests, they fail to distinguish them from the least reliable ones – those for exceptionally rare conditions. They tout the extra screenings as “premium,” “plus,” or “advanced” options.

“Going to greater lengths for the answers that matter most,” says a brochure aimed at health care providers from test-maker Illumina. Elsewhere it states that the “expanded” panel of tests provides “confident results” and “the additional insights you need.”

But the companies themselves know the accuracy of some of their tests has yet to be established in the research. Natera acknowledged in a recent shareholder report that many insurers won’t pay for screenings for missing chromosomal fragments, known as microdeletions, in part because there isn’t enough published data behind them.

The company, responding to ProPublica, stressed the quality of the data over the quantity, saying the research so far has been favorable. “Natera’s microdeletion testing was thoroughly validated with results published in peer-reviewed publications,” it said in a statement.

Natera pointed to a recent study that looked at DiGeorge syndrome, one of several chromosomal anomalies it checks for with its microdeletion screenings. Researchers found the positive predictive value (PPV) of the test to be 52.6%, meaning that nearly half of positive results are false positives. (For many patients, PPVs for more common conditions can exceed 90%.)

Natera said the performance of the diGeorge syndrome test “is excellent and not considered a low PPV,” because of the condition being extremely rare.

Companies also play up the danger of diagnostic tests like amnio. They “can cause miscarriages,” warns the marketing from Labcorp, which made Amanda’s screening, while its test “does not cause miscarriages.” But medical experts emphasize that diagnostic tests, such as amniocentesis, are more accurate and, in fact, carry little risk to the pregnancy.

Labcorp, in a statement, said the company “acknowledges the well-documented risk associated with amniocentesis and CVS in our literature. It is the patient’s prerogative to decide which risks they are willing or unwilling to take.”

Marketing claims also sometimes skate over the nuances in the guidance from the leading professional societies. On a webpage targeting health care providers, for example, a Labcorp chart said groups such as ACOG “endorse and/or recognize” prenatal screenings as an option for all pregnancies. But the chart listed screenings ACOG does not recommend, including trisomy 16.

When asked about it, Labcorp said in a statement that ACOG “endorses NIPS for all pregnancies.” In fact, the guidance is not so sweeping. It says only that the basic bundle of tests should be offered to all, alongside other screening options. It explicitly advises providers to not offer patients the extra tests.

Soon after ProPublica’s query, the Labcorp webpage was updated to remove any mention of the professional societies.

Patients say they often don’t know where to turn for informed and unbiased information. That’s why the r/NIPT Reddit page became such a robust community. Facing difficult news, Julia turned to it for counsel from other prospective parents. Kristina in Texas found the same community. Amanda, too.
 

‘The margin of error is a human life’

On a warm and cloudy day this past June, on what would have been their daughter’s first birthday, Amanda and her husband visited her grave. They brought a unicorn balloon and vanilla cake, which they ate nearby on the grass. Her husband read a poem.

To them, their baby had been perfect. She had fingers and toes. A thatch of dark hair. While in intensive care, peering up at her parents, she grabbed for her mother’s hand.

Had her condition been known, they would’ve spared her futile medical interventions, as doctors tried to save her life. Their family priest would have been able to baptize her. As it was, they never got to hold their child while she was alive.

These days, when Amanda and her husband say grace before dinner, they give thanks for the 28 hours of their daughter’s life.

They’re also thinking about making comfort boxes the hospital could give to other parents who lose a child. It might include books on grief. Softer tissues. Something that says, as Amanda puts it, “This is to help you get through.”

Amid their grief, they had a prayer answered: Amanda is pregnant again.

It’s frightening to go through this again. She barely sleeps the night before visiting the doctor. It feels like she never stopped being pregnant. It will feel that way, she said, until she brings a baby home – one who lives past the first 2 nights.

Amanda planned to get another genetic screening test. At first she couldn’t bear it, wasn’t sure she could trust it. “The margin of error is a human life,” Amanda said.

The 10-week appointment passed. Then the 12-week appointment. After her 13th week, she took the plunge. The test she was given was from Labcorp.

Around this time, more than a year after Amanda had desperately tried to alert the company about what had happened to her and her first baby, she finally heard back. Labcorp’s vice president of genetic counseling and services reached out – after ProPublica contacted the company and shared Amanda’s story.

The executive would only speak to Amanda without a reporter present.

Amanda said that during the call, the executive told her that prenatal genetic tests are evolving, and doctors should be clear about what the screenings can and cannot do. By the end of the conversation, the executive offered Amanda her cell number.

Amanda said she appreciated the call. “I feel better. I feel like I got something.”

The same day, her screening results came back. They were negative.
 

This story was originally published on ProPublica. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive their biggest stories as soon as they’re published.

NASHVILLE, TENN. – There is no negative impact of in utero exposure to antiseizure medications on children’s creativity, new research shows.

The results of this study, along with other research, suggest the risk for cognitive problems “is fairly low” overall for children of women with epilepsy taking lamotrigine or levetiracetam, study investigator, Kimford J. Meador, MD, professor, department of neurology & neurological sciences, Stanford (Calif.) University School of Medicine, told this news organization.

“This is another encouraging piece that’s showing these new drugs are safe with regard to cognition.”

The findings were presented at the annual meeting of the American Epilepsy Society.
 

Capturing creativity

Fetal exposure to antiseizure medications can produce adverse neurodevelopmental effects. These are typically assessed using measures such as general intelligence, verbal/nonverbal abilities, or additional educational needs.

However, these measures don’t capture creativity, which “is related to intelligence but not completely,” said Dr. Meador. “I have seen wonderful examples of creativity in people who have a lot of cognitive impairment.”

He referred to one of his patients with epilepsy who is “spectacularly good” at painting with watercolors, even though she has significant cognitive impairment.

The new analysis is part of the MONEAD study, a prospective, observational multicenter study examining pregnancy outcomes for both mother and child. It included pregnant women who were enrolled at under 20 weeks’ gestational age.

The women with epilepsy in the study were primarily on monotherapy (73%), and of these, 82% were on lamotrigine or levetiracetam. About 22% were on polytherapy, of which 42% were on dual therapy with lamotrigine and levetiracetam.
 

Fluency, originality

Researchers assessed the children of these women at age 4½ years using the Torrance Test of Creative Thinking-Figural (TTCT-F). This is a standardized assessment of creative thinking with index scores measuring such things as fluency, originality, abstractness, and elaboration.

Dr. Meador noted the research team used a shorter version of the test battery “so as to not wear out the families and kids.”

During the test, children were given lines of different shapes and asked to draw a picture using these lines. Dr. Meador pointed out the drawings ranged from quite basic to more intricate.

One child cleverly turned a few squiggly lines into a car. “I can look at this and say this kid’s going to do very well,” said Dr. Meador.

Investigators compared scores between 241 children of women with epilepsy (WWE) and 65 children of healthy women (HW). They adjusted for the mother’s IQ, education level, age at enrollment, gestation age at enrollment, post-birth average anxiety score, and the child’s ethnicity and sex.

Investigators found the mean TTCT-F scores did not differ significantly between the two groups: adjusted least squares mean of 89.5 (95% confidence interval, 86.7-92.3) for children of WWE, compared with adjusted least square mean of 92.0 (95% CI, 86.4-97.6) for children of HW.
 

Balancing act

The researchers haven’t looked at a dose effect in this current study, but Dr. Meador said it’s always “a balancing act” between giving enough of the drug to keep mothers from seizing, which affect both the mother and fetus, and giving as low a dose as possible to protect the fetus.

In addition, as medication levels change during pregnancy, he said he recommends that drug levels are monitored monthly so that medication can be adjusted as necessary.

Looking at what factors might predict creativity scores, researchers found children did less well creatively if their mother didn’t have a college degree (estimate –9.5; 95% CI, –17.9 to –1.2; P = .025).

“It looks like being in a home where the mother has had more education is going to have an impact on the kid’s thinking and creativity,” said Dr. Meador.

These new findings are consistent with a lack of differences in other cognitive abilities that Dr. Meador and his team found when the children were younger.

“At age 3, we did not find an overall difference in cognitive and verbal abilities and intelligence between the children of mothers with epilepsy and those of healthy women,” he said.

The researchers aim to assess cognitive and behavioral outcomes in these children when they are 6 years old.
 

Helpful information

Commenting on the findings, Stéphane Auvin, MD, PhD, chair of the department of pediatric neurology at the University of Paris, who co-moderated a platform session featuring the research, said the study “is an interesting measure of the impact of being exposed to antiseizure medications.”

Creativity is “complex,” he said. “It’s not only cognition; it could be things like behavior and impulsivity.”

The new information is “very helpful.” Focusing on something broader than just IQ “gives you a better picture of what’s going on.”

The study received funding from NIH, NINDS, and NICH. Dr. Meador has received grants from NIH/NINDS, NIH/NICHD, Veterans Administration, and Eisai. He has been a consultant for Epilepsy Consortium, Novartis, Supernus, Upsher Smith Labs, and UCB Pharma. Dr. Auvin reports no relevant financial relationships.

A version of this article first appeared on Medscape.com.

NASHVILLE, TENN. – There is no negative impact of in utero exposure to antiseizure medications on children’s creativity, new research shows.

The results of this study, along with other research, suggest the risk for cognitive problems “is fairly low” overall for children of women with epilepsy taking lamotrigine or levetiracetam, study investigator, Kimford J. Meador, MD, professor, department of neurology & neurological sciences, Stanford (Calif.) University School of Medicine, told this news organization.

“This is another encouraging piece that’s showing these new drugs are safe with regard to cognition.”

The findings were presented at the annual meeting of the American Epilepsy Society.
 

Capturing creativity

Fetal exposure to antiseizure medications can produce adverse neurodevelopmental effects. These are typically assessed using measures such as general intelligence, verbal/nonverbal abilities, or additional educational needs.

However, these measures don’t capture creativity, which “is related to intelligence but not completely,” said Dr. Meador. “I have seen wonderful examples of creativity in people who have a lot of cognitive impairment.”

He referred to one of his patients with epilepsy who is “spectacularly good” at painting with watercolors, even though she has significant cognitive impairment.

The new analysis is part of the MONEAD study, a prospective, observational multicenter study examining pregnancy outcomes for both mother and child. It included pregnant women who were enrolled at under 20 weeks’ gestational age.

The women with epilepsy in the study were primarily on monotherapy (73%), and of these, 82% were on lamotrigine or levetiracetam. About 22% were on polytherapy, of which 42% were on dual therapy with lamotrigine and levetiracetam.
 

Fluency, originality

Researchers assessed the children of these women at age 4½ years using the Torrance Test of Creative Thinking-Figural (TTCT-F). This is a standardized assessment of creative thinking with index scores measuring such things as fluency, originality, abstractness, and elaboration.

Dr. Meador noted the research team used a shorter version of the test battery “so as to not wear out the families and kids.”

During the test, children were given lines of different shapes and asked to draw a picture using these lines. Dr. Meador pointed out the drawings ranged from quite basic to more intricate.

One child cleverly turned a few squiggly lines into a car. “I can look at this and say this kid’s going to do very well,” said Dr. Meador.

Investigators compared scores between 241 children of women with epilepsy (WWE) and 65 children of healthy women (HW). They adjusted for the mother’s IQ, education level, age at enrollment, gestation age at enrollment, post-birth average anxiety score, and the child’s ethnicity and sex.

Investigators found the mean TTCT-F scores did not differ significantly between the two groups: adjusted least squares mean of 89.5 (95% confidence interval, 86.7-92.3) for children of WWE, compared with adjusted least square mean of 92.0 (95% CI, 86.4-97.6) for children of HW.
 

Balancing act

The researchers haven’t looked at a dose effect in this current study, but Dr. Meador said it’s always “a balancing act” between giving enough of the drug to keep mothers from seizing, which affect both the mother and fetus, and giving as low a dose as possible to protect the fetus.

In addition, as medication levels change during pregnancy, he said he recommends that drug levels are monitored monthly so that medication can be adjusted as necessary.

Looking at what factors might predict creativity scores, researchers found children did less well creatively if their mother didn’t have a college degree (estimate –9.5; 95% CI, –17.9 to –1.2; P = .025).

“It looks like being in a home where the mother has had more education is going to have an impact on the kid’s thinking and creativity,” said Dr. Meador.

These new findings are consistent with a lack of differences in other cognitive abilities that Dr. Meador and his team found when the children were younger.

“At age 3, we did not find an overall difference in cognitive and verbal abilities and intelligence between the children of mothers with epilepsy and those of healthy women,” he said.

The researchers aim to assess cognitive and behavioral outcomes in these children when they are 6 years old.
 

Helpful information

Commenting on the findings, Stéphane Auvin, MD, PhD, chair of the department of pediatric neurology at the University of Paris, who co-moderated a platform session featuring the research, said the study “is an interesting measure of the impact of being exposed to antiseizure medications.”

Creativity is “complex,” he said. “It’s not only cognition; it could be things like behavior and impulsivity.”

The new information is “very helpful.” Focusing on something broader than just IQ “gives you a better picture of what’s going on.”

The study received funding from NIH, NINDS, and NICH. Dr. Meador has received grants from NIH/NINDS, NIH/NICHD, Veterans Administration, and Eisai. He has been a consultant for Epilepsy Consortium, Novartis, Supernus, Upsher Smith Labs, and UCB Pharma. Dr. Auvin reports no relevant financial relationships.

A version of this article first appeared on Medscape.com.

NASHVILLE, TENN. – There is no negative impact of in utero exposure to antiseizure medications on children’s creativity, new research shows.

The results of this study, along with other research, suggest the risk for cognitive problems “is fairly low” overall for children of women with epilepsy taking lamotrigine or levetiracetam, study investigator, Kimford J. Meador, MD, professor, department of neurology & neurological sciences, Stanford (Calif.) University School of Medicine, told this news organization.

“This is another encouraging piece that’s showing these new drugs are safe with regard to cognition.”

The findings were presented at the annual meeting of the American Epilepsy Society.
 

Capturing creativity

Fetal exposure to antiseizure medications can produce adverse neurodevelopmental effects. These are typically assessed using measures such as general intelligence, verbal/nonverbal abilities, or additional educational needs.

However, these measures don’t capture creativity, which “is related to intelligence but not completely,” said Dr. Meador. “I have seen wonderful examples of creativity in people who have a lot of cognitive impairment.”

He referred to one of his patients with epilepsy who is “spectacularly good” at painting with watercolors, even though she has significant cognitive impairment.

The new analysis is part of the MONEAD study, a prospective, observational multicenter study examining pregnancy outcomes for both mother and child. It included pregnant women who were enrolled at under 20 weeks’ gestational age.

The women with epilepsy in the study were primarily on monotherapy (73%), and of these, 82% were on lamotrigine or levetiracetam. About 22% were on polytherapy, of which 42% were on dual therapy with lamotrigine and levetiracetam.
 

Fluency, originality

Researchers assessed the children of these women at age 4½ years using the Torrance Test of Creative Thinking-Figural (TTCT-F). This is a standardized assessment of creative thinking with index scores measuring such things as fluency, originality, abstractness, and elaboration.

Dr. Meador noted the research team used a shorter version of the test battery “so as to not wear out the families and kids.”

During the test, children were given lines of different shapes and asked to draw a picture using these lines. Dr. Meador pointed out the drawings ranged from quite basic to more intricate.

One child cleverly turned a few squiggly lines into a car. “I can look at this and say this kid’s going to do very well,” said Dr. Meador.

Investigators compared scores between 241 children of women with epilepsy (WWE) and 65 children of healthy women (HW). They adjusted for the mother’s IQ, education level, age at enrollment, gestation age at enrollment, post-birth average anxiety score, and the child’s ethnicity and sex.

Investigators found the mean TTCT-F scores did not differ significantly between the two groups: adjusted least squares mean of 89.5 (95% confidence interval, 86.7-92.3) for children of WWE, compared with adjusted least square mean of 92.0 (95% CI, 86.4-97.6) for children of HW.
 

Balancing act

The researchers haven’t looked at a dose effect in this current study, but Dr. Meador said it’s always “a balancing act” between giving enough of the drug to keep mothers from seizing, which affect both the mother and fetus, and giving as low a dose as possible to protect the fetus.

In addition, as medication levels change during pregnancy, he said he recommends that drug levels are monitored monthly so that medication can be adjusted as necessary.

Looking at what factors might predict creativity scores, researchers found children did less well creatively if their mother didn’t have a college degree (estimate –9.5; 95% CI, –17.9 to –1.2; P = .025).

“It looks like being in a home where the mother has had more education is going to have an impact on the kid’s thinking and creativity,” said Dr. Meador.

These new findings are consistent with a lack of differences in other cognitive abilities that Dr. Meador and his team found when the children were younger.

“At age 3, we did not find an overall difference in cognitive and verbal abilities and intelligence between the children of mothers with epilepsy and those of healthy women,” he said.

The researchers aim to assess cognitive and behavioral outcomes in these children when they are 6 years old.
 

Helpful information

Commenting on the findings, Stéphane Auvin, MD, PhD, chair of the department of pediatric neurology at the University of Paris, who co-moderated a platform session featuring the research, said the study “is an interesting measure of the impact of being exposed to antiseizure medications.”

Creativity is “complex,” he said. “It’s not only cognition; it could be things like behavior and impulsivity.”

The new information is “very helpful.” Focusing on something broader than just IQ “gives you a better picture of what’s going on.”

The study received funding from NIH, NINDS, and NICH. Dr. Meador has received grants from NIH/NINDS, NIH/NICHD, Veterans Administration, and Eisai. He has been a consultant for Epilepsy Consortium, Novartis, Supernus, Upsher Smith Labs, and UCB Pharma. Dr. Auvin reports no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Sunscreens marketed to individuals with skin of color are generally more expensive than products broadly marketed to consumers, and more than 40% contain a UV blocker that may create a white cast.

Ridofranz / iStock / Getty Images

Those are among the findings from a study by Michelle Xiong, a medical student at Brown University, Providence, R.I., and Erin M. Warshaw, MD, of the department of dermatology at Park Nicollet/Health Partners Health Services, Minneapolis, which was published online in the Journal of the American Academy of Dermatology.

“There is increasing awareness of the negative effects of ultraviolet (UV) light in individuals with skin of color (SOC), especially in regards to pigmentation disorders induced and/or exacerbated by UV exposure,” the authors wrote. “As a result, there has been a surge in sunscreens marketed to this population. We aimed to characterize cost, marketing claims, and potential allergenic ingredients in sunscreens marketed to individuals with SOC.”

Between December 2021 and October 2022, the researchers used the following search terms on Google: “sunscreen” plus “skin of 36 color,” “dark skin,” “brown skin,” “LatinX skin,” and/or “Black skin.” They extracted price, marketing claims, and ingredients from manufacturers’ websites and used 90 allergens contained in the American Contact Dermatitis Society 2020 Core series to identify potential allergens. Next, they combined cross-reactors/synonyms into allergen categories based on ACDS Contact Allergen Management Plan (CAMP) cross-reactor classification. If multiple ingredients in a sunscreen were represented by a single allergen category, it was counted only once. A similar approach was utilized for marketing categories.

A total of 12 sunscreens were included in the analysis: Absolute Joi, Black Girl Sunscreen, Black Girl Sunscreen Make It Matte, Bolden SPF Brightening Moisturizer, Eleven on the Defense Unrivaled Sun Serum, Kinlo Golden Rays Sunscreen, Live Tinted Hueguard 3-in-1 Mineral Sunscreen, Mele Dew The Most Sheer Moisturizer SPF30 Broad Spectrum Sunscreen, Mele No Shade Sunscreen Oil, Specific Beauty Active Radiance Day Moi, Unsun Mineral Sunscreen, and Urban Skin Rx Complexion Protection. Their average cost was $19.30 per ounce (range, $6.33-$50.00) and common marketing claims for these products were “no white cast” (91.7%), being free of an ingredient (83.3%), and “moisturizing” (75%).

Of the 12 sunscreens, 7 (58.3%) contained a chemical sunscreen agent, 5 (41.7%) contained a physical UV blocker, and all contained at least one allergen. The average number of allergens per product was 4.7, most commonly fragrance/botanicals (83.3%), tocopherol (83.3%), sodium benzoates/derivatives (58.3%), and sorbitan sesquiolate/derivatives (58.3%).

“Average cost of sunscreens marketed to individuals with SOC was $19.30/oz, much higher than the median price of $3.32/oz reported in a separate study of 65 popular sunscreens,” the study authors wrote. “As many of the sunscreens in our study were sold by smaller businesses, higher prices may be due to higher production costs or a perceived smaller market.”

The authors expressed surprise that five sunscreens marketed to individuals with SOC contained a physical UV blocker which may create a white cast. They contacted the manufacturers of these five sunscreens and confirmed that three used micronized formulations. “While ingested/inhaled nanoparticles of titanium dioxide may cause tissue effects, most studies of topical products show excellent safety,” they wrote.

They also noted that the average of 4.7 allergens per product observed in the analysis was similar to the average of 4.9 seen in a separate study of 52 popular sunscreens. “However, that study only included 34 allergens while this study evaluated 90 allergens,” the authors wrote. “Consumers and providers should be aware sunscreens marketed to individuals with SOC may cause allergic contact dermatitis,” they commented.

“It is interesting to see how costly these products are now compared to store bought and general commercially available sunscreens several years ago,” said Lawrence J. Green, clinical professor of dermatology at George Washington University, Washington, who was asked to comment on the study. “However, to me that is not surprising as products marketed and targeted to specific populations are often priced at a premium. It wasn’t clear to me how many of these specialized online SOC sunscreens are tinted. I wish the authors had compared the cost of tinted sunscreens in general to nontinted sunscreens because tinted ones are more useful for SOC, because when rubbed in, they can readily match SOC and can also offer protection in the visible light spectrum.”

The authors reported having no financial disclosures; the study had no funding source. Dr. Green disclosed that he is a speaker, consultant, or investigator for many pharmaceutical companies.

Sunscreens marketed to individuals with skin of color are generally more expensive than products broadly marketed to consumers, and more than 40% contain a UV blocker that may create a white cast.

Ridofranz / iStock / Getty Images

Those are among the findings from a study by Michelle Xiong, a medical student at Brown University, Providence, R.I., and Erin M. Warshaw, MD, of the department of dermatology at Park Nicollet/Health Partners Health Services, Minneapolis, which was published online in the Journal of the American Academy of Dermatology.

“There is increasing awareness of the negative effects of ultraviolet (UV) light in individuals with skin of color (SOC), especially in regards to pigmentation disorders induced and/or exacerbated by UV exposure,” the authors wrote. “As a result, there has been a surge in sunscreens marketed to this population. We aimed to characterize cost, marketing claims, and potential allergenic ingredients in sunscreens marketed to individuals with SOC.”

Between December 2021 and October 2022, the researchers used the following search terms on Google: “sunscreen” plus “skin of 36 color,” “dark skin,” “brown skin,” “LatinX skin,” and/or “Black skin.” They extracted price, marketing claims, and ingredients from manufacturers’ websites and used 90 allergens contained in the American Contact Dermatitis Society 2020 Core series to identify potential allergens. Next, they combined cross-reactors/synonyms into allergen categories based on ACDS Contact Allergen Management Plan (CAMP) cross-reactor classification. If multiple ingredients in a sunscreen were represented by a single allergen category, it was counted only once. A similar approach was utilized for marketing categories.

A total of 12 sunscreens were included in the analysis: Absolute Joi, Black Girl Sunscreen, Black Girl Sunscreen Make It Matte, Bolden SPF Brightening Moisturizer, Eleven on the Defense Unrivaled Sun Serum, Kinlo Golden Rays Sunscreen, Live Tinted Hueguard 3-in-1 Mineral Sunscreen, Mele Dew The Most Sheer Moisturizer SPF30 Broad Spectrum Sunscreen, Mele No Shade Sunscreen Oil, Specific Beauty Active Radiance Day Moi, Unsun Mineral Sunscreen, and Urban Skin Rx Complexion Protection. Their average cost was $19.30 per ounce (range, $6.33-$50.00) and common marketing claims for these products were “no white cast” (91.7%), being free of an ingredient (83.3%), and “moisturizing” (75%).

Of the 12 sunscreens, 7 (58.3%) contained a chemical sunscreen agent, 5 (41.7%) contained a physical UV blocker, and all contained at least one allergen. The average number of allergens per product was 4.7, most commonly fragrance/botanicals (83.3%), tocopherol (83.3%), sodium benzoates/derivatives (58.3%), and sorbitan sesquiolate/derivatives (58.3%).

“Average cost of sunscreens marketed to individuals with SOC was $19.30/oz, much higher than the median price of $3.32/oz reported in a separate study of 65 popular sunscreens,” the study authors wrote. “As many of the sunscreens in our study were sold by smaller businesses, higher prices may be due to higher production costs or a perceived smaller market.”

The authors expressed surprise that five sunscreens marketed to individuals with SOC contained a physical UV blocker which may create a white cast. They contacted the manufacturers of these five sunscreens and confirmed that three used micronized formulations. “While ingested/inhaled nanoparticles of titanium dioxide may cause tissue effects, most studies of topical products show excellent safety,” they wrote.

They also noted that the average of 4.7 allergens per product observed in the analysis was similar to the average of 4.9 seen in a separate study of 52 popular sunscreens. “However, that study only included 34 allergens while this study evaluated 90 allergens,” the authors wrote. “Consumers and providers should be aware sunscreens marketed to individuals with SOC may cause allergic contact dermatitis,” they commented.

“It is interesting to see how costly these products are now compared to store bought and general commercially available sunscreens several years ago,” said Lawrence J. Green, clinical professor of dermatology at George Washington University, Washington, who was asked to comment on the study. “However, to me that is not surprising as products marketed and targeted to specific populations are often priced at a premium. It wasn’t clear to me how many of these specialized online SOC sunscreens are tinted. I wish the authors had compared the cost of tinted sunscreens in general to nontinted sunscreens because tinted ones are more useful for SOC, because when rubbed in, they can readily match SOC and can also offer protection in the visible light spectrum.”

The authors reported having no financial disclosures; the study had no funding source. Dr. Green disclosed that he is a speaker, consultant, or investigator for many pharmaceutical companies.

Sunscreens marketed to individuals with skin of color are generally more expensive than products broadly marketed to consumers, and more than 40% contain a UV blocker that may create a white cast.

Ridofranz / iStock / Getty Images

Those are among the findings from a study by Michelle Xiong, a medical student at Brown University, Providence, R.I., and Erin M. Warshaw, MD, of the department of dermatology at Park Nicollet/Health Partners Health Services, Minneapolis, which was published online in the Journal of the American Academy of Dermatology.

“There is increasing awareness of the negative effects of ultraviolet (UV) light in individuals with skin of color (SOC), especially in regards to pigmentation disorders induced and/or exacerbated by UV exposure,” the authors wrote. “As a result, there has been a surge in sunscreens marketed to this population. We aimed to characterize cost, marketing claims, and potential allergenic ingredients in sunscreens marketed to individuals with SOC.”

Between December 2021 and October 2022, the researchers used the following search terms on Google: “sunscreen” plus “skin of 36 color,” “dark skin,” “brown skin,” “LatinX skin,” and/or “Black skin.” They extracted price, marketing claims, and ingredients from manufacturers’ websites and used 90 allergens contained in the American Contact Dermatitis Society 2020 Core series to identify potential allergens. Next, they combined cross-reactors/synonyms into allergen categories based on ACDS Contact Allergen Management Plan (CAMP) cross-reactor classification. If multiple ingredients in a sunscreen were represented by a single allergen category, it was counted only once. A similar approach was utilized for marketing categories.

A total of 12 sunscreens were included in the analysis: Absolute Joi, Black Girl Sunscreen, Black Girl Sunscreen Make It Matte, Bolden SPF Brightening Moisturizer, Eleven on the Defense Unrivaled Sun Serum, Kinlo Golden Rays Sunscreen, Live Tinted Hueguard 3-in-1 Mineral Sunscreen, Mele Dew The Most Sheer Moisturizer SPF30 Broad Spectrum Sunscreen, Mele No Shade Sunscreen Oil, Specific Beauty Active Radiance Day Moi, Unsun Mineral Sunscreen, and Urban Skin Rx Complexion Protection. Their average cost was $19.30 per ounce (range, $6.33-$50.00) and common marketing claims for these products were “no white cast” (91.7%), being free of an ingredient (83.3%), and “moisturizing” (75%).

Of the 12 sunscreens, 7 (58.3%) contained a chemical sunscreen agent, 5 (41.7%) contained a physical UV blocker, and all contained at least one allergen. The average number of allergens per product was 4.7, most commonly fragrance/botanicals (83.3%), tocopherol (83.3%), sodium benzoates/derivatives (58.3%), and sorbitan sesquiolate/derivatives (58.3%).

“Average cost of sunscreens marketed to individuals with SOC was $19.30/oz, much higher than the median price of $3.32/oz reported in a separate study of 65 popular sunscreens,” the study authors wrote. “As many of the sunscreens in our study were sold by smaller businesses, higher prices may be due to higher production costs or a perceived smaller market.”

The authors expressed surprise that five sunscreens marketed to individuals with SOC contained a physical UV blocker which may create a white cast. They contacted the manufacturers of these five sunscreens and confirmed that three used micronized formulations. “While ingested/inhaled nanoparticles of titanium dioxide may cause tissue effects, most studies of topical products show excellent safety,” they wrote.

They also noted that the average of 4.7 allergens per product observed in the analysis was similar to the average of 4.9 seen in a separate study of 52 popular sunscreens. “However, that study only included 34 allergens while this study evaluated 90 allergens,” the authors wrote. “Consumers and providers should be aware sunscreens marketed to individuals with SOC may cause allergic contact dermatitis,” they commented.

“It is interesting to see how costly these products are now compared to store bought and general commercially available sunscreens several years ago,” said Lawrence J. Green, clinical professor of dermatology at George Washington University, Washington, who was asked to comment on the study. “However, to me that is not surprising as products marketed and targeted to specific populations are often priced at a premium. It wasn’t clear to me how many of these specialized online SOC sunscreens are tinted. I wish the authors had compared the cost of tinted sunscreens in general to nontinted sunscreens because tinted ones are more useful for SOC, because when rubbed in, they can readily match SOC and can also offer protection in the visible light spectrum.”

The authors reported having no financial disclosures; the study had no funding source. Dr. Green disclosed that he is a speaker, consultant, or investigator for many pharmaceutical companies.

They’ve been around for a while and show no signs of going away: videos on TikTok of people, often teens, slathering their face with petroleum jelly and claiming that it’s transformed their skin, cured their acne, or given them an amazing “glow up.”

Towfiqu Barbhuiya / EyeEm / Getty Images

TikTok videos mentioning petrolatum increased by 46% and Instagram videos by 93% from 2021 to 2022, reported Gabriel Santos Malave, BA, of the Icahn School of Medicine at Mount Sinai, New York, and William D. James, MD, professor of dermatology, University of Pennsylvania, Philadelphia, in a review of petroleum jelly’s uses recently published in Cutis.

The authors said that Vaseline maker Unilever reports that mentions of the product increased by 327% on social media in 2022, primarily because of “slugging,” which involves smearing petroleum jelly on the face after application of a moisturizer.

In a typical demonstration, a dermatologist in the United Kingdom showed how she incorporates slugging into her routine in a TikTok video that’s had more than 1 million views.

Unlike many TikTok trends, slugging may not be entirely bad, say dermatologists.

“I think it’s a great way to keep your skin protected and moisturized, especially in those dry, cold winter months,” said dermatologist Mamina Turegano, MD, in a video posted in February 2022. That TikTok video has had more than 6 million views.

Dr. Turegano, who is in private practice in the New Orleans suburb of Metairie, La., told this news organization that she decided to post about slugging after she’d noticed that the topic was trending. Also, she had tried the technique herself when she was a resident in Washington more than a decade ago.

At the time, Dr. Turegano said that she was aware that “putting petroleum jelly on your face was not a normal thing.” But, given its history of being used in dermatology, she gave it a try and found that it worked well for her dry skin, she said.

Dr. Turegano is one among many dermatologists who have joined TikTok to dispel myths, educate, and inform. It’s important for them to be there “to engage and empower the public to become a better consumer of information out there and take ownership of their skin health,” said Jean McGee, MD, PhD, a dermatologist at Beth Israel Deaconess Medical Center, Boston, and assistant professor of dermatology at Harvard Medical School, also in Boston.

Dr. McGee and colleagues studied TikTok content on slugging and found that by far, videos that were created by health care providers were more educational. Dermatologists who posted were more likely to discuss the risks and benefits, whereas so-called “influencers” rarely posted on the risks, according to the study, published in Clinics in Dermatology.

Slugging is generally safe and effective for those who have a compromised skin barrier or “for those who have sensitive skin and can’t tolerate other products but need some form of moisturization,” said Dr. Turegano.

“Its oil-based nature allows it to seal water in the skin by creating a hydrophobic barrier that decreases transepidermal water loss (TEWL),” write Mr. Malave and Dr. James in Cutis. They note that petrolatum reduces TEWL by 98%, compared with only 20% to 30% for other oil-based moisturizers.

Dermatologists have often recommended a “seal and trap” regimen for dry skin or eczema. It involves a short, lukewarm shower, followed by immediately moisturizing with a petrolatum-based ointment, said Dr. McGee.

This could be safe for the face, but “other variables need to be considered,” including use of other topical medications and other skin care practices, she added.

The concept of double-layering a moisturizer and an occlusive agent can be beneficial but more typically for the hands and feet, where the skin can be severely dry and cracked, said Adam Friedman, MD, professor and chair of dermatology, George Washington University, Washington. “I would not recommend that on the face,” Dr. Friedman told this news organization.

He and other dermatologists warned about the potential for slugging – given petroleum jelly’s occlusive nature – to enhance the action of any topical steroid, retinol, or exfoliating agent.

Muneeb Shah, MD, who practices in Mooresville, N.C., is one of the most popular dermatologists on TikTok, with more than 17 million followers. He also warned in a February 2022 video about potential downsides. “Be careful after using retinol or exfoliating acids because it may actually irritate your skin more,” he says in the video.

“Slugging is awesome for some people but not for others, and not for every night,” said Whitney Bowe, MD, on a TikTok video she posted in July. She recommended it for eczema or really dry skin. Dr. Bowe, who practices with Advanced Dermatology in New York, advised those with acne-prone skin to “skip this trend.”

On a web page aimed at the general public, the American Academy of Dermatology similarly cautioned, “Avoid putting petroleum jelly on your face if you are acne-prone, as this may cause breakouts in some people.”
 

Acne cure or pore clogger?

And yet, plenty of TikTok users claim that it has improved their acne.

One such user posted a before and after video purporting to show that slugging had almost completely eliminated her acne and prior scarring. Not surprisingly, it has been viewed some 9 million times and got 1.5 million “likes.”

Dr. Friedman notes that it’s theoretically possible – but not likely – that acne could improve by slugging, given that acne basically is a disease of barrier disruption. “The idea here is you have disrupted skin barrier throughout the face regardless of whether you have a pimple in that spot or not, so you need to repair it,” he said. “That’s where I think slugging is somewhat on the right track, because by putting an occlusive agent on the skin, you are restoring the barrier element,” he said.

However, applying a thick, greasy ointment on the face could block pores and cause a backup of sebum and dead skin cells, and it could trap bacteria, he said. “Skin barrier protection and repair is central to acne management, but you need to do it in a safe way,” he said. He noted that that means applying an oil-free moisturizer to damp skin.

Dr. Turegano said she has seen slugging improve acne, but it’s hard to say which people with acne-prone skin would be the best candidates. Those who have used harsh products to treat acne and subsequently experienced worsening acne could potentially benefit, she said.

Even so, she said, “I’d be very cautious in anyone with acne.”

Dr. Friedman, Dr. McGee, and Dr. Turegano reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

They’ve been around for a while and show no signs of going away: videos on TikTok of people, often teens, slathering their face with petroleum jelly and claiming that it’s transformed their skin, cured their acne, or given them an amazing “glow up.”

Towfiqu Barbhuiya / EyeEm / Getty Images

TikTok videos mentioning petrolatum increased by 46% and Instagram videos by 93% from 2021 to 2022, reported Gabriel Santos Malave, BA, of the Icahn School of Medicine at Mount Sinai, New York, and William D. James, MD, professor of dermatology, University of Pennsylvania, Philadelphia, in a review of petroleum jelly’s uses recently published in Cutis.

The authors said that Vaseline maker Unilever reports that mentions of the product increased by 327% on social media in 2022, primarily because of “slugging,” which involves smearing petroleum jelly on the face after application of a moisturizer.

In a typical demonstration, a dermatologist in the United Kingdom showed how she incorporates slugging into her routine in a TikTok video that’s had more than 1 million views.

Unlike many TikTok trends, slugging may not be entirely bad, say dermatologists.

“I think it’s a great way to keep your skin protected and moisturized, especially in those dry, cold winter months,” said dermatologist Mamina Turegano, MD, in a video posted in February 2022. That TikTok video has had more than 6 million views.

Dr. Turegano, who is in private practice in the New Orleans suburb of Metairie, La., told this news organization that she decided to post about slugging after she’d noticed that the topic was trending. Also, she had tried the technique herself when she was a resident in Washington more than a decade ago.

At the time, Dr. Turegano said that she was aware that “putting petroleum jelly on your face was not a normal thing.” But, given its history of being used in dermatology, she gave it a try and found that it worked well for her dry skin, she said.

Dr. Turegano is one among many dermatologists who have joined TikTok to dispel myths, educate, and inform. It’s important for them to be there “to engage and empower the public to become a better consumer of information out there and take ownership of their skin health,” said Jean McGee, MD, PhD, a dermatologist at Beth Israel Deaconess Medical Center, Boston, and assistant professor of dermatology at Harvard Medical School, also in Boston.

Dr. McGee and colleagues studied TikTok content on slugging and found that by far, videos that were created by health care providers were more educational. Dermatologists who posted were more likely to discuss the risks and benefits, whereas so-called “influencers” rarely posted on the risks, according to the study, published in Clinics in Dermatology.

Slugging is generally safe and effective for those who have a compromised skin barrier or “for those who have sensitive skin and can’t tolerate other products but need some form of moisturization,” said Dr. Turegano.

“Its oil-based nature allows it to seal water in the skin by creating a hydrophobic barrier that decreases transepidermal water loss (TEWL),” write Mr. Malave and Dr. James in Cutis. They note that petrolatum reduces TEWL by 98%, compared with only 20% to 30% for other oil-based moisturizers.

Dermatologists have often recommended a “seal and trap” regimen for dry skin or eczema. It involves a short, lukewarm shower, followed by immediately moisturizing with a petrolatum-based ointment, said Dr. McGee.

This could be safe for the face, but “other variables need to be considered,” including use of other topical medications and other skin care practices, she added.

The concept of double-layering a moisturizer and an occlusive agent can be beneficial but more typically for the hands and feet, where the skin can be severely dry and cracked, said Adam Friedman, MD, professor and chair of dermatology, George Washington University, Washington. “I would not recommend that on the face,” Dr. Friedman told this news organization.

He and other dermatologists warned about the potential for slugging – given petroleum jelly’s occlusive nature – to enhance the action of any topical steroid, retinol, or exfoliating agent.

Muneeb Shah, MD, who practices in Mooresville, N.C., is one of the most popular dermatologists on TikTok, with more than 17 million followers. He also warned in a February 2022 video about potential downsides. “Be careful after using retinol or exfoliating acids because it may actually irritate your skin more,” he says in the video.

“Slugging is awesome for some people but not for others, and not for every night,” said Whitney Bowe, MD, on a TikTok video she posted in July. She recommended it for eczema or really dry skin. Dr. Bowe, who practices with Advanced Dermatology in New York, advised those with acne-prone skin to “skip this trend.”

On a web page aimed at the general public, the American Academy of Dermatology similarly cautioned, “Avoid putting petroleum jelly on your face if you are acne-prone, as this may cause breakouts in some people.”
 

Acne cure or pore clogger?

And yet, plenty of TikTok users claim that it has improved their acne.

One such user posted a before and after video purporting to show that slugging had almost completely eliminated her acne and prior scarring. Not surprisingly, it has been viewed some 9 million times and got 1.5 million “likes.”

Dr. Friedman notes that it’s theoretically possible – but not likely – that acne could improve by slugging, given that acne basically is a disease of barrier disruption. “The idea here is you have disrupted skin barrier throughout the face regardless of whether you have a pimple in that spot or not, so you need to repair it,” he said. “That’s where I think slugging is somewhat on the right track, because by putting an occlusive agent on the skin, you are restoring the barrier element,” he said.

However, applying a thick, greasy ointment on the face could block pores and cause a backup of sebum and dead skin cells, and it could trap bacteria, he said. “Skin barrier protection and repair is central to acne management, but you need to do it in a safe way,” he said. He noted that that means applying an oil-free moisturizer to damp skin.

Dr. Turegano said she has seen slugging improve acne, but it’s hard to say which people with acne-prone skin would be the best candidates. Those who have used harsh products to treat acne and subsequently experienced worsening acne could potentially benefit, she said.

Even so, she said, “I’d be very cautious in anyone with acne.”

Dr. Friedman, Dr. McGee, and Dr. Turegano reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

They’ve been around for a while and show no signs of going away: videos on TikTok of people, often teens, slathering their face with petroleum jelly and claiming that it’s transformed their skin, cured their acne, or given them an amazing “glow up.”

Towfiqu Barbhuiya / EyeEm / Getty Images

TikTok videos mentioning petrolatum increased by 46% and Instagram videos by 93% from 2021 to 2022, reported Gabriel Santos Malave, BA, of the Icahn School of Medicine at Mount Sinai, New York, and William D. James, MD, professor of dermatology, University of Pennsylvania, Philadelphia, in a review of petroleum jelly’s uses recently published in Cutis.

The authors said that Vaseline maker Unilever reports that mentions of the product increased by 327% on social media in 2022, primarily because of “slugging,” which involves smearing petroleum jelly on the face after application of a moisturizer.

In a typical demonstration, a dermatologist in the United Kingdom showed how she incorporates slugging into her routine in a TikTok video that’s had more than 1 million views.

Unlike many TikTok trends, slugging may not be entirely bad, say dermatologists.

“I think it’s a great way to keep your skin protected and moisturized, especially in those dry, cold winter months,” said dermatologist Mamina Turegano, MD, in a video posted in February 2022. That TikTok video has had more than 6 million views.

Dr. Turegano, who is in private practice in the New Orleans suburb of Metairie, La., told this news organization that she decided to post about slugging after she’d noticed that the topic was trending. Also, she had tried the technique herself when she was a resident in Washington more than a decade ago.

At the time, Dr. Turegano said that she was aware that “putting petroleum jelly on your face was not a normal thing.” But, given its history of being used in dermatology, she gave it a try and found that it worked well for her dry skin, she said.

Dr. Turegano is one among many dermatologists who have joined TikTok to dispel myths, educate, and inform. It’s important for them to be there “to engage and empower the public to become a better consumer of information out there and take ownership of their skin health,” said Jean McGee, MD, PhD, a dermatologist at Beth Israel Deaconess Medical Center, Boston, and assistant professor of dermatology at Harvard Medical School, also in Boston.

Dr. McGee and colleagues studied TikTok content on slugging and found that by far, videos that were created by health care providers were more educational. Dermatologists who posted were more likely to discuss the risks and benefits, whereas so-called “influencers” rarely posted on the risks, according to the study, published in Clinics in Dermatology.

Slugging is generally safe and effective for those who have a compromised skin barrier or “for those who have sensitive skin and can’t tolerate other products but need some form of moisturization,” said Dr. Turegano.

“Its oil-based nature allows it to seal water in the skin by creating a hydrophobic barrier that decreases transepidermal water loss (TEWL),” write Mr. Malave and Dr. James in Cutis. They note that petrolatum reduces TEWL by 98%, compared with only 20% to 30% for other oil-based moisturizers.

Dermatologists have often recommended a “seal and trap” regimen for dry skin or eczema. It involves a short, lukewarm shower, followed by immediately moisturizing with a petrolatum-based ointment, said Dr. McGee.

This could be safe for the face, but “other variables need to be considered,” including use of other topical medications and other skin care practices, she added.

The concept of double-layering a moisturizer and an occlusive agent can be beneficial but more typically for the hands and feet, where the skin can be severely dry and cracked, said Adam Friedman, MD, professor and chair of dermatology, George Washington University, Washington. “I would not recommend that on the face,” Dr. Friedman told this news organization.

He and other dermatologists warned about the potential for slugging – given petroleum jelly’s occlusive nature – to enhance the action of any topical steroid, retinol, or exfoliating agent.

Muneeb Shah, MD, who practices in Mooresville, N.C., is one of the most popular dermatologists on TikTok, with more than 17 million followers. He also warned in a February 2022 video about potential downsides. “Be careful after using retinol or exfoliating acids because it may actually irritate your skin more,” he says in the video.

“Slugging is awesome for some people but not for others, and not for every night,” said Whitney Bowe, MD, on a TikTok video she posted in July. She recommended it for eczema or really dry skin. Dr. Bowe, who practices with Advanced Dermatology in New York, advised those with acne-prone skin to “skip this trend.”

On a web page aimed at the general public, the American Academy of Dermatology similarly cautioned, “Avoid putting petroleum jelly on your face if you are acne-prone, as this may cause breakouts in some people.”
 

Acne cure or pore clogger?

And yet, plenty of TikTok users claim that it has improved their acne.

One such user posted a before and after video purporting to show that slugging had almost completely eliminated her acne and prior scarring. Not surprisingly, it has been viewed some 9 million times and got 1.5 million “likes.”

Dr. Friedman notes that it’s theoretically possible – but not likely – that acne could improve by slugging, given that acne basically is a disease of barrier disruption. “The idea here is you have disrupted skin barrier throughout the face regardless of whether you have a pimple in that spot or not, so you need to repair it,” he said. “That’s where I think slugging is somewhat on the right track, because by putting an occlusive agent on the skin, you are restoring the barrier element,” he said.

However, applying a thick, greasy ointment on the face could block pores and cause a backup of sebum and dead skin cells, and it could trap bacteria, he said. “Skin barrier protection and repair is central to acne management, but you need to do it in a safe way,” he said. He noted that that means applying an oil-free moisturizer to damp skin.

Dr. Turegano said she has seen slugging improve acne, but it’s hard to say which people with acne-prone skin would be the best candidates. Those who have used harsh products to treat acne and subsequently experienced worsening acne could potentially benefit, she said.

Even so, she said, “I’d be very cautious in anyone with acne.”

Dr. Friedman, Dr. McGee, and Dr. Turegano reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Measles has sickened 59 children in an outbreak that began in November and now spans four Ohio counties.

None of the children had been fully vaccinated against measles, and 23 of them have been hospitalized, local officials report.

“Measles can be very serious, especially for children under age 5,” Columbus Public Health spokesperson Kelli Newman told CNN.

Nearly all of the infected children are under age 5, with 12 of them being under 1 year old. 

“Many children are hospitalized for dehydration,” Ms. Newman told CNN in an email. “Other serious complications also can include pneumonia and neurological conditions such as encephalitis. There’s no way of knowing which children will become so sick they have to be hospitalized. The safest way to protect children from measles is to make sure they are vaccinated with MMR.”

Of the 59 infected children, 56 were unvaccinated and three had been partially vaccinated. The MMR (measles, mumps, and rubella) vaccine is recommended for children beginning at 12 months old, according to the Centers for Disease Control and American Academy of Pediatrics. Two doses are needed to be considered fully vaccinated, and the second dose is usually given between 4 and 6 years old.

Measles “is one of the most infectious agents known to man,” the academy says.

It is so contagious that if one person has it, up to 9 out of 10 people around that person will also become infected if they are not protected, the CDC explains. Measles infection causes a rash and a fever that can spike beyond 104° F. Sometimes, the illness can lead to brain swelling, brain damage, or death.

Last month, the World Health Organization and CDC warned that 40 million children worldwide missed their measles vaccinations in 2021, partly due to pandemic disruptions. The American Academy of Pediatrics also notes that many parents choose not to vaccinate their children due to misinformation.

Infants are at heightened risk because they are too young to be vaccinated.

The academy offered several tips for protecting unvaccinated infants during a measles outbreak:

• Limit your baby’s exposure to crowds, other children, and people with cold symptoms.
• Disinfect objects and surfaces at home regularly, because the measles virus can live on surfaces or suspended in the air for 2 hours.
• If possible, feed your baby breast milk, because it has antibodies to prevent and fight infections.

A version of this article first appeared on WebMD.com.

Measles has sickened 59 children in an outbreak that began in November and now spans four Ohio counties.

None of the children had been fully vaccinated against measles, and 23 of them have been hospitalized, local officials report.

“Measles can be very serious, especially for children under age 5,” Columbus Public Health spokesperson Kelli Newman told CNN.

Nearly all of the infected children are under age 5, with 12 of them being under 1 year old. 

“Many children are hospitalized for dehydration,” Ms. Newman told CNN in an email. “Other serious complications also can include pneumonia and neurological conditions such as encephalitis. There’s no way of knowing which children will become so sick they have to be hospitalized. The safest way to protect children from measles is to make sure they are vaccinated with MMR.”

Of the 59 infected children, 56 were unvaccinated and three had been partially vaccinated. The MMR (measles, mumps, and rubella) vaccine is recommended for children beginning at 12 months old, according to the Centers for Disease Control and American Academy of Pediatrics. Two doses are needed to be considered fully vaccinated, and the second dose is usually given between 4 and 6 years old.

Measles “is one of the most infectious agents known to man,” the academy says.

It is so contagious that if one person has it, up to 9 out of 10 people around that person will also become infected if they are not protected, the CDC explains. Measles infection causes a rash and a fever that can spike beyond 104° F. Sometimes, the illness can lead to brain swelling, brain damage, or death.

Last month, the World Health Organization and CDC warned that 40 million children worldwide missed their measles vaccinations in 2021, partly due to pandemic disruptions. The American Academy of Pediatrics also notes that many parents choose not to vaccinate their children due to misinformation.

Infants are at heightened risk because they are too young to be vaccinated.

The academy offered several tips for protecting unvaccinated infants during a measles outbreak:

• Limit your baby’s exposure to crowds, other children, and people with cold symptoms.
• Disinfect objects and surfaces at home regularly, because the measles virus can live on surfaces or suspended in the air for 2 hours.
• If possible, feed your baby breast milk, because it has antibodies to prevent and fight infections.

A version of this article first appeared on WebMD.com.

Measles has sickened 59 children in an outbreak that began in November and now spans four Ohio counties.

None of the children had been fully vaccinated against measles, and 23 of them have been hospitalized, local officials report.

“Measles can be very serious, especially for children under age 5,” Columbus Public Health spokesperson Kelli Newman told CNN.

Nearly all of the infected children are under age 5, with 12 of them being under 1 year old. 

“Many children are hospitalized for dehydration,” Ms. Newman told CNN in an email. “Other serious complications also can include pneumonia and neurological conditions such as encephalitis. There’s no way of knowing which children will become so sick they have to be hospitalized. The safest way to protect children from measles is to make sure they are vaccinated with MMR.”

Of the 59 infected children, 56 were unvaccinated and three had been partially vaccinated. The MMR (measles, mumps, and rubella) vaccine is recommended for children beginning at 12 months old, according to the Centers for Disease Control and American Academy of Pediatrics. Two doses are needed to be considered fully vaccinated, and the second dose is usually given between 4 and 6 years old.

Measles “is one of the most infectious agents known to man,” the academy says.

It is so contagious that if one person has it, up to 9 out of 10 people around that person will also become infected if they are not protected, the CDC explains. Measles infection causes a rash and a fever that can spike beyond 104° F. Sometimes, the illness can lead to brain swelling, brain damage, or death.

Last month, the World Health Organization and CDC warned that 40 million children worldwide missed their measles vaccinations in 2021, partly due to pandemic disruptions. The American Academy of Pediatrics also notes that many parents choose not to vaccinate their children due to misinformation.

Infants are at heightened risk because they are too young to be vaccinated.

The academy offered several tips for protecting unvaccinated infants during a measles outbreak:

• Limit your baby’s exposure to crowds, other children, and people with cold symptoms.
• Disinfect objects and surfaces at home regularly, because the measles virus can live on surfaces or suspended in the air for 2 hours.
• If possible, feed your baby breast milk, because it has antibodies to prevent and fight infections.

A version of this article first appeared on WebMD.com.

Scarlet fever, commonly described in young children and adolescents, is characterized by a papular, blanching rash that may be described as having a “sandpaper” texture. This condition typically presents in the setting of Streptococcus pyogenes pharyngitis, or strep throat, and is spread via mucosal transfer in close proximity such as classrooms and nurseries. The dermatologic symptoms are a result of the endotoxin produced by S. pyogenes, which is part of the group A Strep bacteria. Clinically, the presentation can be differentiated from an allergic eruption by its relation to acute pharyngitis, insidious onset, and lack of confluence of the lesions. Diagnosis is supported by a throat culture and rapid strep test, although a rapid test lacks reliability in older patients who are less commonly affected and likely to be carriers. First-line treatment is penicillin or amoxicillin, but first-generation cephalosporins, clindamycin, or erythromycin are sufficient if the patient is allergic to penicillins. Prognosis worsens as time between onset and treatment increases, but is overall excellent now with the introduction of antibiotics and improved hygiene.

Scarlet fever is among a list of many common childhood rashes, and it can be difficult to differentiate between these pathologies on clinical presentation. A few notable childhood dermatologic eruptions include erythema infectiosum (fifth disease), roseola (exanthema subitum or sixth disease), and measles. These cases can be distinguished clinically by the age of the patient, distribution, and quality of the symptoms. Laboratory testing may be used to confirm the diagnosis.

Erythema infectiosum is known as fifth disease or slapped-cheek rash because it commonly presents on the cheeks as a pink, maculopapular rash in a reticular pattern. The disease is caused by parvovirus B19 and is accompanied by low fever, malaise, headache, sore throat, and nausea, which precedes the erythematous rash. The facial rash appears first and is followed by patchy eruptions on the extremities. Appearance of the rash typically indicates the patient is no longer contagious, and patients are treated symptomatically with NSAIDs and antihistamines for associated pruritus.

Roseola infantum is commonly caused by human herpesvirus 6 and is usually found in children 3 years and younger. The defining symptom is a high fever, which is paired with a mild cough, runny nose, and diarrhea. A maculopapular rash appears after the fever subsides, starting centrally and spreading outward to the extremities. Although this rash is similar to measles, they can be differentiated by the order of onset. The rash caused by measles begins on the face and mouth (Koplik spots) and moves downward. Additionally, the patient appears generally healthy and the disease is self-limiting in roseola, while patients with measles will appear more ill and require further attention. Measles is caused by the measles virus of the genus Morbillivirus and is highly contagious. It is spread via respiratory route presenting with fever, cough, coryza, and conjunctivitis followed by the rash. Fortunately, the measles vaccine is in widespread use, so cases have declined over the years.

Our patient had a positive strep test. Influenza and coronavirus tests were negative. She was started on daily amoxicillin and the rash resolved within 2 days of taking the antibiotics.

This case and photo were submitted by Lucas Shapiro, BS, Nova Southeastern University, Tampa, and Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to [email protected].

References

Allmon A et al.. Am Fam Physician. 2015 Aug 1;92(3):211-6.

Moss WJ. Lancet. 2017 Dec 2;390(10111):2490-502.

Mullins TB and Krishnamurthy K. Roseola Infantum, in “StatPearls.” Treasure Islan, Fla.: StatPearls Publishing, 2022.

Pardo S and Perera TB. Scarlet Fever, in “StatPearls.” Treasure Island, Fla.: StatPearls Publishing, 2022.
 

Scarlet fever, commonly described in young children and adolescents, is characterized by a papular, blanching rash that may be described as having a “sandpaper” texture. This condition typically presents in the setting of Streptococcus pyogenes pharyngitis, or strep throat, and is spread via mucosal transfer in close proximity such as classrooms and nurseries. The dermatologic symptoms are a result of the endotoxin produced by S. pyogenes, which is part of the group A Strep bacteria. Clinically, the presentation can be differentiated from an allergic eruption by its relation to acute pharyngitis, insidious onset, and lack of confluence of the lesions. Diagnosis is supported by a throat culture and rapid strep test, although a rapid test lacks reliability in older patients who are less commonly affected and likely to be carriers. First-line treatment is penicillin or amoxicillin, but first-generation cephalosporins, clindamycin, or erythromycin are sufficient if the patient is allergic to penicillins. Prognosis worsens as time between onset and treatment increases, but is overall excellent now with the introduction of antibiotics and improved hygiene.

Scarlet fever is among a list of many common childhood rashes, and it can be difficult to differentiate between these pathologies on clinical presentation. A few notable childhood dermatologic eruptions include erythema infectiosum (fifth disease), roseola (exanthema subitum or sixth disease), and measles. These cases can be distinguished clinically by the age of the patient, distribution, and quality of the symptoms. Laboratory testing may be used to confirm the diagnosis.

Erythema infectiosum is known as fifth disease or slapped-cheek rash because it commonly presents on the cheeks as a pink, maculopapular rash in a reticular pattern. The disease is caused by parvovirus B19 and is accompanied by low fever, malaise, headache, sore throat, and nausea, which precedes the erythematous rash. The facial rash appears first and is followed by patchy eruptions on the extremities. Appearance of the rash typically indicates the patient is no longer contagious, and patients are treated symptomatically with NSAIDs and antihistamines for associated pruritus.

Roseola infantum is commonly caused by human herpesvirus 6 and is usually found in children 3 years and younger. The defining symptom is a high fever, which is paired with a mild cough, runny nose, and diarrhea. A maculopapular rash appears after the fever subsides, starting centrally and spreading outward to the extremities. Although this rash is similar to measles, they can be differentiated by the order of onset. The rash caused by measles begins on the face and mouth (Koplik spots) and moves downward. Additionally, the patient appears generally healthy and the disease is self-limiting in roseola, while patients with measles will appear more ill and require further attention. Measles is caused by the measles virus of the genus Morbillivirus and is highly contagious. It is spread via respiratory route presenting with fever, cough, coryza, and conjunctivitis followed by the rash. Fortunately, the measles vaccine is in widespread use, so cases have declined over the years.

Our patient had a positive strep test. Influenza and coronavirus tests were negative. She was started on daily amoxicillin and the rash resolved within 2 days of taking the antibiotics.

This case and photo were submitted by Lucas Shapiro, BS, Nova Southeastern University, Tampa, and Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to [email protected].

References

Allmon A et al.. Am Fam Physician. 2015 Aug 1;92(3):211-6.

Moss WJ. Lancet. 2017 Dec 2;390(10111):2490-502.

Mullins TB and Krishnamurthy K. Roseola Infantum, in “StatPearls.” Treasure Islan, Fla.: StatPearls Publishing, 2022.

Pardo S and Perera TB. Scarlet Fever, in “StatPearls.” Treasure Island, Fla.: StatPearls Publishing, 2022.
 

Scarlet fever, commonly described in young children and adolescents, is characterized by a papular, blanching rash that may be described as having a “sandpaper” texture. This condition typically presents in the setting of Streptococcus pyogenes pharyngitis, or strep throat, and is spread via mucosal transfer in close proximity such as classrooms and nurseries. The dermatologic symptoms are a result of the endotoxin produced by S. pyogenes, which is part of the group A Strep bacteria. Clinically, the presentation can be differentiated from an allergic eruption by its relation to acute pharyngitis, insidious onset, and lack of confluence of the lesions. Diagnosis is supported by a throat culture and rapid strep test, although a rapid test lacks reliability in older patients who are less commonly affected and likely to be carriers. First-line treatment is penicillin or amoxicillin, but first-generation cephalosporins, clindamycin, or erythromycin are sufficient if the patient is allergic to penicillins. Prognosis worsens as time between onset and treatment increases, but is overall excellent now with the introduction of antibiotics and improved hygiene.

Scarlet fever is among a list of many common childhood rashes, and it can be difficult to differentiate between these pathologies on clinical presentation. A few notable childhood dermatologic eruptions include erythema infectiosum (fifth disease), roseola (exanthema subitum or sixth disease), and measles. These cases can be distinguished clinically by the age of the patient, distribution, and quality of the symptoms. Laboratory testing may be used to confirm the diagnosis.

Erythema infectiosum is known as fifth disease or slapped-cheek rash because it commonly presents on the cheeks as a pink, maculopapular rash in a reticular pattern. The disease is caused by parvovirus B19 and is accompanied by low fever, malaise, headache, sore throat, and nausea, which precedes the erythematous rash. The facial rash appears first and is followed by patchy eruptions on the extremities. Appearance of the rash typically indicates the patient is no longer contagious, and patients are treated symptomatically with NSAIDs and antihistamines for associated pruritus.

Roseola infantum is commonly caused by human herpesvirus 6 and is usually found in children 3 years and younger. The defining symptom is a high fever, which is paired with a mild cough, runny nose, and diarrhea. A maculopapular rash appears after the fever subsides, starting centrally and spreading outward to the extremities. Although this rash is similar to measles, they can be differentiated by the order of onset. The rash caused by measles begins on the face and mouth (Koplik spots) and moves downward. Additionally, the patient appears generally healthy and the disease is self-limiting in roseola, while patients with measles will appear more ill and require further attention. Measles is caused by the measles virus of the genus Morbillivirus and is highly contagious. It is spread via respiratory route presenting with fever, cough, coryza, and conjunctivitis followed by the rash. Fortunately, the measles vaccine is in widespread use, so cases have declined over the years.

Our patient had a positive strep test. Influenza and coronavirus tests were negative. She was started on daily amoxicillin and the rash resolved within 2 days of taking the antibiotics.

This case and photo were submitted by Lucas Shapiro, BS, Nova Southeastern University, Tampa, and Dr. Bilu Martin.

Dr. Bilu Martin is a board-certified dermatologist in private practice at Premier Dermatology, MD, in Aventura, Fla. More diagnostic cases are available at mdedge.com/dermatology. To submit a case for possible publication, send an email to [email protected].

References

Allmon A et al.. Am Fam Physician. 2015 Aug 1;92(3):211-6.

Moss WJ. Lancet. 2017 Dec 2;390(10111):2490-502.

Mullins TB and Krishnamurthy K. Roseola Infantum, in “StatPearls.” Treasure Islan, Fla.: StatPearls Publishing, 2022.

Pardo S and Perera TB. Scarlet Fever, in “StatPearls.” Treasure Island, Fla.: StatPearls Publishing, 2022.
 

Tooth decay can be easy to overlook – particularly for pediatricians and family physicians, who may be neglecting a crucial aspect of childhood health.

Left untreated, it can lead to serious and even fatal medical problems. The incorporation of preventive oral health care services like the application of fluoride varnish into primary care may be helping protect kids’ smiles and improving their overall physical well-being, according to doctors and a recent government report.
 

‘We don’t deal with that in pediatrics’

Physicians historically were not trained to examine teeth. That was the dentist’s job.

But dental caries is one of the most common chronic diseases in children, and many children do not regularly see a dentist.

“I stumbled across the statistic that oral health problems in children are five times as common as asthma,” said Susan A. Fisher-Owens, MD, MPH, professor of pediatrics at the University of California, San Francisco. “And I said to myself, ‘Well, that can’t be. We don’t deal with that in pediatrics.’ And then I realized, ‘Oh my goodness, we don’t deal with that in pediatrics!’ ”

Children should see a dentist, of course. Physicians should refer families to a dentist by age 1 for routine care, Dr. Fisher-Owens said. The sooner kids are seen, the more likely they are to stay healthy and avoid the need for costlier care, she said.

But the receipt of dental care has gaps.

“About half of all American children do not receive regular dental care because of social, economic, and geographic obstacles,” according to a 2021 fact sheet from the National Institute of Dental and Craniofacial Research. “Integrating dental care within family and pediatric medical care settings is improving children’s oral health.”

Many children do not start to see a dentist when they are supposed to, acknowledged Kami Hoss, DDS, MS, founder of a large dental practice in California and the author of a new book, “If Your Mouth Could Talk,” that examines links between oral health and physical disease.

Although the American Academy of Pediatric Dentistry says every child should see a pediatric dentist by the time their first baby teeth come in, usually at around 6 months or no later than age 1 year, that does not always happen.

Indeed, only about 16% of children adhere to that guidance, Dr. Hoss said, “which means 84% of parents rely on their pediatricians for oral health advice.”

At older ages, oral health problems like gum disease are linked to almost every chronic disease, Dr. Hoss said.

“We love to bridge the gap, to build bridges between medicine and dentistry,” he said. “After all, your mouth is part of your body.”

A 2021 NIDCR report similarly describes the stakes: “Although caries is largely preventable, if untreated it can lead to pain, inflammation, and the spread of infection to bone and soft tissue. Children may suffer from difficulty eating, poor nutrition, delayed physical development, and poor self-image and socialization. Even academic performance can be affected.”

In November, the World Health Organization published a report showing that about 45% of the world’s population – 3.5 billion people – have oral diseases, including 2.5 billion people with untreated dental caries.

Oral health care is often neglected in public health research, and often entails high out-of-pocket costs for families, the organization notes.
 

‘Strep tooth’

Dental cavities are caused by bacteria – mainly Streptococcus mutans – that eat sugars or carbohydrates in the mouth. That process causes acid, which can erode teeth. In that way, the development of caries is a fully preventable infectious disease process, Dr. Fisher-Owens said.

“I think if people looked at this disease as ‘strep tooth,’ it would get a lot more people interested,” she said.

Bacteria that cause caries can spread from caregiver to child, such as when a parent tries to clean a dropped pacifier in their own mouth, or from child to child.

Caries can be prevented with proper diet and oral hygiene: toothbrushing and then applying fluoride to strengthen teeth or restrengthen teeth that have been weakened by the disease process, Dr. Fisher-Owens said.

The biggest risk factor for having cavities in adult teeth is having them in primary teeth, she said. “There is a common misconception that it doesn’t matter what happens with baby teeth. They’ll fall out,” she said. “But actually it does because it puts you on a trajectory of having cavities in the adult teeth and worse outcomes with other adult conditions, such as diabetes.”

At the 2022 annual meeting of the American Academy of Pediatrics in Anaheim in October, Dr. Fisher-Owens and Jean Calvo, DDS, MPH, also with the University of California, San Francisco, trained colleagues to apply fluoride varnish to primary teeth – so-called baby teeth – in the doctor’s office. This session is a regular feature at these conferences.

Since 2014, the U.S. Preventive Services Task Force has recommended that primary care clinicians apply fluoride varnish to the primary teeth of all infants and children.

Many pediatricians may not do this regularly, however.

Researchers recently reported that, despite insurance coverage, less than 5% of well-child visits for privately insured young children between 2016 and 2018 included the service.

Nevertheless, the practice may be helping, according to the NIDCR report.

Since 2000, untreated tooth decay in primary teeth among children younger than 12 years has fallen from 23% to 15%, according to the report. For children aged 2-5 years, untreated tooth decay decreased from at least 19% to 10%. For children aged 6-11 years, the prevalence of dental cavities in permanent teeth fell from 25% to 18%, the report states.

“Fluoridated water, toothpastes, and varnish – as well as dental sealants – can work together to dramatically reduce the incidence of caries,” according to the NIDCR. “Integrating dental care within family and pediatric medical care settings has been another important advancement. The delivery of preventive oral health services, such as fluoride varnish, during well-child visits in medical offices is showing promise in reducing dental caries among preschool-age children.”

Integrating oral health care with medical primary care has met challenges, however, including “resistance by providers, lack of training, and the need for insurance reimbursement for services,” the report notes.

Clinicians can already bill for the application of fluoride varnish using Current Procedural Terminology (CPT) code 99188, and additional oral health care procedures may be on the horizon.

The American Medical Association this fall established a new Category III CPT code for the application of silver diamine fluoride to dental cavities.

Silver diamine fluoride is a newer product that was approved as a desensitizing agent by the Food and Drug Administration in 2014. It has antimicrobial and remineralizing properties, and researchers have found that it can stop the progression of early tooth decay and is more effective than fluoride varnish in preventing cavities.

Several dental groups supported the creation of this new code, which is expected to be made available by electronic health records vendors in July.

Some dentists have reservations, however. The Academy of General Dentistry in October expressed concerns that allowing “nondental health care workers to administer silver diamine fluoride is a temporary solution to a growing oral health crisis.”

Silver diamine fluoride may stop about 80% of cavities. Although the CPT code for silver diamine fluoride has been established, whether insurers will reimburse health care professionals for the service is another matter, said Richard Niederman, DMD, professor and chair of epidemiology and health promotion at New York University College of Dentistry.
 

Fatal consequences

Disparities in oral health in children may be greater than with almost any other disease process. The rate of caries in children who are poor is about twice that for children who are not poor, Dr. Fisher-Owens said. Disparities by race or ethnicity compound these differences.

In 2007, 12-year-old Deamonte Driver died after bacteria from a dental abscess spread to his brain. He had needed a tooth extraction, but his family lacked insurance and had had trouble finding dentists that accepted Medicaid near where they lived in Maryland.

After two emergency brain surgeries, 2 weeks in a hospital, and another 6 weeks in a hospital for rehabilitation, Deamonte died from the infection. The case sparked calls to fix the dental health system.

Physicians may notice more oral health problems in their patients, including dental abscesses, once they start looking for them, Dr. Fisher-Owens said.

She recalled one instance where a child with an underlying seizure disorder was hospitalized at an academic center because they appeared to be having more seizures.

“They eventually discharged the kid because they looked at all of the things related to seizures. None of them were there,” she said.

When Dr. Fisher-Owens saw the child for a discharge exam, she looked in the mouth and saw a whopping dental abscess.

“I realized that this kid wasn’t seizing but was actually rigoring in pain,” she said. No one else on the medical team had seen the true problem despite multiple examinations. The child started antibiotics, was referred to a dentist to have the abscess drained, and had a good outcome.

Suzanne C. Boulter, MD, adjunct clinical professor of pediatrics and community health at the Geisel School of Medicine at Dartmouth, Hanover, N.H., had noticed that many of her poorer patients had oral health problems, but many pediatric dentists were not able or willing to see them to provide treatment.

“Taking it one step further, you really want to prevent early childhood caries,” Dr. Boulter said. She started speaking up about oral health at pediatric meetings and became an early adopter of preventive interventions, including the use of fluoride varnish.

“Fluoride varnish is a sticky substance that has a very high concentration of fluoride in it,and it’s a very powerful reducer of oral childhood caries, by maybe 35%,” Dr. Boulter said.

Applying the varnish is fairly simple, but it had never been part of the well-child exam. Dr. Boulter started using it around 2005.

Initially, convincing other pediatricians to adopt this procedure – when visits are already time-constrained – was not always easy, she said.

Now that fluoride varnish is recommended for all children and is part of Bright Futures recommendations and is covered in the Affordable Care Act, “it became more the norm,” Dr. Boulter said. But there is room for improvement.

“There is still not a high enough percentage of pediatricians and family physicians who actually have incorporated application of fluoride varnish into their practice,” she said.
 

Brush, book, bed

Clinicians can take other steps to counsel parents about protecting their child’s teeth, like making sure that their teeth get brushed before bed, encouraging kids to drink tap water, especially if it’s fluoridated, and avoiding juice. The AAP has a program called Brush, Book, Bed to promote oral health, along with reading and good sleep habits.

Dr. Hoss noted that parents, and even dentists, may have misconceptions about optimal oral hygiene. “For example, you’re supposed to brush your teeth before breakfast, not after breakfast. But I’ve seen dentists even tell their patients, brush after breakfast,” he said.

In addition, people should brush gently but thoroughly using high-quality toothbrushes with soft bristles – “not scrubbing the teeth away with a coarse toothbrush,” he said.

Dr. Niederman has studied ways to prevent caries in underserved communities and is co-CEO of CariedAway, an organization that brings free cavity-prevention programs to schools.

In an average classroom of 24 students, about 6 children would be expected to have untreated tooth decay, Dr. Niederman said. And about 10% of the children with untreated tooth decay experience a toothache. So in two classrooms, at least one child would be expected to be experiencing pain, while the other students with caries might feel a lesser degree of discomfort. “That reduces presenteeism in the classroom and certainly presenteeism for the kid with a toothache,” Dr. Niederman said.

In communities with less access to dental care, including rural areas, the number of students with tooth decay might be double.

The new WHO report shows that the prevalence of caries in permanent teeth in various countries has remained at roughly 30%, regardless of a country’s income level, and despite efforts to bolster the dental workforce, said Dr. Niederman.

“The dental system is similar globally and focused on drilling and filling rather than prevention,” he said.

A 2019 Lancet series on oral health called for radical change in dental care, Dr. Niederman noted. “One of those radical changes would be primary care physicians or their offices participating in outreach programs to deliver care in schools,” he said.

Dr. Fisher-Owens is on a data and safety monitoring board for research by Colgate. Dr. Boulter serves on the editorial advisory board of Pediatric News. Dr. Hoss is the author of “If Your Mouth Could Talk” and the founder and CEO of SuperMouth, which markets children’s oral care products. Dr. Niederman’s research has used toothbrushes, toothpaste, and fluoride varnish donated by Colgate; silver diamine fluoride provided by Elevate Oral Health; and glass ionomer provided by GC America.

Tooth decay can be easy to overlook – particularly for pediatricians and family physicians, who may be neglecting a crucial aspect of childhood health.

Left untreated, it can lead to serious and even fatal medical problems. The incorporation of preventive oral health care services like the application of fluoride varnish into primary care may be helping protect kids’ smiles and improving their overall physical well-being, according to doctors and a recent government report.
 

‘We don’t deal with that in pediatrics’

Physicians historically were not trained to examine teeth. That was the dentist’s job.

But dental caries is one of the most common chronic diseases in children, and many children do not regularly see a dentist.

“I stumbled across the statistic that oral health problems in children are five times as common as asthma,” said Susan A. Fisher-Owens, MD, MPH, professor of pediatrics at the University of California, San Francisco. “And I said to myself, ‘Well, that can’t be. We don’t deal with that in pediatrics.’ And then I realized, ‘Oh my goodness, we don’t deal with that in pediatrics!’ ”

Children should see a dentist, of course. Physicians should refer families to a dentist by age 1 for routine care, Dr. Fisher-Owens said. The sooner kids are seen, the more likely they are to stay healthy and avoid the need for costlier care, she said.

But the receipt of dental care has gaps.

“About half of all American children do not receive regular dental care because of social, economic, and geographic obstacles,” according to a 2021 fact sheet from the National Institute of Dental and Craniofacial Research. “Integrating dental care within family and pediatric medical care settings is improving children’s oral health.”

Many children do not start to see a dentist when they are supposed to, acknowledged Kami Hoss, DDS, MS, founder of a large dental practice in California and the author of a new book, “If Your Mouth Could Talk,” that examines links between oral health and physical disease.

Although the American Academy of Pediatric Dentistry says every child should see a pediatric dentist by the time their first baby teeth come in, usually at around 6 months or no later than age 1 year, that does not always happen.

Indeed, only about 16% of children adhere to that guidance, Dr. Hoss said, “which means 84% of parents rely on their pediatricians for oral health advice.”

At older ages, oral health problems like gum disease are linked to almost every chronic disease, Dr. Hoss said.

“We love to bridge the gap, to build bridges between medicine and dentistry,” he said. “After all, your mouth is part of your body.”

A 2021 NIDCR report similarly describes the stakes: “Although caries is largely preventable, if untreated it can lead to pain, inflammation, and the spread of infection to bone and soft tissue. Children may suffer from difficulty eating, poor nutrition, delayed physical development, and poor self-image and socialization. Even academic performance can be affected.”

In November, the World Health Organization published a report showing that about 45% of the world’s population – 3.5 billion people – have oral diseases, including 2.5 billion people with untreated dental caries.

Oral health care is often neglected in public health research, and often entails high out-of-pocket costs for families, the organization notes.
 

‘Strep tooth’

Dental cavities are caused by bacteria – mainly Streptococcus mutans – that eat sugars or carbohydrates in the mouth. That process causes acid, which can erode teeth. In that way, the development of caries is a fully preventable infectious disease process, Dr. Fisher-Owens said.

“I think if people looked at this disease as ‘strep tooth,’ it would get a lot more people interested,” she said.

Bacteria that cause caries can spread from caregiver to child, such as when a parent tries to clean a dropped pacifier in their own mouth, or from child to child.

Caries can be prevented with proper diet and oral hygiene: toothbrushing and then applying fluoride to strengthen teeth or restrengthen teeth that have been weakened by the disease process, Dr. Fisher-Owens said.

The biggest risk factor for having cavities in adult teeth is having them in primary teeth, she said. “There is a common misconception that it doesn’t matter what happens with baby teeth. They’ll fall out,” she said. “But actually it does because it puts you on a trajectory of having cavities in the adult teeth and worse outcomes with other adult conditions, such as diabetes.”

At the 2022 annual meeting of the American Academy of Pediatrics in Anaheim in October, Dr. Fisher-Owens and Jean Calvo, DDS, MPH, also with the University of California, San Francisco, trained colleagues to apply fluoride varnish to primary teeth – so-called baby teeth – in the doctor’s office. This session is a regular feature at these conferences.

Since 2014, the U.S. Preventive Services Task Force has recommended that primary care clinicians apply fluoride varnish to the primary teeth of all infants and children.

Many pediatricians may not do this regularly, however.

Researchers recently reported that, despite insurance coverage, less than 5% of well-child visits for privately insured young children between 2016 and 2018 included the service.

Nevertheless, the practice may be helping, according to the NIDCR report.

Since 2000, untreated tooth decay in primary teeth among children younger than 12 years has fallen from 23% to 15%, according to the report. For children aged 2-5 years, untreated tooth decay decreased from at least 19% to 10%. For children aged 6-11 years, the prevalence of dental cavities in permanent teeth fell from 25% to 18%, the report states.

“Fluoridated water, toothpastes, and varnish – as well as dental sealants – can work together to dramatically reduce the incidence of caries,” according to the NIDCR. “Integrating dental care within family and pediatric medical care settings has been another important advancement. The delivery of preventive oral health services, such as fluoride varnish, during well-child visits in medical offices is showing promise in reducing dental caries among preschool-age children.”

Integrating oral health care with medical primary care has met challenges, however, including “resistance by providers, lack of training, and the need for insurance reimbursement for services,” the report notes.

Clinicians can already bill for the application of fluoride varnish using Current Procedural Terminology (CPT) code 99188, and additional oral health care procedures may be on the horizon.

The American Medical Association this fall established a new Category III CPT code for the application of silver diamine fluoride to dental cavities.

Silver diamine fluoride is a newer product that was approved as a desensitizing agent by the Food and Drug Administration in 2014. It has antimicrobial and remineralizing properties, and researchers have found that it can stop the progression of early tooth decay and is more effective than fluoride varnish in preventing cavities.

Several dental groups supported the creation of this new code, which is expected to be made available by electronic health records vendors in July.

Some dentists have reservations, however. The Academy of General Dentistry in October expressed concerns that allowing “nondental health care workers to administer silver diamine fluoride is a temporary solution to a growing oral health crisis.”

Silver diamine fluoride may stop about 80% of cavities. Although the CPT code for silver diamine fluoride has been established, whether insurers will reimburse health care professionals for the service is another matter, said Richard Niederman, DMD, professor and chair of epidemiology and health promotion at New York University College of Dentistry.
 

Fatal consequences

Disparities in oral health in children may be greater than with almost any other disease process. The rate of caries in children who are poor is about twice that for children who are not poor, Dr. Fisher-Owens said. Disparities by race or ethnicity compound these differences.

In 2007, 12-year-old Deamonte Driver died after bacteria from a dental abscess spread to his brain. He had needed a tooth extraction, but his family lacked insurance and had had trouble finding dentists that accepted Medicaid near where they lived in Maryland.

After two emergency brain surgeries, 2 weeks in a hospital, and another 6 weeks in a hospital for rehabilitation, Deamonte died from the infection. The case sparked calls to fix the dental health system.

Physicians may notice more oral health problems in their patients, including dental abscesses, once they start looking for them, Dr. Fisher-Owens said.

She recalled one instance where a child with an underlying seizure disorder was hospitalized at an academic center because they appeared to be having more seizures.

“They eventually discharged the kid because they looked at all of the things related to seizures. None of them were there,” she said.

When Dr. Fisher-Owens saw the child for a discharge exam, she looked in the mouth and saw a whopping dental abscess.

“I realized that this kid wasn’t seizing but was actually rigoring in pain,” she said. No one else on the medical team had seen the true problem despite multiple examinations. The child started antibiotics, was referred to a dentist to have the abscess drained, and had a good outcome.

Suzanne C. Boulter, MD, adjunct clinical professor of pediatrics and community health at the Geisel School of Medicine at Dartmouth, Hanover, N.H., had noticed that many of her poorer patients had oral health problems, but many pediatric dentists were not able or willing to see them to provide treatment.

“Taking it one step further, you really want to prevent early childhood caries,” Dr. Boulter said. She started speaking up about oral health at pediatric meetings and became an early adopter of preventive interventions, including the use of fluoride varnish.

“Fluoride varnish is a sticky substance that has a very high concentration of fluoride in it,and it’s a very powerful reducer of oral childhood caries, by maybe 35%,” Dr. Boulter said.

Applying the varnish is fairly simple, but it had never been part of the well-child exam. Dr. Boulter started using it around 2005.

Initially, convincing other pediatricians to adopt this procedure – when visits are already time-constrained – was not always easy, she said.

Now that fluoride varnish is recommended for all children and is part of Bright Futures recommendations and is covered in the Affordable Care Act, “it became more the norm,” Dr. Boulter said. But there is room for improvement.

“There is still not a high enough percentage of pediatricians and family physicians who actually have incorporated application of fluoride varnish into their practice,” she said.
 

Brush, book, bed

Clinicians can take other steps to counsel parents about protecting their child’s teeth, like making sure that their teeth get brushed before bed, encouraging kids to drink tap water, especially if it’s fluoridated, and avoiding juice. The AAP has a program called Brush, Book, Bed to promote oral health, along with reading and good sleep habits.

Dr. Hoss noted that parents, and even dentists, may have misconceptions about optimal oral hygiene. “For example, you’re supposed to brush your teeth before breakfast, not after breakfast. But I’ve seen dentists even tell their patients, brush after breakfast,” he said.

In addition, people should brush gently but thoroughly using high-quality toothbrushes with soft bristles – “not scrubbing the teeth away with a coarse toothbrush,” he said.

Dr. Niederman has studied ways to prevent caries in underserved communities and is co-CEO of CariedAway, an organization that brings free cavity-prevention programs to schools.

In an average classroom of 24 students, about 6 children would be expected to have untreated tooth decay, Dr. Niederman said. And about 10% of the children with untreated tooth decay experience a toothache. So in two classrooms, at least one child would be expected to be experiencing pain, while the other students with caries might feel a lesser degree of discomfort. “That reduces presenteeism in the classroom and certainly presenteeism for the kid with a toothache,” Dr. Niederman said.

In communities with less access to dental care, including rural areas, the number of students with tooth decay might be double.

The new WHO report shows that the prevalence of caries in permanent teeth in various countries has remained at roughly 30%, regardless of a country’s income level, and despite efforts to bolster the dental workforce, said Dr. Niederman.

“The dental system is similar globally and focused on drilling and filling rather than prevention,” he said.

A 2019 Lancet series on oral health called for radical change in dental care, Dr. Niederman noted. “One of those radical changes would be primary care physicians or their offices participating in outreach programs to deliver care in schools,” he said.

Dr. Fisher-Owens is on a data and safety monitoring board for research by Colgate. Dr. Boulter serves on the editorial advisory board of Pediatric News. Dr. Hoss is the author of “If Your Mouth Could Talk” and the founder and CEO of SuperMouth, which markets children’s oral care products. Dr. Niederman’s research has used toothbrushes, toothpaste, and fluoride varnish donated by Colgate; silver diamine fluoride provided by Elevate Oral Health; and glass ionomer provided by GC America.

Tooth decay can be easy to overlook – particularly for pediatricians and family physicians, who may be neglecting a crucial aspect of childhood health.

Left untreated, it can lead to serious and even fatal medical problems. The incorporation of preventive oral health care services like the application of fluoride varnish into primary care may be helping protect kids’ smiles and improving their overall physical well-being, according to doctors and a recent government report.
 

‘We don’t deal with that in pediatrics’

Physicians historically were not trained to examine teeth. That was the dentist’s job.

But dental caries is one of the most common chronic diseases in children, and many children do not regularly see a dentist.

“I stumbled across the statistic that oral health problems in children are five times as common as asthma,” said Susan A. Fisher-Owens, MD, MPH, professor of pediatrics at the University of California, San Francisco. “And I said to myself, ‘Well, that can’t be. We don’t deal with that in pediatrics.’ And then I realized, ‘Oh my goodness, we don’t deal with that in pediatrics!’ ”

Children should see a dentist, of course. Physicians should refer families to a dentist by age 1 for routine care, Dr. Fisher-Owens said. The sooner kids are seen, the more likely they are to stay healthy and avoid the need for costlier care, she said.

But the receipt of dental care has gaps.

“About half of all American children do not receive regular dental care because of social, economic, and geographic obstacles,” according to a 2021 fact sheet from the National Institute of Dental and Craniofacial Research. “Integrating dental care within family and pediatric medical care settings is improving children’s oral health.”

Many children do not start to see a dentist when they are supposed to, acknowledged Kami Hoss, DDS, MS, founder of a large dental practice in California and the author of a new book, “If Your Mouth Could Talk,” that examines links between oral health and physical disease.

Although the American Academy of Pediatric Dentistry says every child should see a pediatric dentist by the time their first baby teeth come in, usually at around 6 months or no later than age 1 year, that does not always happen.

Indeed, only about 16% of children adhere to that guidance, Dr. Hoss said, “which means 84% of parents rely on their pediatricians for oral health advice.”

At older ages, oral health problems like gum disease are linked to almost every chronic disease, Dr. Hoss said.

“We love to bridge the gap, to build bridges between medicine and dentistry,” he said. “After all, your mouth is part of your body.”

A 2021 NIDCR report similarly describes the stakes: “Although caries is largely preventable, if untreated it can lead to pain, inflammation, and the spread of infection to bone and soft tissue. Children may suffer from difficulty eating, poor nutrition, delayed physical development, and poor self-image and socialization. Even academic performance can be affected.”

In November, the World Health Organization published a report showing that about 45% of the world’s population – 3.5 billion people – have oral diseases, including 2.5 billion people with untreated dental caries.

Oral health care is often neglected in public health research, and often entails high out-of-pocket costs for families, the organization notes.
 

‘Strep tooth’

Dental cavities are caused by bacteria – mainly Streptococcus mutans – that eat sugars or carbohydrates in the mouth. That process causes acid, which can erode teeth. In that way, the development of caries is a fully preventable infectious disease process, Dr. Fisher-Owens said.

“I think if people looked at this disease as ‘strep tooth,’ it would get a lot more people interested,” she said.

Bacteria that cause caries can spread from caregiver to child, such as when a parent tries to clean a dropped pacifier in their own mouth, or from child to child.

Caries can be prevented with proper diet and oral hygiene: toothbrushing and then applying fluoride to strengthen teeth or restrengthen teeth that have been weakened by the disease process, Dr. Fisher-Owens said.

The biggest risk factor for having cavities in adult teeth is having them in primary teeth, she said. “There is a common misconception that it doesn’t matter what happens with baby teeth. They’ll fall out,” she said. “But actually it does because it puts you on a trajectory of having cavities in the adult teeth and worse outcomes with other adult conditions, such as diabetes.”

At the 2022 annual meeting of the American Academy of Pediatrics in Anaheim in October, Dr. Fisher-Owens and Jean Calvo, DDS, MPH, also with the University of California, San Francisco, trained colleagues to apply fluoride varnish to primary teeth – so-called baby teeth – in the doctor’s office. This session is a regular feature at these conferences.

Since 2014, the U.S. Preventive Services Task Force has recommended that primary care clinicians apply fluoride varnish to the primary teeth of all infants and children.

Many pediatricians may not do this regularly, however.

Researchers recently reported that, despite insurance coverage, less than 5% of well-child visits for privately insured young children between 2016 and 2018 included the service.

Nevertheless, the practice may be helping, according to the NIDCR report.

Since 2000, untreated tooth decay in primary teeth among children younger than 12 years has fallen from 23% to 15%, according to the report. For children aged 2-5 years, untreated tooth decay decreased from at least 19% to 10%. For children aged 6-11 years, the prevalence of dental cavities in permanent teeth fell from 25% to 18%, the report states.

“Fluoridated water, toothpastes, and varnish – as well as dental sealants – can work together to dramatically reduce the incidence of caries,” according to the NIDCR. “Integrating dental care within family and pediatric medical care settings has been another important advancement. The delivery of preventive oral health services, such as fluoride varnish, during well-child visits in medical offices is showing promise in reducing dental caries among preschool-age children.”

Integrating oral health care with medical primary care has met challenges, however, including “resistance by providers, lack of training, and the need for insurance reimbursement for services,” the report notes.

Clinicians can already bill for the application of fluoride varnish using Current Procedural Terminology (CPT) code 99188, and additional oral health care procedures may be on the horizon.

The American Medical Association this fall established a new Category III CPT code for the application of silver diamine fluoride to dental cavities.

Silver diamine fluoride is a newer product that was approved as a desensitizing agent by the Food and Drug Administration in 2014. It has antimicrobial and remineralizing properties, and researchers have found that it can stop the progression of early tooth decay and is more effective than fluoride varnish in preventing cavities.

Several dental groups supported the creation of this new code, which is expected to be made available by electronic health records vendors in July.

Some dentists have reservations, however. The Academy of General Dentistry in October expressed concerns that allowing “nondental health care workers to administer silver diamine fluoride is a temporary solution to a growing oral health crisis.”

Silver diamine fluoride may stop about 80% of cavities. Although the CPT code for silver diamine fluoride has been established, whether insurers will reimburse health care professionals for the service is another matter, said Richard Niederman, DMD, professor and chair of epidemiology and health promotion at New York University College of Dentistry.
 

Fatal consequences

Disparities in oral health in children may be greater than with almost any other disease process. The rate of caries in children who are poor is about twice that for children who are not poor, Dr. Fisher-Owens said. Disparities by race or ethnicity compound these differences.

In 2007, 12-year-old Deamonte Driver died after bacteria from a dental abscess spread to his brain. He had needed a tooth extraction, but his family lacked insurance and had had trouble finding dentists that accepted Medicaid near where they lived in Maryland.

After two emergency brain surgeries, 2 weeks in a hospital, and another 6 weeks in a hospital for rehabilitation, Deamonte died from the infection. The case sparked calls to fix the dental health system.

Physicians may notice more oral health problems in their patients, including dental abscesses, once they start looking for them, Dr. Fisher-Owens said.

She recalled one instance where a child with an underlying seizure disorder was hospitalized at an academic center because they appeared to be having more seizures.

“They eventually discharged the kid because they looked at all of the things related to seizures. None of them were there,” she said.

When Dr. Fisher-Owens saw the child for a discharge exam, she looked in the mouth and saw a whopping dental abscess.

“I realized that this kid wasn’t seizing but was actually rigoring in pain,” she said. No one else on the medical team had seen the true problem despite multiple examinations. The child started antibiotics, was referred to a dentist to have the abscess drained, and had a good outcome.

Suzanne C. Boulter, MD, adjunct clinical professor of pediatrics and community health at the Geisel School of Medicine at Dartmouth, Hanover, N.H., had noticed that many of her poorer patients had oral health problems, but many pediatric dentists were not able or willing to see them to provide treatment.

“Taking it one step further, you really want to prevent early childhood caries,” Dr. Boulter said. She started speaking up about oral health at pediatric meetings and became an early adopter of preventive interventions, including the use of fluoride varnish.

“Fluoride varnish is a sticky substance that has a very high concentration of fluoride in it,and it’s a very powerful reducer of oral childhood caries, by maybe 35%,” Dr. Boulter said.

Applying the varnish is fairly simple, but it had never been part of the well-child exam. Dr. Boulter started using it around 2005.

Initially, convincing other pediatricians to adopt this procedure – when visits are already time-constrained – was not always easy, she said.

Now that fluoride varnish is recommended for all children and is part of Bright Futures recommendations and is covered in the Affordable Care Act, “it became more the norm,” Dr. Boulter said. But there is room for improvement.

“There is still not a high enough percentage of pediatricians and family physicians who actually have incorporated application of fluoride varnish into their practice,” she said.
 

Brush, book, bed

Clinicians can take other steps to counsel parents about protecting their child’s teeth, like making sure that their teeth get brushed before bed, encouraging kids to drink tap water, especially if it’s fluoridated, and avoiding juice. The AAP has a program called Brush, Book, Bed to promote oral health, along with reading and good sleep habits.

Dr. Hoss noted that parents, and even dentists, may have misconceptions about optimal oral hygiene. “For example, you’re supposed to brush your teeth before breakfast, not after breakfast. But I’ve seen dentists even tell their patients, brush after breakfast,” he said.

In addition, people should brush gently but thoroughly using high-quality toothbrushes with soft bristles – “not scrubbing the teeth away with a coarse toothbrush,” he said.

Dr. Niederman has studied ways to prevent caries in underserved communities and is co-CEO of CariedAway, an organization that brings free cavity-prevention programs to schools.

In an average classroom of 24 students, about 6 children would be expected to have untreated tooth decay, Dr. Niederman said. And about 10% of the children with untreated tooth decay experience a toothache. So in two classrooms, at least one child would be expected to be experiencing pain, while the other students with caries might feel a lesser degree of discomfort. “That reduces presenteeism in the classroom and certainly presenteeism for the kid with a toothache,” Dr. Niederman said.

In communities with less access to dental care, including rural areas, the number of students with tooth decay might be double.

The new WHO report shows that the prevalence of caries in permanent teeth in various countries has remained at roughly 30%, regardless of a country’s income level, and despite efforts to bolster the dental workforce, said Dr. Niederman.

“The dental system is similar globally and focused on drilling and filling rather than prevention,” he said.

A 2019 Lancet series on oral health called for radical change in dental care, Dr. Niederman noted. “One of those radical changes would be primary care physicians or their offices participating in outreach programs to deliver care in schools,” he said.

Dr. Fisher-Owens is on a data and safety monitoring board for research by Colgate. Dr. Boulter serves on the editorial advisory board of Pediatric News. Dr. Hoss is the author of “If Your Mouth Could Talk” and the founder and CEO of SuperMouth, which markets children’s oral care products. Dr. Niederman’s research has used toothbrushes, toothpaste, and fluoride varnish donated by Colgate; silver diamine fluoride provided by Elevate Oral Health; and glass ionomer provided by GC America.

New cases of COVID-19 in children largely held steady over the Thanksgiving holiday, but hospital admissions are telling a somewhat different story.

New pediatric COVID cases for the week ending on Thanksgiving (11/18-11/24) were up by 5.3% over the previous week, but in the most recent week (11/25-12/1) new cases dropped by 2.6%, according to state data collected by the American Academy of Pediatrics and the Children’s Hospital Association.

In both weeks, though, the total case count stayed below 30,000 – a streak that has now lasted 8 weeks – so the actual number of weekly cases remained fairly low, the AAP/CHA weekly report indicates.

The nation’s emergency departments also experienced a small Thanksgiving bump, as the proportion of visits with diagnosed COVID went from 1.0% of all ED visits for children aged 0-11 years on Nov. 14 to 2.0% on Nov. 27, just 3 days after the official holiday, based on data from the Centers for Disease Control and Prevention. The rate was down to 1.5% on Dec. 1, and similar patterns can be seen for children aged 12-15 and 16-17 years.

New hospital admissions, on the other hand, seem to be following a different path, at least according to the CDC. The hospitalization rate for children aged 0-17 years bottomed out at 0.16 new admissions per 100,000 population back on Oct. 21 and has climbed fairly steadily since then. It was up to 0.20 per 100,000 by Nov. 14, had reached 0.22 per 100,000 on Thanksgiving day (11/24), and then continued to 0.26 per 100,000 by Dec. 2, the latest date for which CDC data are available.

The hospitalization story, however, offers yet another twist. The New York Times, using data from the U.S. Department of Health & Human Services, reports that new COVID-related admissions have held steady at 1.0 per 100,000 since Nov. 18. The rate is much higher than has been reported by the CDC, but no increase can be seen in recent weeks among children, which is not the case for Americans overall, Medscape recently reported.

New cases of COVID-19 in children largely held steady over the Thanksgiving holiday, but hospital admissions are telling a somewhat different story.

New pediatric COVID cases for the week ending on Thanksgiving (11/18-11/24) were up by 5.3% over the previous week, but in the most recent week (11/25-12/1) new cases dropped by 2.6%, according to state data collected by the American Academy of Pediatrics and the Children’s Hospital Association.

In both weeks, though, the total case count stayed below 30,000 – a streak that has now lasted 8 weeks – so the actual number of weekly cases remained fairly low, the AAP/CHA weekly report indicates.

The nation’s emergency departments also experienced a small Thanksgiving bump, as the proportion of visits with diagnosed COVID went from 1.0% of all ED visits for children aged 0-11 years on Nov. 14 to 2.0% on Nov. 27, just 3 days after the official holiday, based on data from the Centers for Disease Control and Prevention. The rate was down to 1.5% on Dec. 1, and similar patterns can be seen for children aged 12-15 and 16-17 years.

New hospital admissions, on the other hand, seem to be following a different path, at least according to the CDC. The hospitalization rate for children aged 0-17 years bottomed out at 0.16 new admissions per 100,000 population back on Oct. 21 and has climbed fairly steadily since then. It was up to 0.20 per 100,000 by Nov. 14, had reached 0.22 per 100,000 on Thanksgiving day (11/24), and then continued to 0.26 per 100,000 by Dec. 2, the latest date for which CDC data are available.

The hospitalization story, however, offers yet another twist. The New York Times, using data from the U.S. Department of Health & Human Services, reports that new COVID-related admissions have held steady at 1.0 per 100,000 since Nov. 18. The rate is much higher than has been reported by the CDC, but no increase can be seen in recent weeks among children, which is not the case for Americans overall, Medscape recently reported.

New cases of COVID-19 in children largely held steady over the Thanksgiving holiday, but hospital admissions are telling a somewhat different story.

New pediatric COVID cases for the week ending on Thanksgiving (11/18-11/24) were up by 5.3% over the previous week, but in the most recent week (11/25-12/1) new cases dropped by 2.6%, according to state data collected by the American Academy of Pediatrics and the Children’s Hospital Association.

In both weeks, though, the total case count stayed below 30,000 – a streak that has now lasted 8 weeks – so the actual number of weekly cases remained fairly low, the AAP/CHA weekly report indicates.

The nation’s emergency departments also experienced a small Thanksgiving bump, as the proportion of visits with diagnosed COVID went from 1.0% of all ED visits for children aged 0-11 years on Nov. 14 to 2.0% on Nov. 27, just 3 days after the official holiday, based on data from the Centers for Disease Control and Prevention. The rate was down to 1.5% on Dec. 1, and similar patterns can be seen for children aged 12-15 and 16-17 years.

New hospital admissions, on the other hand, seem to be following a different path, at least according to the CDC. The hospitalization rate for children aged 0-17 years bottomed out at 0.16 new admissions per 100,000 population back on Oct. 21 and has climbed fairly steadily since then. It was up to 0.20 per 100,000 by Nov. 14, had reached 0.22 per 100,000 on Thanksgiving day (11/24), and then continued to 0.26 per 100,000 by Dec. 2, the latest date for which CDC data are available.

The hospitalization story, however, offers yet another twist. The New York Times, using data from the U.S. Department of Health & Human Services, reports that new COVID-related admissions have held steady at 1.0 per 100,000 since Nov. 18. The rate is much higher than has been reported by the CDC, but no increase can be seen in recent weeks among children, which is not the case for Americans overall, Medscape recently reported.

With youth obesity on the rise – an estimated 1 in 5 youths are impacted by obesity, according to the Centers for Disease Control and Prevention – conversations about healthy weight are becoming more commonplace, not only in the pediatrician’s office, but at home, too. But the language we use around this sensitive topic is important, as youths are acutely aware that words have a direct impact on their mental health.

Sixteen-year-old Avery DiCocco of Northbrook, Ill., knows how vulnerable teenagers feel. 

“I think it definitely matters the way that parents and doctors address weight,” she said. “You never know who may be insecure, and using negative words could go a lot further than they think with impacting self-esteem.” 

A new study published in Pediatrics brings light to the words that parents (and providers) use when speaking to youths (ages 10-17) about their weight.

Researchers from the University of Connecticut Rudd Center for Food Policy & Health, Hartford, led an online survey of youths and their parents. Those who took part were asked about 27  terms related to body weight. Parents were asked to comment on their use of these words, while youths commented on the emotional response. The researchers said 1,936 parents and 2,032 adolescents were surveyed between September and December 2021.

Although results skewed toward the use of more positive words, such as “healthy weight,” over terms like “obese,” “fat” or “large,” there was variation across ethnicity, sexual orientation, and weight status. For example, it was noted in the study, funded by WW International, that preference for the word “curvy” was higher among Hispanic/Latino youths, sexual minority youths, and those with a body mass index in the 95th percentile, compared with their White, heterosexual, and lower-weight peers.
 

Words matter

In 2017, the American Academy of Pediatrics came out with a policy statement on weight stigma and the need for doctors to use more neutral language and less stigmatizing terms in practice when discussing weight among youths.

But one of the reasons this new study is important, said Gregory Germain, MD, associate chief of pediatrics at Yale New Haven (Conn.) Children’s Hospital, is that this study focuses on parents who interact with their kids much more often than a pediatrician who sees them a few times a year.

“Parental motivation, discussion, interaction on a consistent basis – that dialogue is so critical in kids with obesity,” said Germain, who stresses that all adults, coaches, and educators should consider this study as well.

“When we think about those detrimental impacts on mental health when more stigmatizing language is used, just us being more mindful in how we are talking to youth can make such a profound impact,” said Rebecca Kamody, PhD, a clinical psychologist at Yale University, with a research and clinical focus on eating and weight disorders.

“In essence, this is a low-hanging fruit intervention,” she said. 

Dr. Kamody recommends we take a lesson from “cultural humility” in psychology to understand how to approach this with kids, calling for “the humbleness as parents or providers in asking someone what they want used to make it the safest place for a discussion with our youth.”
 

One piece of the puzzle 

Dr. Germain and Dr. Kamody agreed that language in discussing this topic is important but that we need to recognize that this topic in general is extremely tricky.

For one, “there are these very real metabolic complications of having high weight at a young age,” said Kamody, who stresses the need for balance to make real change.

Dr. Germain agreed. “Finding a fine line between discussing obesity and not kicking your kid into disordered eating is important.”

The researchers also recognize the limits of an online study, where self-reporting parents may not want to admit using negative weight terminology, but certainly believe it’s a start in identifying some of the undesirable patterns that may be occurring when it comes to weight.

“The overarching message is a positive one, that with our preteens and teenage kids, we need to watch our language, to create a nonjudgmental and safe environment to discuss weight and any issue involved with taking care of themselves,” said Dr. Germain.

A version of this article first appeared on Medscape.com.

With youth obesity on the rise – an estimated 1 in 5 youths are impacted by obesity, according to the Centers for Disease Control and Prevention – conversations about healthy weight are becoming more commonplace, not only in the pediatrician’s office, but at home, too. But the language we use around this sensitive topic is important, as youths are acutely aware that words have a direct impact on their mental health.

Sixteen-year-old Avery DiCocco of Northbrook, Ill., knows how vulnerable teenagers feel. 

“I think it definitely matters the way that parents and doctors address weight,” she said. “You never know who may be insecure, and using negative words could go a lot further than they think with impacting self-esteem.” 

A new study published in Pediatrics brings light to the words that parents (and providers) use when speaking to youths (ages 10-17) about their weight.

Researchers from the University of Connecticut Rudd Center for Food Policy & Health, Hartford, led an online survey of youths and their parents. Those who took part were asked about 27  terms related to body weight. Parents were asked to comment on their use of these words, while youths commented on the emotional response. The researchers said 1,936 parents and 2,032 adolescents were surveyed between September and December 2021.

Although results skewed toward the use of more positive words, such as “healthy weight,” over terms like “obese,” “fat” or “large,” there was variation across ethnicity, sexual orientation, and weight status. For example, it was noted in the study, funded by WW International, that preference for the word “curvy” was higher among Hispanic/Latino youths, sexual minority youths, and those with a body mass index in the 95th percentile, compared with their White, heterosexual, and lower-weight peers.
 

Words matter

In 2017, the American Academy of Pediatrics came out with a policy statement on weight stigma and the need for doctors to use more neutral language and less stigmatizing terms in practice when discussing weight among youths.

But one of the reasons this new study is important, said Gregory Germain, MD, associate chief of pediatrics at Yale New Haven (Conn.) Children’s Hospital, is that this study focuses on parents who interact with their kids much more often than a pediatrician who sees them a few times a year.

“Parental motivation, discussion, interaction on a consistent basis – that dialogue is so critical in kids with obesity,” said Germain, who stresses that all adults, coaches, and educators should consider this study as well.

“When we think about those detrimental impacts on mental health when more stigmatizing language is used, just us being more mindful in how we are talking to youth can make such a profound impact,” said Rebecca Kamody, PhD, a clinical psychologist at Yale University, with a research and clinical focus on eating and weight disorders.

“In essence, this is a low-hanging fruit intervention,” she said. 

Dr. Kamody recommends we take a lesson from “cultural humility” in psychology to understand how to approach this with kids, calling for “the humbleness as parents or providers in asking someone what they want used to make it the safest place for a discussion with our youth.”
 

One piece of the puzzle 

Dr. Germain and Dr. Kamody agreed that language in discussing this topic is important but that we need to recognize that this topic in general is extremely tricky.

For one, “there are these very real metabolic complications of having high weight at a young age,” said Kamody, who stresses the need for balance to make real change.

Dr. Germain agreed. “Finding a fine line between discussing obesity and not kicking your kid into disordered eating is important.”

The researchers also recognize the limits of an online study, where self-reporting parents may not want to admit using negative weight terminology, but certainly believe it’s a start in identifying some of the undesirable patterns that may be occurring when it comes to weight.

“The overarching message is a positive one, that with our preteens and teenage kids, we need to watch our language, to create a nonjudgmental and safe environment to discuss weight and any issue involved with taking care of themselves,” said Dr. Germain.

A version of this article first appeared on Medscape.com.

With youth obesity on the rise – an estimated 1 in 5 youths are impacted by obesity, according to the Centers for Disease Control and Prevention – conversations about healthy weight are becoming more commonplace, not only in the pediatrician’s office, but at home, too. But the language we use around this sensitive topic is important, as youths are acutely aware that words have a direct impact on their mental health.

Sixteen-year-old Avery DiCocco of Northbrook, Ill., knows how vulnerable teenagers feel. 

“I think it definitely matters the way that parents and doctors address weight,” she said. “You never know who may be insecure, and using negative words could go a lot further than they think with impacting self-esteem.” 

A new study published in Pediatrics brings light to the words that parents (and providers) use when speaking to youths (ages 10-17) about their weight.

Researchers from the University of Connecticut Rudd Center for Food Policy & Health, Hartford, led an online survey of youths and their parents. Those who took part were asked about 27  terms related to body weight. Parents were asked to comment on their use of these words, while youths commented on the emotional response. The researchers said 1,936 parents and 2,032 adolescents were surveyed between September and December 2021.

Although results skewed toward the use of more positive words, such as “healthy weight,” over terms like “obese,” “fat” or “large,” there was variation across ethnicity, sexual orientation, and weight status. For example, it was noted in the study, funded by WW International, that preference for the word “curvy” was higher among Hispanic/Latino youths, sexual minority youths, and those with a body mass index in the 95th percentile, compared with their White, heterosexual, and lower-weight peers.
 

Words matter

In 2017, the American Academy of Pediatrics came out with a policy statement on weight stigma and the need for doctors to use more neutral language and less stigmatizing terms in practice when discussing weight among youths.

But one of the reasons this new study is important, said Gregory Germain, MD, associate chief of pediatrics at Yale New Haven (Conn.) Children’s Hospital, is that this study focuses on parents who interact with their kids much more often than a pediatrician who sees them a few times a year.

“Parental motivation, discussion, interaction on a consistent basis – that dialogue is so critical in kids with obesity,” said Germain, who stresses that all adults, coaches, and educators should consider this study as well.

“When we think about those detrimental impacts on mental health when more stigmatizing language is used, just us being more mindful in how we are talking to youth can make such a profound impact,” said Rebecca Kamody, PhD, a clinical psychologist at Yale University, with a research and clinical focus on eating and weight disorders.

“In essence, this is a low-hanging fruit intervention,” she said. 

Dr. Kamody recommends we take a lesson from “cultural humility” in psychology to understand how to approach this with kids, calling for “the humbleness as parents or providers in asking someone what they want used to make it the safest place for a discussion with our youth.”
 

One piece of the puzzle 

Dr. Germain and Dr. Kamody agreed that language in discussing this topic is important but that we need to recognize that this topic in general is extremely tricky.

For one, “there are these very real metabolic complications of having high weight at a young age,” said Kamody, who stresses the need for balance to make real change.

Dr. Germain agreed. “Finding a fine line between discussing obesity and not kicking your kid into disordered eating is important.”

The researchers also recognize the limits of an online study, where self-reporting parents may not want to admit using negative weight terminology, but certainly believe it’s a start in identifying some of the undesirable patterns that may be occurring when it comes to weight.

“The overarching message is a positive one, that with our preteens and teenage kids, we need to watch our language, to create a nonjudgmental and safe environment to discuss weight and any issue involved with taking care of themselves,” said Dr. Germain.

A version of this article first appeared on Medscape.com.