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Dynamic ultrasonography: An idea whose time has come (videos)
VIDEO 1A Liberal use of your nonscanning hand on dynamic scanning shows “wiggling” of debris classic of a hemorrhagic corpus luteum
--
VIDEO 1B Liberal use of your nonscanning hand helps identify a small postmenopausal ovary
--
VIDEO 2A Dynamic scanning can give the correct diagnosis even though clips were used! This clip appears to show a relatively normal uterus
--
VIDEO 2B Dynamic scanning can give the correct diagnosis even though clips were used! Same patient as in Video 2A showing what appears to be a solid adnexal mass
--
VIDEO 2C Dynamic scan clearly shows the “mass” to be a pedunculated fibroid
--
VIDEO 3A Video clip of a classic endometrioma
--
VIDEO 3B Classic endometrioma showing no Doppler flow internally
--
VIDEO 4A Video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 4B Another example of video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 4C Another example of video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 5A Sliding organ sign with normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5B Sliding sign showing adherent ovary (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5C Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5D Left ovary: Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5E Right ovary: Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5F Normal mobility even with a classic endometrioma (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5G Adherent ovary (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 6A Dynamic scanning shows the ovary to be “stuck” in the cul-de-sac in a patient with endometriosis
--
VIDEO 6B Dynamic scanning in another patient with endometriosis showing markedly retroverted uterus with adherent bowel posteriorly
--
VIDEO 6C Dynamic scanning in another patient with endometriosis showing markedly retroverted uterus with adherent bowel posteriorly
--
VIDEO 7 Cystocele or urethral lengthening are key elements for the diagnosis of incontinence with or without pelvic relaxation
--
VIDEO 8 Urethral lengthening is a key element for the diagnosis of incontinence with or without pelvic relaxation
Dr. Goldstein is Professor of Obstetrics and Gynecology, New York University Grossman School of Medicine, Director of Gynecologic Ultrasound, and Co-Director of Bone Densitometry, New York University Langone Medical Center, New York. He serves on the OBG Management Board of Editors.
The author reports no financial relationships relevant to this article.
Dr. Goldstein is Professor of Obstetrics and Gynecology, New York University Grossman School of Medicine, Director of Gynecologic Ultrasound, and Co-Director of Bone Densitometry, New York University Langone Medical Center, New York. He serves on the OBG Management Board of Editors.
The author reports no financial relationships relevant to this article.
Dr. Goldstein is Professor of Obstetrics and Gynecology, New York University Grossman School of Medicine, Director of Gynecologic Ultrasound, and Co-Director of Bone Densitometry, New York University Langone Medical Center, New York. He serves on the OBG Management Board of Editors.
The author reports no financial relationships relevant to this article.
VIDEO 1A Liberal use of your nonscanning hand on dynamic scanning shows “wiggling” of debris classic of a hemorrhagic corpus luteum
--
VIDEO 1B Liberal use of your nonscanning hand helps identify a small postmenopausal ovary
--
VIDEO 2A Dynamic scanning can give the correct diagnosis even though clips were used! This clip appears to show a relatively normal uterus
--
VIDEO 2B Dynamic scanning can give the correct diagnosis even though clips were used! Same patient as in Video 2A showing what appears to be a solid adnexal mass
--
VIDEO 2C Dynamic scan clearly shows the “mass” to be a pedunculated fibroid
--
VIDEO 3A Video clip of a classic endometrioma
--
VIDEO 3B Classic endometrioma showing no Doppler flow internally
--
VIDEO 4A Video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 4B Another example of video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 4C Another example of video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 5A Sliding organ sign with normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5B Sliding sign showing adherent ovary (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5C Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5D Left ovary: Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5E Right ovary: Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5F Normal mobility even with a classic endometrioma (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5G Adherent ovary (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 6A Dynamic scanning shows the ovary to be “stuck” in the cul-de-sac in a patient with endometriosis
--
VIDEO 6B Dynamic scanning in another patient with endometriosis showing markedly retroverted uterus with adherent bowel posteriorly
--
VIDEO 6C Dynamic scanning in another patient with endometriosis showing markedly retroverted uterus with adherent bowel posteriorly
--
VIDEO 7 Cystocele or urethral lengthening are key elements for the diagnosis of incontinence with or without pelvic relaxation
--
VIDEO 8 Urethral lengthening is a key element for the diagnosis of incontinence with or without pelvic relaxation
VIDEO 1A Liberal use of your nonscanning hand on dynamic scanning shows “wiggling” of debris classic of a hemorrhagic corpus luteum
--
VIDEO 1B Liberal use of your nonscanning hand helps identify a small postmenopausal ovary
--
VIDEO 2A Dynamic scanning can give the correct diagnosis even though clips were used! This clip appears to show a relatively normal uterus
--
VIDEO 2B Dynamic scanning can give the correct diagnosis even though clips were used! Same patient as in Video 2A showing what appears to be a solid adnexal mass
--
VIDEO 2C Dynamic scan clearly shows the “mass” to be a pedunculated fibroid
--
VIDEO 3A Video clip of a classic endometrioma
--
VIDEO 3B Classic endometrioma showing no Doppler flow internally
--
VIDEO 4A Video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 4B Another example of video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 4C Another example of video of dynamic assessment in a patient with pain symptoms with a hydrosalpinx
--
VIDEO 5A Sliding organ sign with normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5B Sliding sign showing adherent ovary (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5C Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5D Left ovary: Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5E Right ovary: Normal mobility (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5F Normal mobility even with a classic endometrioma (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 5G Adherent ovary (Courtesy of Dr. Ilan Timor-Tritsch)
--
VIDEO 6A Dynamic scanning shows the ovary to be “stuck” in the cul-de-sac in a patient with endometriosis
--
VIDEO 6B Dynamic scanning in another patient with endometriosis showing markedly retroverted uterus with adherent bowel posteriorly
--
VIDEO 6C Dynamic scanning in another patient with endometriosis showing markedly retroverted uterus with adherent bowel posteriorly
--
VIDEO 7 Cystocele or urethral lengthening are key elements for the diagnosis of incontinence with or without pelvic relaxation
--
VIDEO 8 Urethral lengthening is a key element for the diagnosis of incontinence with or without pelvic relaxation
Physicians’ trust in health care leadership drops in pandemic
according to a survey conducted by NORC at the University of Chicago on behalf of the American Board of Internal Medicine Foundation.
Survey results, released May 21, indicate that 30% of physicians say their trust in the U.S. health care system and health care leadership has decreased during the pandemic. Only 18% reported an increase in trust.
Physicians, however, have great trust in their fellow clinicians.
In the survey of 600 physicians, 94% said they trust doctors within their practice; 85% trusted doctors outside of their practice; and 89% trusted nurses. That trust increased during the pandemic, with 41% saying their trust in fellow physicians rose and 37% saying their trust in nurses did.
In a separate survey, NORC asked patients about their trust in various aspects of health care. Among 2,069 respondents, a wide majority reported that they trust doctors (84%) and nurses (85%), but only 64% trusted the health care system as a whole. One in three consumers (32%) said their trust in the health care system decreased during the pandemic, compared with 11% who said their trust increased.
The ABIM Foundation released the research findings on May 21 as part of Building Trust, a national campaign that aims to boost trust among patients, clinicians, system leaders, researchers, and others.
Richard J. Baron, MD, president and chief executive officer of the ABIM Foundation, said in an interview, “Clearly there’s lower trust in health care organization leaders and executives, and that’s troubling.
“Science by itself is not enough,” he said. “Becoming trustworthy has to be a core project of everybody in health care.”
Deterioration in physicians’ trust during the pandemic comes in part from failed promises of adequate personal protective equipment and some physicians’ loss of income as a result of the crisis, Dr. Baron said.
He added that the vaccine rollout was very uneven and that policies as to which elective procedures could be performed were handled differently in different parts of the country.
He also noted that, early on, transparency was lacking as to how many COVID patients hospitals were treating, which may have contributed to the decrease in trust in the system.
Fear of being known as ‘the COVID hospital’
Hospitals were afraid of being known as “the COVID hospital” and losing patients who were afraid to come there, Dr. Baron said.
He said the COVID-19 epidemic exacerbated problems regarding trust, but that trust has been declining for some time. The Building Trust campaign will focus on solutions in breaches of trust as physicians move increasingly toward being employees of huge systems, according to Dr. Baron.
However, trust works both ways, Dr. Baron notes. Physicians can be champions for their health care system or “throw the system under the bus,” he said.
For example, if a patient complains about the appointment system, clinicians who trust their institutions may say the system usually works and that they will try to make sure the patient has a better experience next time. Clinicians without trust may say they agree that the health care system doesn’t know what it is doing, and patients may further lose confidence when physicians validate their complaint, and patients may then go elsewhere.
78% of patients trust primary care doctor
When asked whether they trust their primary care physician, 78% of patients said yes. However, trust in doctors was higher among people who were older (90%), White (82%), or had high income (89%). Among people reporting lower trust, 25% said their physician spends too little time with them, and 14% said their doctor does not know or listen to them.
The survey shows that government agencies have work to do to earn trust. Responses indicate that 43% of physicians said they have “complete trust” in government health care agencies, such as the U.S. Food and Drug Administration and the Centers for Disease Control and Prevention, which is substantially higher than other parts of the health care system. However, trust in agencies declined for 43% of physician respondents and increased for 21%.
Dhruv Khullar, MD, MPP, of the department of health policy and economics at Weill Cornell Medical College in New York, told this news organization the survey results match what he sees anecdotally in medicine – that physicians have been losing trust in the system but not in their colleagues.
He said the sample size of 600 is enough to be influential, though he said he would like to know the response rate, which was not calculated for this survey.
He added that, in large part, physicians’ lack of trust in their systems may come from generally being asked to see more patients and to meet more metrics during the same or shorter periods.
Physicians’ lack of trust in the system can have significant consequences, he said. It can lead to burnout, which has been linked with poorer quality of care and physician turnover, he noted.
COVID-19 led some physicians to wonder whether their system had their best interests at heart, insofar as access to adequate medicines and supplies as well as emotional support were inconsistent, Dr. Khullar said.
He said that to regain trust health care systems need to ask themselves questions in three areas. The first is whether their goals are focused on the best interest of the organization or the best interest of the patient.
“Next is competency,” Dr. Khullar said. “Maybe your motives are right, but are you able to deliver? Are you delivering a good product, whether clinical services or something else?”
The third area is transparency, he said. “Are you going to be honest and forthright in what we’re doing and where we’re going?”
Caroline Pearson, senior vice president of health care strategy for NORC, said the emailed survey was conducted between Dec. 29, 2020, and Feb. 5, 2021, with a health care survey partner that maintains a nationwide panel of physicians across specialties.
She said this report is fairly novel insofar as surveys are more typically conducted regarding patients’ trust of their doctors or of the health care system.
Ms. Pearson said because health care is delivered in teams, understanding the level of trust among the entities helps ensure that care will be delivered effectively and seamlessly with high quality.
“We want our patients to trust our doctors, but we really want doctors to trust each other and trust the hospitals and systems in which they’re working,” she said.
Dr. Baron, Ms. Pearson, and Dr. Khullar report no relevant financial relationships.
A version of this article first appeared on Medscape.com.
according to a survey conducted by NORC at the University of Chicago on behalf of the American Board of Internal Medicine Foundation.
Survey results, released May 21, indicate that 30% of physicians say their trust in the U.S. health care system and health care leadership has decreased during the pandemic. Only 18% reported an increase in trust.
Physicians, however, have great trust in their fellow clinicians.
In the survey of 600 physicians, 94% said they trust doctors within their practice; 85% trusted doctors outside of their practice; and 89% trusted nurses. That trust increased during the pandemic, with 41% saying their trust in fellow physicians rose and 37% saying their trust in nurses did.
In a separate survey, NORC asked patients about their trust in various aspects of health care. Among 2,069 respondents, a wide majority reported that they trust doctors (84%) and nurses (85%), but only 64% trusted the health care system as a whole. One in three consumers (32%) said their trust in the health care system decreased during the pandemic, compared with 11% who said their trust increased.
The ABIM Foundation released the research findings on May 21 as part of Building Trust, a national campaign that aims to boost trust among patients, clinicians, system leaders, researchers, and others.
Richard J. Baron, MD, president and chief executive officer of the ABIM Foundation, said in an interview, “Clearly there’s lower trust in health care organization leaders and executives, and that’s troubling.
“Science by itself is not enough,” he said. “Becoming trustworthy has to be a core project of everybody in health care.”
Deterioration in physicians’ trust during the pandemic comes in part from failed promises of adequate personal protective equipment and some physicians’ loss of income as a result of the crisis, Dr. Baron said.
He added that the vaccine rollout was very uneven and that policies as to which elective procedures could be performed were handled differently in different parts of the country.
He also noted that, early on, transparency was lacking as to how many COVID patients hospitals were treating, which may have contributed to the decrease in trust in the system.
Fear of being known as ‘the COVID hospital’
Hospitals were afraid of being known as “the COVID hospital” and losing patients who were afraid to come there, Dr. Baron said.
He said the COVID-19 epidemic exacerbated problems regarding trust, but that trust has been declining for some time. The Building Trust campaign will focus on solutions in breaches of trust as physicians move increasingly toward being employees of huge systems, according to Dr. Baron.
However, trust works both ways, Dr. Baron notes. Physicians can be champions for their health care system or “throw the system under the bus,” he said.
For example, if a patient complains about the appointment system, clinicians who trust their institutions may say the system usually works and that they will try to make sure the patient has a better experience next time. Clinicians without trust may say they agree that the health care system doesn’t know what it is doing, and patients may further lose confidence when physicians validate their complaint, and patients may then go elsewhere.
78% of patients trust primary care doctor
When asked whether they trust their primary care physician, 78% of patients said yes. However, trust in doctors was higher among people who were older (90%), White (82%), or had high income (89%). Among people reporting lower trust, 25% said their physician spends too little time with them, and 14% said their doctor does not know or listen to them.
The survey shows that government agencies have work to do to earn trust. Responses indicate that 43% of physicians said they have “complete trust” in government health care agencies, such as the U.S. Food and Drug Administration and the Centers for Disease Control and Prevention, which is substantially higher than other parts of the health care system. However, trust in agencies declined for 43% of physician respondents and increased for 21%.
Dhruv Khullar, MD, MPP, of the department of health policy and economics at Weill Cornell Medical College in New York, told this news organization the survey results match what he sees anecdotally in medicine – that physicians have been losing trust in the system but not in their colleagues.
He said the sample size of 600 is enough to be influential, though he said he would like to know the response rate, which was not calculated for this survey.
He added that, in large part, physicians’ lack of trust in their systems may come from generally being asked to see more patients and to meet more metrics during the same or shorter periods.
Physicians’ lack of trust in the system can have significant consequences, he said. It can lead to burnout, which has been linked with poorer quality of care and physician turnover, he noted.
COVID-19 led some physicians to wonder whether their system had their best interests at heart, insofar as access to adequate medicines and supplies as well as emotional support were inconsistent, Dr. Khullar said.
He said that to regain trust health care systems need to ask themselves questions in three areas. The first is whether their goals are focused on the best interest of the organization or the best interest of the patient.
“Next is competency,” Dr. Khullar said. “Maybe your motives are right, but are you able to deliver? Are you delivering a good product, whether clinical services or something else?”
The third area is transparency, he said. “Are you going to be honest and forthright in what we’re doing and where we’re going?”
Caroline Pearson, senior vice president of health care strategy for NORC, said the emailed survey was conducted between Dec. 29, 2020, and Feb. 5, 2021, with a health care survey partner that maintains a nationwide panel of physicians across specialties.
She said this report is fairly novel insofar as surveys are more typically conducted regarding patients’ trust of their doctors or of the health care system.
Ms. Pearson said because health care is delivered in teams, understanding the level of trust among the entities helps ensure that care will be delivered effectively and seamlessly with high quality.
“We want our patients to trust our doctors, but we really want doctors to trust each other and trust the hospitals and systems in which they’re working,” she said.
Dr. Baron, Ms. Pearson, and Dr. Khullar report no relevant financial relationships.
A version of this article first appeared on Medscape.com.
according to a survey conducted by NORC at the University of Chicago on behalf of the American Board of Internal Medicine Foundation.
Survey results, released May 21, indicate that 30% of physicians say their trust in the U.S. health care system and health care leadership has decreased during the pandemic. Only 18% reported an increase in trust.
Physicians, however, have great trust in their fellow clinicians.
In the survey of 600 physicians, 94% said they trust doctors within their practice; 85% trusted doctors outside of their practice; and 89% trusted nurses. That trust increased during the pandemic, with 41% saying their trust in fellow physicians rose and 37% saying their trust in nurses did.
In a separate survey, NORC asked patients about their trust in various aspects of health care. Among 2,069 respondents, a wide majority reported that they trust doctors (84%) and nurses (85%), but only 64% trusted the health care system as a whole. One in three consumers (32%) said their trust in the health care system decreased during the pandemic, compared with 11% who said their trust increased.
The ABIM Foundation released the research findings on May 21 as part of Building Trust, a national campaign that aims to boost trust among patients, clinicians, system leaders, researchers, and others.
Richard J. Baron, MD, president and chief executive officer of the ABIM Foundation, said in an interview, “Clearly there’s lower trust in health care organization leaders and executives, and that’s troubling.
“Science by itself is not enough,” he said. “Becoming trustworthy has to be a core project of everybody in health care.”
Deterioration in physicians’ trust during the pandemic comes in part from failed promises of adequate personal protective equipment and some physicians’ loss of income as a result of the crisis, Dr. Baron said.
He added that the vaccine rollout was very uneven and that policies as to which elective procedures could be performed were handled differently in different parts of the country.
He also noted that, early on, transparency was lacking as to how many COVID patients hospitals were treating, which may have contributed to the decrease in trust in the system.
Fear of being known as ‘the COVID hospital’
Hospitals were afraid of being known as “the COVID hospital” and losing patients who were afraid to come there, Dr. Baron said.
He said the COVID-19 epidemic exacerbated problems regarding trust, but that trust has been declining for some time. The Building Trust campaign will focus on solutions in breaches of trust as physicians move increasingly toward being employees of huge systems, according to Dr. Baron.
However, trust works both ways, Dr. Baron notes. Physicians can be champions for their health care system or “throw the system under the bus,” he said.
For example, if a patient complains about the appointment system, clinicians who trust their institutions may say the system usually works and that they will try to make sure the patient has a better experience next time. Clinicians without trust may say they agree that the health care system doesn’t know what it is doing, and patients may further lose confidence when physicians validate their complaint, and patients may then go elsewhere.
78% of patients trust primary care doctor
When asked whether they trust their primary care physician, 78% of patients said yes. However, trust in doctors was higher among people who were older (90%), White (82%), or had high income (89%). Among people reporting lower trust, 25% said their physician spends too little time with them, and 14% said their doctor does not know or listen to them.
The survey shows that government agencies have work to do to earn trust. Responses indicate that 43% of physicians said they have “complete trust” in government health care agencies, such as the U.S. Food and Drug Administration and the Centers for Disease Control and Prevention, which is substantially higher than other parts of the health care system. However, trust in agencies declined for 43% of physician respondents and increased for 21%.
Dhruv Khullar, MD, MPP, of the department of health policy and economics at Weill Cornell Medical College in New York, told this news organization the survey results match what he sees anecdotally in medicine – that physicians have been losing trust in the system but not in their colleagues.
He said the sample size of 600 is enough to be influential, though he said he would like to know the response rate, which was not calculated for this survey.
He added that, in large part, physicians’ lack of trust in their systems may come from generally being asked to see more patients and to meet more metrics during the same or shorter periods.
Physicians’ lack of trust in the system can have significant consequences, he said. It can lead to burnout, which has been linked with poorer quality of care and physician turnover, he noted.
COVID-19 led some physicians to wonder whether their system had their best interests at heart, insofar as access to adequate medicines and supplies as well as emotional support were inconsistent, Dr. Khullar said.
He said that to regain trust health care systems need to ask themselves questions in three areas. The first is whether their goals are focused on the best interest of the organization or the best interest of the patient.
“Next is competency,” Dr. Khullar said. “Maybe your motives are right, but are you able to deliver? Are you delivering a good product, whether clinical services or something else?”
The third area is transparency, he said. “Are you going to be honest and forthright in what we’re doing and where we’re going?”
Caroline Pearson, senior vice president of health care strategy for NORC, said the emailed survey was conducted between Dec. 29, 2020, and Feb. 5, 2021, with a health care survey partner that maintains a nationwide panel of physicians across specialties.
She said this report is fairly novel insofar as surveys are more typically conducted regarding patients’ trust of their doctors or of the health care system.
Ms. Pearson said because health care is delivered in teams, understanding the level of trust among the entities helps ensure that care will be delivered effectively and seamlessly with high quality.
“We want our patients to trust our doctors, but we really want doctors to trust each other and trust the hospitals and systems in which they’re working,” she said.
Dr. Baron, Ms. Pearson, and Dr. Khullar report no relevant financial relationships.
A version of this article first appeared on Medscape.com.
How advances in genomics have informed obstetrics practice
The publication of the draft sequence for the human genome changed the research and clinical medicine landscape forever. This genetic map created the possibility to develop more personalized health care and targeted therapeutics. It opened the door to the age of “big data” sets in biomedical research, fusing science, computer technology, and mathematics – the “s,” “t,” and “m” of “STEM.”
In the 20 years that followed the publication of the human genome, many advances in biomedicine occurred. Improvements in DNA sequencing technologies, built upon the original sequencing project, made the noninvasive prenatal screening test (NIPT) possible. The ease, speed, and cost effectiveness of sequencing has made diagnosing fetal structural anomalies using whole-exome sequencing a reality.
However, uncovering humanity’s genetic code introduced new quandaries and reopened old wounds: How would a person’s genetic data be used? Could a person’s risk for disease, identified through sequencing, lead to overdiagnosis? Would knowing the human genome reinforce age-old ideas that genes make one group superior or inferior? Could we now create “designer babies”?
This last question has become even more pressing with the advent of human gene editing technology, also known by its acronym “CRISPR.” , but it also has the potential for bringing us to the precipice of a Wellsian reality. The alarming claim that scientists had used CRISPR to edit the genes of human babies (Nature. 2020;577[7789]:154-5; doi:10.1038/d41586-020-00001-y) has rippled through the biomedical community and spurred numerous debates on the ethics of using such a powerful tool (Human Genome Editing: Science, Ethics, and Governance; doi: 10.17226/24623).
The passage of the Genetic Information Non-discrimination Act (GINA; https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008) in 2008 ensured that health insurance companies and employers could not use a person’s genome against them, creating a balance between the forces of “can we?” and “should we?” Yet, many ethical questions remain.
We have invited two experts from the University of Maryland (Baltimore) School of Medicine’s department of obstetrics, gynecology & reproductive sciences, Christopher Harman, MD, professor and chair, and Amanda Higgs, MGC, CGC, senior genetic counselor, to address how advances in genomics affect patient care and counseling.
Dr. Reece, who specializes in maternal-fetal medicine, is executive vice president for medical affairs at the University of Maryland, Baltimore, as well as the John Z. and Akiko K. Bowers Distinguished Professor and dean of the school of medicine. He is the medical editor of this column. He said he had no relevant financial disclosures. Contact him at [email protected].
The publication of the draft sequence for the human genome changed the research and clinical medicine landscape forever. This genetic map created the possibility to develop more personalized health care and targeted therapeutics. It opened the door to the age of “big data” sets in biomedical research, fusing science, computer technology, and mathematics – the “s,” “t,” and “m” of “STEM.”
In the 20 years that followed the publication of the human genome, many advances in biomedicine occurred. Improvements in DNA sequencing technologies, built upon the original sequencing project, made the noninvasive prenatal screening test (NIPT) possible. The ease, speed, and cost effectiveness of sequencing has made diagnosing fetal structural anomalies using whole-exome sequencing a reality.
However, uncovering humanity’s genetic code introduced new quandaries and reopened old wounds: How would a person’s genetic data be used? Could a person’s risk for disease, identified through sequencing, lead to overdiagnosis? Would knowing the human genome reinforce age-old ideas that genes make one group superior or inferior? Could we now create “designer babies”?
This last question has become even more pressing with the advent of human gene editing technology, also known by its acronym “CRISPR.” , but it also has the potential for bringing us to the precipice of a Wellsian reality. The alarming claim that scientists had used CRISPR to edit the genes of human babies (Nature. 2020;577[7789]:154-5; doi:10.1038/d41586-020-00001-y) has rippled through the biomedical community and spurred numerous debates on the ethics of using such a powerful tool (Human Genome Editing: Science, Ethics, and Governance; doi: 10.17226/24623).
The passage of the Genetic Information Non-discrimination Act (GINA; https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008) in 2008 ensured that health insurance companies and employers could not use a person’s genome against them, creating a balance between the forces of “can we?” and “should we?” Yet, many ethical questions remain.
We have invited two experts from the University of Maryland (Baltimore) School of Medicine’s department of obstetrics, gynecology & reproductive sciences, Christopher Harman, MD, professor and chair, and Amanda Higgs, MGC, CGC, senior genetic counselor, to address how advances in genomics affect patient care and counseling.
Dr. Reece, who specializes in maternal-fetal medicine, is executive vice president for medical affairs at the University of Maryland, Baltimore, as well as the John Z. and Akiko K. Bowers Distinguished Professor and dean of the school of medicine. He is the medical editor of this column. He said he had no relevant financial disclosures. Contact him at [email protected].
The publication of the draft sequence for the human genome changed the research and clinical medicine landscape forever. This genetic map created the possibility to develop more personalized health care and targeted therapeutics. It opened the door to the age of “big data” sets in biomedical research, fusing science, computer technology, and mathematics – the “s,” “t,” and “m” of “STEM.”
In the 20 years that followed the publication of the human genome, many advances in biomedicine occurred. Improvements in DNA sequencing technologies, built upon the original sequencing project, made the noninvasive prenatal screening test (NIPT) possible. The ease, speed, and cost effectiveness of sequencing has made diagnosing fetal structural anomalies using whole-exome sequencing a reality.
However, uncovering humanity’s genetic code introduced new quandaries and reopened old wounds: How would a person’s genetic data be used? Could a person’s risk for disease, identified through sequencing, lead to overdiagnosis? Would knowing the human genome reinforce age-old ideas that genes make one group superior or inferior? Could we now create “designer babies”?
This last question has become even more pressing with the advent of human gene editing technology, also known by its acronym “CRISPR.” , but it also has the potential for bringing us to the precipice of a Wellsian reality. The alarming claim that scientists had used CRISPR to edit the genes of human babies (Nature. 2020;577[7789]:154-5; doi:10.1038/d41586-020-00001-y) has rippled through the biomedical community and spurred numerous debates on the ethics of using such a powerful tool (Human Genome Editing: Science, Ethics, and Governance; doi: 10.17226/24623).
The passage of the Genetic Information Non-discrimination Act (GINA; https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008) in 2008 ensured that health insurance companies and employers could not use a person’s genome against them, creating a balance between the forces of “can we?” and “should we?” Yet, many ethical questions remain.
We have invited two experts from the University of Maryland (Baltimore) School of Medicine’s department of obstetrics, gynecology & reproductive sciences, Christopher Harman, MD, professor and chair, and Amanda Higgs, MGC, CGC, senior genetic counselor, to address how advances in genomics affect patient care and counseling.
Dr. Reece, who specializes in maternal-fetal medicine, is executive vice president for medical affairs at the University of Maryland, Baltimore, as well as the John Z. and Akiko K. Bowers Distinguished Professor and dean of the school of medicine. He is the medical editor of this column. He said he had no relevant financial disclosures. Contact him at [email protected].
Genetic screening and diagnosis: Key advancements and the role of genetic counseling
Preconception and prenatal genetic screening and diagnostic testing for genetic disorders are increasingly complex, with a burgeoning number of testing options and a shift in screening from situations identified as high-risk to more universal considerations. The American College of Obstetricians and Gynecologists now recommends that all patients – regardless of age or risk for chromosomal abnormalities – be offered both screening and diagnostic tests and counseled about the relative benefits and limitations of available tests. These recommendations represent a sea change for obstetrics.
Screening options now include expanded carrier screening that evaluates an individual’s carrier status for multiple conditions at once, regardless of ethnicity, and cell-free DNA screening using fetal DNA found in the maternal circulation. Chromosomal microarray analysis from a chorionic villus sampling or amniocentesis specimen detects tiny copy number variants, and increasingly detailed ultrasound images illuminate anatomic and physiologic anomalies that could not be seen or interpreted as recently as 5 years ago.
These advancements are remarkable, but they require attentive, personalized pre- and posttest genetic counseling. Genetic counselors are critical to this process, helping women and families understand and select screening tools, interpret test results, select diagnostic panels, and make decisions about invasive testing.
Counseling is essential as we seek and utilize genetic information that is no longer binary. It used to be that predictions of normality and abnormality were made with little gray area in between. – and genetic diagnosis is increasingly a lattice of details, variable expression, and even effects timing.
Expanded carrier screening
Carrier screening to determine if one or both parents are carriers for an autosomal recessive condition has historically involved a limited number of conditions chosen based on ethnicity. However, research has demonstrated the unreliability of this approach in our multicultural, multiracial society, in which many of our patients have mixed or uncertain race and ethnicity.
Expanded carrier screening is nondirective and takes ethnic background out of the equation. ACOG has moved from advocating ethnic-based screening alone to advising that both ethnic and expanded carrier screening are acceptable strategies and that practices should choose a standard approach to offer and discuss with each patient. (Carrier screening for cystic fibrosis and spinal muscular atrophy are recommended for all patients regardless of ethnicity.)
In any scenario, screening is optimally performed after counseling and prior to pregnancy when patients can fully consider their reproductive options; couples identified to be at 25% risk to have a child with a genetic condition may choose to pursue in-vitro fertilization and preimplantation genetic testing of embryos.
The expanded carrier screening panels offered by laboratories include as many as several hundred conditions, so careful scrutiny of included diseases and selection of a panel is important. We currently use an expanded panel that is restricted to conditions that limit life expectancy, have no treatment, have treatment that is most beneficial when started early, or are associated with intellectual disability.
Some panels look for mutations in genes that are quite common and often benign. Such is the case with the MTHFR gene: 40% of individuals in some populations are carriers, and offspring who inherit mutations in both gene copies are unlikely to have any medical issues at all. Yet, the lay information available on this gene can be confusing and even scary.
Laboratory methodologies should similarly be well understood. Many labs look only for a handful of common mutations in a gene, while others sequence or “read” the entire gene, looking for errors. The latter is more informative, but not all labs that purport to sequence the entire gene are actually doing so.
Patients should understand that, while a negative result significantly reduces their chance of being a carrier for a condition, it does not eliminate the risk. They should also understand that, if their partner is not available for testing or is unwilling to be tested, we will not be able to refine the risk to the pregnancy in the event they are found to be a carrier.
Noninvasive prenatal screening
Cell-free DNA testing, or noninvasive prenatal testing (NIPT), is a powerful noninvasive screening technology for aneuploidy that analyzes fetal DNA floating freely in maternal blood starting at about 9-10 weeks of pregnancy. However, it is not a substitute for invasive testing and is not diagnostic.
Patients we see are commonly misinformed that a negative cell-free DNA testing result means their baby is without doubt unaffected by a chromosomal abnormality. NIPT is the most sensitive and specific screening test for the common fetal aneuploidies (trisomies 13, 18, and 21), with a significantly better positive predictive value than previous noninvasive chromosome screening. However, NIPT findings still include false-negative results and some false-positive results. Patients must be counseled that NIPT does not offer absolute findings.
Laboratories are adding screening tests for additional aneuploidies, microdeletions, and other disorders and variants. However, as ACOG and other professional colleges advise, the reliability of these tests (e.g.. their screening accuracy with respect to detection and false-positive rates) is not yet established, and these newer tests are not ready for routine adoption in practice.
Microarray analysis, variants of unknown significance (VUS)
Chromosomal microarray analysis of DNA from a chorionic villus sampling or amniocentesis specimen enables prenatal detection of exceptionally small genomic deletions and duplications – tiny chunks of DNA – that cannot be seen with standard karyotype testing.
That microdeletions and microduplications can produce abnormalities and conditions that can be significantly more severe than the absence or addition of entire chromosomes is not necessarily intuitive. It is as if the entire plot of a book is revealed in just one page.
For instance, Turner syndrome results when one of the X chromosomes is entirely missing. (Occasionally, there is a large, partial absence.) The absence can cause a variety of symptoms, including failure of the ovaries to develop and heart defects, but most affected individuals can lead healthy and independent lives with the only features being short stature and a wide neck.
Angelman syndrome, in contrast, is most often caused by a microdeletion of genetic material from chromosome 15 – a tiny snip of the chromosome – but results in ataxia, severe intellectual disability, lifelong seizures, and severe lifelong speech impairment.
In our program, we counsel patients before testing that results may come back one of three ways: completely normal, definitely abnormal, or with a VUS.
A VUS is a challenging finding because it represents a loss or gain of a small portion of a chromosome with unclear clinical significance. In some cases, the uncertainty stems from the microdeletion or duplication not having been seen before — or not seen enough to be accurately characterized as benign or pathogenic. In other cases, the uncertainty stems from an associated phenotype that is highly variable. Either way, a VUS often makes the investigation for genetic conditions and subsequent decision-making more difficult, and a genetic counselor’s expertise and guidance is needed.
Advances in imaging, panel testing
The most significant addition to the first-trimester ultrasound evaluation in recent years has been the systematic assessment of the fetal circulation and the structure of the fetal heart, with early detection of the most common forms of birth defects.
Structural assessment of the central nervous system, abdomen, and skeleton is also now possible during the first-trimester ultrasound and offers the opportunity for early genetic assessment when anomalies are detected.
Ultrasound imaging in the second and third trimesters can help refine the diagnosis of birth defects, track the evolution of suspicious findings from the first trimester, or uncover anomalies that did not present earlier. Findings may be suggestive of underlying genetic conditions and drive the use of “panel” tests, or targeted sequencing panels, to help make a diagnosis.
Features of skeletal dysplasia, for instance, would lead the genetic counselor to recommend a panel of tests that target skeletal dysplasia-associated genes, looking for genetic mutations. Similarly, holoprosencephaly detected on ultrasound could prompt use of a customized gene panel to look for mutations in a series of different genes known to cause the anomaly.
Second trimester details that may guide genetic investigation are not limited to ultrasound. In certain instances, MRI has the unique capability to diagnose particular structural defects, especially brain anomalies with developmental specificity.
Commentary by Christopher R. Harman, MD
Genetic counseling is now a mandatory part of all pregnancy evaluation programs. Counselors not only explain and interpret tests and results to families but also, increasingly, guide the efforts of the obstetrics team, including the maternal-fetal medicine specialist.
The genetic counselor helps design screening for the whole patient population and focuses diagnostic testing in specific cases of screening concerns, family history, chromosomal abnormalities in prior pregnancies, and fetal abnormalities detected through ultrasonography or other prenatal surveillance. They also serve as a crucial link between the physician and the family.
The counselor also has a key role in the case of a stillbirth or other adverse pregnancy outcome in investigating possible genetic elements and working with the family on evaluation of recurrence risk and prevention of a similar outcome in future pregnancies. The details of poor outcomes hold the potential for making the next pregnancy successful.
Commentary by Amanda S. Higgs, MGC
Even in 2021, there is no “perfect baby test.” Patients can have expanded carrier screening, cell-free DNA testing, invasive testing with microarray, and all of the available imaging, with normal results, and still have a baby with a genetic disorder. Understanding the concept of residual risk is important. So is appreciation for the possibility that incidental findings – information not sought – can occur even with specific genetic testing.
Genetic counselors are there to help patients understand and assimilate information, usher them through the screening and testing process, and facilitate informed decision-making. We are nondirective in our counseling. We try to assess their values, their support systems, and their experience with disability and help them to make the best decisions for themselves regarding testing and further evaluation, as well as other reproductive decisions.
[email protected]
Preconception and prenatal genetic screening and diagnostic testing for genetic disorders are increasingly complex, with a burgeoning number of testing options and a shift in screening from situations identified as high-risk to more universal considerations. The American College of Obstetricians and Gynecologists now recommends that all patients – regardless of age or risk for chromosomal abnormalities – be offered both screening and diagnostic tests and counseled about the relative benefits and limitations of available tests. These recommendations represent a sea change for obstetrics.
Screening options now include expanded carrier screening that evaluates an individual’s carrier status for multiple conditions at once, regardless of ethnicity, and cell-free DNA screening using fetal DNA found in the maternal circulation. Chromosomal microarray analysis from a chorionic villus sampling or amniocentesis specimen detects tiny copy number variants, and increasingly detailed ultrasound images illuminate anatomic and physiologic anomalies that could not be seen or interpreted as recently as 5 years ago.
These advancements are remarkable, but they require attentive, personalized pre- and posttest genetic counseling. Genetic counselors are critical to this process, helping women and families understand and select screening tools, interpret test results, select diagnostic panels, and make decisions about invasive testing.
Counseling is essential as we seek and utilize genetic information that is no longer binary. It used to be that predictions of normality and abnormality were made with little gray area in between. – and genetic diagnosis is increasingly a lattice of details, variable expression, and even effects timing.
Expanded carrier screening
Carrier screening to determine if one or both parents are carriers for an autosomal recessive condition has historically involved a limited number of conditions chosen based on ethnicity. However, research has demonstrated the unreliability of this approach in our multicultural, multiracial society, in which many of our patients have mixed or uncertain race and ethnicity.
Expanded carrier screening is nondirective and takes ethnic background out of the equation. ACOG has moved from advocating ethnic-based screening alone to advising that both ethnic and expanded carrier screening are acceptable strategies and that practices should choose a standard approach to offer and discuss with each patient. (Carrier screening for cystic fibrosis and spinal muscular atrophy are recommended for all patients regardless of ethnicity.)
In any scenario, screening is optimally performed after counseling and prior to pregnancy when patients can fully consider their reproductive options; couples identified to be at 25% risk to have a child with a genetic condition may choose to pursue in-vitro fertilization and preimplantation genetic testing of embryos.
The expanded carrier screening panels offered by laboratories include as many as several hundred conditions, so careful scrutiny of included diseases and selection of a panel is important. We currently use an expanded panel that is restricted to conditions that limit life expectancy, have no treatment, have treatment that is most beneficial when started early, or are associated with intellectual disability.
Some panels look for mutations in genes that are quite common and often benign. Such is the case with the MTHFR gene: 40% of individuals in some populations are carriers, and offspring who inherit mutations in both gene copies are unlikely to have any medical issues at all. Yet, the lay information available on this gene can be confusing and even scary.
Laboratory methodologies should similarly be well understood. Many labs look only for a handful of common mutations in a gene, while others sequence or “read” the entire gene, looking for errors. The latter is more informative, but not all labs that purport to sequence the entire gene are actually doing so.
Patients should understand that, while a negative result significantly reduces their chance of being a carrier for a condition, it does not eliminate the risk. They should also understand that, if their partner is not available for testing or is unwilling to be tested, we will not be able to refine the risk to the pregnancy in the event they are found to be a carrier.
Noninvasive prenatal screening
Cell-free DNA testing, or noninvasive prenatal testing (NIPT), is a powerful noninvasive screening technology for aneuploidy that analyzes fetal DNA floating freely in maternal blood starting at about 9-10 weeks of pregnancy. However, it is not a substitute for invasive testing and is not diagnostic.
Patients we see are commonly misinformed that a negative cell-free DNA testing result means their baby is without doubt unaffected by a chromosomal abnormality. NIPT is the most sensitive and specific screening test for the common fetal aneuploidies (trisomies 13, 18, and 21), with a significantly better positive predictive value than previous noninvasive chromosome screening. However, NIPT findings still include false-negative results and some false-positive results. Patients must be counseled that NIPT does not offer absolute findings.
Laboratories are adding screening tests for additional aneuploidies, microdeletions, and other disorders and variants. However, as ACOG and other professional colleges advise, the reliability of these tests (e.g.. their screening accuracy with respect to detection and false-positive rates) is not yet established, and these newer tests are not ready for routine adoption in practice.
Microarray analysis, variants of unknown significance (VUS)
Chromosomal microarray analysis of DNA from a chorionic villus sampling or amniocentesis specimen enables prenatal detection of exceptionally small genomic deletions and duplications – tiny chunks of DNA – that cannot be seen with standard karyotype testing.
That microdeletions and microduplications can produce abnormalities and conditions that can be significantly more severe than the absence or addition of entire chromosomes is not necessarily intuitive. It is as if the entire plot of a book is revealed in just one page.
For instance, Turner syndrome results when one of the X chromosomes is entirely missing. (Occasionally, there is a large, partial absence.) The absence can cause a variety of symptoms, including failure of the ovaries to develop and heart defects, but most affected individuals can lead healthy and independent lives with the only features being short stature and a wide neck.
Angelman syndrome, in contrast, is most often caused by a microdeletion of genetic material from chromosome 15 – a tiny snip of the chromosome – but results in ataxia, severe intellectual disability, lifelong seizures, and severe lifelong speech impairment.
In our program, we counsel patients before testing that results may come back one of three ways: completely normal, definitely abnormal, or with a VUS.
A VUS is a challenging finding because it represents a loss or gain of a small portion of a chromosome with unclear clinical significance. In some cases, the uncertainty stems from the microdeletion or duplication not having been seen before — or not seen enough to be accurately characterized as benign or pathogenic. In other cases, the uncertainty stems from an associated phenotype that is highly variable. Either way, a VUS often makes the investigation for genetic conditions and subsequent decision-making more difficult, and a genetic counselor’s expertise and guidance is needed.
Advances in imaging, panel testing
The most significant addition to the first-trimester ultrasound evaluation in recent years has been the systematic assessment of the fetal circulation and the structure of the fetal heart, with early detection of the most common forms of birth defects.
Structural assessment of the central nervous system, abdomen, and skeleton is also now possible during the first-trimester ultrasound and offers the opportunity for early genetic assessment when anomalies are detected.
Ultrasound imaging in the second and third trimesters can help refine the diagnosis of birth defects, track the evolution of suspicious findings from the first trimester, or uncover anomalies that did not present earlier. Findings may be suggestive of underlying genetic conditions and drive the use of “panel” tests, or targeted sequencing panels, to help make a diagnosis.
Features of skeletal dysplasia, for instance, would lead the genetic counselor to recommend a panel of tests that target skeletal dysplasia-associated genes, looking for genetic mutations. Similarly, holoprosencephaly detected on ultrasound could prompt use of a customized gene panel to look for mutations in a series of different genes known to cause the anomaly.
Second trimester details that may guide genetic investigation are not limited to ultrasound. In certain instances, MRI has the unique capability to diagnose particular structural defects, especially brain anomalies with developmental specificity.
Commentary by Christopher R. Harman, MD
Genetic counseling is now a mandatory part of all pregnancy evaluation programs. Counselors not only explain and interpret tests and results to families but also, increasingly, guide the efforts of the obstetrics team, including the maternal-fetal medicine specialist.
The genetic counselor helps design screening for the whole patient population and focuses diagnostic testing in specific cases of screening concerns, family history, chromosomal abnormalities in prior pregnancies, and fetal abnormalities detected through ultrasonography or other prenatal surveillance. They also serve as a crucial link between the physician and the family.
The counselor also has a key role in the case of a stillbirth or other adverse pregnancy outcome in investigating possible genetic elements and working with the family on evaluation of recurrence risk and prevention of a similar outcome in future pregnancies. The details of poor outcomes hold the potential for making the next pregnancy successful.
Commentary by Amanda S. Higgs, MGC
Even in 2021, there is no “perfect baby test.” Patients can have expanded carrier screening, cell-free DNA testing, invasive testing with microarray, and all of the available imaging, with normal results, and still have a baby with a genetic disorder. Understanding the concept of residual risk is important. So is appreciation for the possibility that incidental findings – information not sought – can occur even with specific genetic testing.
Genetic counselors are there to help patients understand and assimilate information, usher them through the screening and testing process, and facilitate informed decision-making. We are nondirective in our counseling. We try to assess their values, their support systems, and their experience with disability and help them to make the best decisions for themselves regarding testing and further evaluation, as well as other reproductive decisions.
[email protected]
Preconception and prenatal genetic screening and diagnostic testing for genetic disorders are increasingly complex, with a burgeoning number of testing options and a shift in screening from situations identified as high-risk to more universal considerations. The American College of Obstetricians and Gynecologists now recommends that all patients – regardless of age or risk for chromosomal abnormalities – be offered both screening and diagnostic tests and counseled about the relative benefits and limitations of available tests. These recommendations represent a sea change for obstetrics.
Screening options now include expanded carrier screening that evaluates an individual’s carrier status for multiple conditions at once, regardless of ethnicity, and cell-free DNA screening using fetal DNA found in the maternal circulation. Chromosomal microarray analysis from a chorionic villus sampling or amniocentesis specimen detects tiny copy number variants, and increasingly detailed ultrasound images illuminate anatomic and physiologic anomalies that could not be seen or interpreted as recently as 5 years ago.
These advancements are remarkable, but they require attentive, personalized pre- and posttest genetic counseling. Genetic counselors are critical to this process, helping women and families understand and select screening tools, interpret test results, select diagnostic panels, and make decisions about invasive testing.
Counseling is essential as we seek and utilize genetic information that is no longer binary. It used to be that predictions of normality and abnormality were made with little gray area in between. – and genetic diagnosis is increasingly a lattice of details, variable expression, and even effects timing.
Expanded carrier screening
Carrier screening to determine if one or both parents are carriers for an autosomal recessive condition has historically involved a limited number of conditions chosen based on ethnicity. However, research has demonstrated the unreliability of this approach in our multicultural, multiracial society, in which many of our patients have mixed or uncertain race and ethnicity.
Expanded carrier screening is nondirective and takes ethnic background out of the equation. ACOG has moved from advocating ethnic-based screening alone to advising that both ethnic and expanded carrier screening are acceptable strategies and that practices should choose a standard approach to offer and discuss with each patient. (Carrier screening for cystic fibrosis and spinal muscular atrophy are recommended for all patients regardless of ethnicity.)
In any scenario, screening is optimally performed after counseling and prior to pregnancy when patients can fully consider their reproductive options; couples identified to be at 25% risk to have a child with a genetic condition may choose to pursue in-vitro fertilization and preimplantation genetic testing of embryos.
The expanded carrier screening panels offered by laboratories include as many as several hundred conditions, so careful scrutiny of included diseases and selection of a panel is important. We currently use an expanded panel that is restricted to conditions that limit life expectancy, have no treatment, have treatment that is most beneficial when started early, or are associated with intellectual disability.
Some panels look for mutations in genes that are quite common and often benign. Such is the case with the MTHFR gene: 40% of individuals in some populations are carriers, and offspring who inherit mutations in both gene copies are unlikely to have any medical issues at all. Yet, the lay information available on this gene can be confusing and even scary.
Laboratory methodologies should similarly be well understood. Many labs look only for a handful of common mutations in a gene, while others sequence or “read” the entire gene, looking for errors. The latter is more informative, but not all labs that purport to sequence the entire gene are actually doing so.
Patients should understand that, while a negative result significantly reduces their chance of being a carrier for a condition, it does not eliminate the risk. They should also understand that, if their partner is not available for testing or is unwilling to be tested, we will not be able to refine the risk to the pregnancy in the event they are found to be a carrier.
Noninvasive prenatal screening
Cell-free DNA testing, or noninvasive prenatal testing (NIPT), is a powerful noninvasive screening technology for aneuploidy that analyzes fetal DNA floating freely in maternal blood starting at about 9-10 weeks of pregnancy. However, it is not a substitute for invasive testing and is not diagnostic.
Patients we see are commonly misinformed that a negative cell-free DNA testing result means their baby is without doubt unaffected by a chromosomal abnormality. NIPT is the most sensitive and specific screening test for the common fetal aneuploidies (trisomies 13, 18, and 21), with a significantly better positive predictive value than previous noninvasive chromosome screening. However, NIPT findings still include false-negative results and some false-positive results. Patients must be counseled that NIPT does not offer absolute findings.
Laboratories are adding screening tests for additional aneuploidies, microdeletions, and other disorders and variants. However, as ACOG and other professional colleges advise, the reliability of these tests (e.g.. their screening accuracy with respect to detection and false-positive rates) is not yet established, and these newer tests are not ready for routine adoption in practice.
Microarray analysis, variants of unknown significance (VUS)
Chromosomal microarray analysis of DNA from a chorionic villus sampling or amniocentesis specimen enables prenatal detection of exceptionally small genomic deletions and duplications – tiny chunks of DNA – that cannot be seen with standard karyotype testing.
That microdeletions and microduplications can produce abnormalities and conditions that can be significantly more severe than the absence or addition of entire chromosomes is not necessarily intuitive. It is as if the entire plot of a book is revealed in just one page.
For instance, Turner syndrome results when one of the X chromosomes is entirely missing. (Occasionally, there is a large, partial absence.) The absence can cause a variety of symptoms, including failure of the ovaries to develop and heart defects, but most affected individuals can lead healthy and independent lives with the only features being short stature and a wide neck.
Angelman syndrome, in contrast, is most often caused by a microdeletion of genetic material from chromosome 15 – a tiny snip of the chromosome – but results in ataxia, severe intellectual disability, lifelong seizures, and severe lifelong speech impairment.
In our program, we counsel patients before testing that results may come back one of three ways: completely normal, definitely abnormal, or with a VUS.
A VUS is a challenging finding because it represents a loss or gain of a small portion of a chromosome with unclear clinical significance. In some cases, the uncertainty stems from the microdeletion or duplication not having been seen before — or not seen enough to be accurately characterized as benign or pathogenic. In other cases, the uncertainty stems from an associated phenotype that is highly variable. Either way, a VUS often makes the investigation for genetic conditions and subsequent decision-making more difficult, and a genetic counselor’s expertise and guidance is needed.
Advances in imaging, panel testing
The most significant addition to the first-trimester ultrasound evaluation in recent years has been the systematic assessment of the fetal circulation and the structure of the fetal heart, with early detection of the most common forms of birth defects.
Structural assessment of the central nervous system, abdomen, and skeleton is also now possible during the first-trimester ultrasound and offers the opportunity for early genetic assessment when anomalies are detected.
Ultrasound imaging in the second and third trimesters can help refine the diagnosis of birth defects, track the evolution of suspicious findings from the first trimester, or uncover anomalies that did not present earlier. Findings may be suggestive of underlying genetic conditions and drive the use of “panel” tests, or targeted sequencing panels, to help make a diagnosis.
Features of skeletal dysplasia, for instance, would lead the genetic counselor to recommend a panel of tests that target skeletal dysplasia-associated genes, looking for genetic mutations. Similarly, holoprosencephaly detected on ultrasound could prompt use of a customized gene panel to look for mutations in a series of different genes known to cause the anomaly.
Second trimester details that may guide genetic investigation are not limited to ultrasound. In certain instances, MRI has the unique capability to diagnose particular structural defects, especially brain anomalies with developmental specificity.
Commentary by Christopher R. Harman, MD
Genetic counseling is now a mandatory part of all pregnancy evaluation programs. Counselors not only explain and interpret tests and results to families but also, increasingly, guide the efforts of the obstetrics team, including the maternal-fetal medicine specialist.
The genetic counselor helps design screening for the whole patient population and focuses diagnostic testing in specific cases of screening concerns, family history, chromosomal abnormalities in prior pregnancies, and fetal abnormalities detected through ultrasonography or other prenatal surveillance. They also serve as a crucial link between the physician and the family.
The counselor also has a key role in the case of a stillbirth or other adverse pregnancy outcome in investigating possible genetic elements and working with the family on evaluation of recurrence risk and prevention of a similar outcome in future pregnancies. The details of poor outcomes hold the potential for making the next pregnancy successful.
Commentary by Amanda S. Higgs, MGC
Even in 2021, there is no “perfect baby test.” Patients can have expanded carrier screening, cell-free DNA testing, invasive testing with microarray, and all of the available imaging, with normal results, and still have a baby with a genetic disorder. Understanding the concept of residual risk is important. So is appreciation for the possibility that incidental findings – information not sought – can occur even with specific genetic testing.
Genetic counselors are there to help patients understand and assimilate information, usher them through the screening and testing process, and facilitate informed decision-making. We are nondirective in our counseling. We try to assess their values, their support systems, and their experience with disability and help them to make the best decisions for themselves regarding testing and further evaluation, as well as other reproductive decisions.
[email protected]
Cervical cancer rates fall, but other HPV cancers increase
Cervical cancer incidence in the United States decreased by about 1% per year from 2001 to 2017, but at the same time there was an increase in the incidence of other human papillomavirus (HPV)–related cancers, a new study reveals.
Over the same period, there was an overall 1.3% annual increase in oropharyngeal, anal, rectal, and vulvar cancers in women, and a 2.3% annual increase in these cancers in men.
HPV is associated with more than 90% of cervical cancers and between 60% and 75% of oropharyngeal, vulvar, vaginal, and penile cancer in the United States, the researchers noted.
Oropharyngeal cancer incidence increased by 2.3% overall, with a 2.7% increase in men and a 0.77% increase in women. The incidence of this cancer was nearly fivefold greater in men at 8.89 per 100,000 population versus 1.68 per 100,000 population for women, the study found.
In addition, among women over age 50 years, anal and rectal cancer incidence increased by 3.5% per year; at the same time, cervical cancer incidence decreased 1.5% per year.
The increase in the incidence of oropharyngeal cancer and in anal and rectal cancers is expected to continue, the authors said.
The data showing these new trends come from an analysis of 657,317 individuals obtained from the U.S. Cancer Statistics program, conducted by Cheng-I Liao, MD, of Kaohsiung (Taiwan) Veterans Hospital and colleagues.
The study was highlighted at a press briefing ahead of the annual meeting of the American Society of Clinical Oncology, where the study will be presented June 6.
These incidence trends may reflect the availability of clear guidelines for screening and vaccination for the prevention of HPV-related cervical cancer – and the dearth of guidelines and standardized screening and vaccination for the other HPV-related cancers, the authors said.
The team also found cervical cancer accounted for 52% of all HPV-related cancers during the study period. The decrease in the incidence of cervical cancer over time was greater among women aged 20-24 (4.6% per year), compared with those aged 25-29 years (1.6%) and 30-34 years (1.1%),
Dr. Liao speculated that this age-based difference suggests a potential effect of HPV vaccination, greater vaccine acceptance among younger women, and clear guidelines for screening and vaccination.
However, an expert approached for comment was not so sure. It is likely too soon to give HPV vaccination too much credit for lower cervical cancer rates, said Jennifer Young Pierce, MD, MPH, a gynecologic oncologist at the Mitchell Cancer Institute, University of South Alabama, Mobile.
The continued rise in HPV-related cancers other than cervical cancers supports the point that screening – rather than vaccination – accounts for much of the decline observed in cervical cancer incidence, Dr. Pierce said in an interview.
Vaccination in men lags behind that of women, and there is a lack of good screening methods for head and neck cancers, she explained.
“When we have both vaccination and screening in these other cancers at high rates, we’re going to see significant declines in those cancers also,” she said.
“I’m very excited by the data but I do not believe it is related to vaccination as a method of prevention,” said Dr. Pierce, a professor of interdisciplinary clinical oncology who has been involved in numerous HPV vaccine–related studies and initiatives to improve vaccine uptake since its approval in 2006.
HPV vaccination
The HPV vaccine was first approved for preventing HPV-related cervical cancer in 2006 with an indication for girls and women aged 9-26 years. The vaccine indication was expanded in 2011 to include boys aged 11-12 years and is now approved for those up to age 45 years.
However, neither standardized screening nor HPV vaccination is currently recommended for any HPV-related cancer other than cervical cancer, Dr. Liao said.
Vaccination during much of the current study time frame (2001-2017) didn’t apply to most of the people who got cancer, Dr. Pierce explained in an interview, noting that the vaccinated individuals “still aren’t old enough to be part of the group we’re talking about.”
Rather, the increased use of HPV screening along with Pap testing for cervical cancer was becoming much more widespread at the time and was likely picking up more precancerous lesions – and thereby helping to decrease cervical cancer incidence in women in their 40s, 50s, 60s, and 70s, she said.
Dr. Pierce does, however, credit the vaccine movement for improving awareness of HPV risk.
“It has done a great job of educating the population about the dangers of these cancers ... and that there’s more we can do to prevent them,” she said.
Like Dr. Liao, she stressed the need for research focused on finding more effective screening modalities and on vaccine efficacy.
Also commenting on the study, ASCO president Lori J. Pierce, MD, a radiation oncologist, professor, and vice provost for academic and faculty affairs at the University of Michigan, Ann Arbor, said the findings underscore the need for ongoing exploration of potential strategies such as HPV screening for high-risk populations.
“We can pick out higher risk populations so it would make sense to do a screen,” she said.
“Clearly, this study shows that we still have a great deal of work to do in order to reverse the increasing incidence rates of other HPV-related cancers,” she added in a press statement.
In an interview prior to the press conference, Dr. Pierce said in an interview that the findings are important because the outcome “opens all of our eyes into the trends of HPV-related cancers in the United States.
“This is something that hasn’t been studied well over time,” she added, noting that, where guidelines do exist for HPV-related cancers other than cervical cancer, they are inconsistent.
Further, it is possible that the vaccine will “cover a significant portion of the etiologic viruses that cause these cancers,” thereby helping to prevent the other HPV-related cancers.
For that reason, additional research and strategies for overcoming vaccine hesitancy, increasing overall vaccination rates, and for developing consistent guidelines are needed.
“I think there needs to be further resources and research to address the lack of screening for these other HPV-related cancers and we need to have consistent vaccination guidelines, because these cancers are preventable,” she said
Dr. Liao and Dr. Pierce disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Cervical cancer incidence in the United States decreased by about 1% per year from 2001 to 2017, but at the same time there was an increase in the incidence of other human papillomavirus (HPV)–related cancers, a new study reveals.
Over the same period, there was an overall 1.3% annual increase in oropharyngeal, anal, rectal, and vulvar cancers in women, and a 2.3% annual increase in these cancers in men.
HPV is associated with more than 90% of cervical cancers and between 60% and 75% of oropharyngeal, vulvar, vaginal, and penile cancer in the United States, the researchers noted.
Oropharyngeal cancer incidence increased by 2.3% overall, with a 2.7% increase in men and a 0.77% increase in women. The incidence of this cancer was nearly fivefold greater in men at 8.89 per 100,000 population versus 1.68 per 100,000 population for women, the study found.
In addition, among women over age 50 years, anal and rectal cancer incidence increased by 3.5% per year; at the same time, cervical cancer incidence decreased 1.5% per year.
The increase in the incidence of oropharyngeal cancer and in anal and rectal cancers is expected to continue, the authors said.
The data showing these new trends come from an analysis of 657,317 individuals obtained from the U.S. Cancer Statistics program, conducted by Cheng-I Liao, MD, of Kaohsiung (Taiwan) Veterans Hospital and colleagues.
The study was highlighted at a press briefing ahead of the annual meeting of the American Society of Clinical Oncology, where the study will be presented June 6.
These incidence trends may reflect the availability of clear guidelines for screening and vaccination for the prevention of HPV-related cervical cancer – and the dearth of guidelines and standardized screening and vaccination for the other HPV-related cancers, the authors said.
The team also found cervical cancer accounted for 52% of all HPV-related cancers during the study period. The decrease in the incidence of cervical cancer over time was greater among women aged 20-24 (4.6% per year), compared with those aged 25-29 years (1.6%) and 30-34 years (1.1%),
Dr. Liao speculated that this age-based difference suggests a potential effect of HPV vaccination, greater vaccine acceptance among younger women, and clear guidelines for screening and vaccination.
However, an expert approached for comment was not so sure. It is likely too soon to give HPV vaccination too much credit for lower cervical cancer rates, said Jennifer Young Pierce, MD, MPH, a gynecologic oncologist at the Mitchell Cancer Institute, University of South Alabama, Mobile.
The continued rise in HPV-related cancers other than cervical cancers supports the point that screening – rather than vaccination – accounts for much of the decline observed in cervical cancer incidence, Dr. Pierce said in an interview.
Vaccination in men lags behind that of women, and there is a lack of good screening methods for head and neck cancers, she explained.
“When we have both vaccination and screening in these other cancers at high rates, we’re going to see significant declines in those cancers also,” she said.
“I’m very excited by the data but I do not believe it is related to vaccination as a method of prevention,” said Dr. Pierce, a professor of interdisciplinary clinical oncology who has been involved in numerous HPV vaccine–related studies and initiatives to improve vaccine uptake since its approval in 2006.
HPV vaccination
The HPV vaccine was first approved for preventing HPV-related cervical cancer in 2006 with an indication for girls and women aged 9-26 years. The vaccine indication was expanded in 2011 to include boys aged 11-12 years and is now approved for those up to age 45 years.
However, neither standardized screening nor HPV vaccination is currently recommended for any HPV-related cancer other than cervical cancer, Dr. Liao said.
Vaccination during much of the current study time frame (2001-2017) didn’t apply to most of the people who got cancer, Dr. Pierce explained in an interview, noting that the vaccinated individuals “still aren’t old enough to be part of the group we’re talking about.”
Rather, the increased use of HPV screening along with Pap testing for cervical cancer was becoming much more widespread at the time and was likely picking up more precancerous lesions – and thereby helping to decrease cervical cancer incidence in women in their 40s, 50s, 60s, and 70s, she said.
Dr. Pierce does, however, credit the vaccine movement for improving awareness of HPV risk.
“It has done a great job of educating the population about the dangers of these cancers ... and that there’s more we can do to prevent them,” she said.
Like Dr. Liao, she stressed the need for research focused on finding more effective screening modalities and on vaccine efficacy.
Also commenting on the study, ASCO president Lori J. Pierce, MD, a radiation oncologist, professor, and vice provost for academic and faculty affairs at the University of Michigan, Ann Arbor, said the findings underscore the need for ongoing exploration of potential strategies such as HPV screening for high-risk populations.
“We can pick out higher risk populations so it would make sense to do a screen,” she said.
“Clearly, this study shows that we still have a great deal of work to do in order to reverse the increasing incidence rates of other HPV-related cancers,” she added in a press statement.
In an interview prior to the press conference, Dr. Pierce said in an interview that the findings are important because the outcome “opens all of our eyes into the trends of HPV-related cancers in the United States.
“This is something that hasn’t been studied well over time,” she added, noting that, where guidelines do exist for HPV-related cancers other than cervical cancer, they are inconsistent.
Further, it is possible that the vaccine will “cover a significant portion of the etiologic viruses that cause these cancers,” thereby helping to prevent the other HPV-related cancers.
For that reason, additional research and strategies for overcoming vaccine hesitancy, increasing overall vaccination rates, and for developing consistent guidelines are needed.
“I think there needs to be further resources and research to address the lack of screening for these other HPV-related cancers and we need to have consistent vaccination guidelines, because these cancers are preventable,” she said
Dr. Liao and Dr. Pierce disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Cervical cancer incidence in the United States decreased by about 1% per year from 2001 to 2017, but at the same time there was an increase in the incidence of other human papillomavirus (HPV)–related cancers, a new study reveals.
Over the same period, there was an overall 1.3% annual increase in oropharyngeal, anal, rectal, and vulvar cancers in women, and a 2.3% annual increase in these cancers in men.
HPV is associated with more than 90% of cervical cancers and between 60% and 75% of oropharyngeal, vulvar, vaginal, and penile cancer in the United States, the researchers noted.
Oropharyngeal cancer incidence increased by 2.3% overall, with a 2.7% increase in men and a 0.77% increase in women. The incidence of this cancer was nearly fivefold greater in men at 8.89 per 100,000 population versus 1.68 per 100,000 population for women, the study found.
In addition, among women over age 50 years, anal and rectal cancer incidence increased by 3.5% per year; at the same time, cervical cancer incidence decreased 1.5% per year.
The increase in the incidence of oropharyngeal cancer and in anal and rectal cancers is expected to continue, the authors said.
The data showing these new trends come from an analysis of 657,317 individuals obtained from the U.S. Cancer Statistics program, conducted by Cheng-I Liao, MD, of Kaohsiung (Taiwan) Veterans Hospital and colleagues.
The study was highlighted at a press briefing ahead of the annual meeting of the American Society of Clinical Oncology, where the study will be presented June 6.
These incidence trends may reflect the availability of clear guidelines for screening and vaccination for the prevention of HPV-related cervical cancer – and the dearth of guidelines and standardized screening and vaccination for the other HPV-related cancers, the authors said.
The team also found cervical cancer accounted for 52% of all HPV-related cancers during the study period. The decrease in the incidence of cervical cancer over time was greater among women aged 20-24 (4.6% per year), compared with those aged 25-29 years (1.6%) and 30-34 years (1.1%),
Dr. Liao speculated that this age-based difference suggests a potential effect of HPV vaccination, greater vaccine acceptance among younger women, and clear guidelines for screening and vaccination.
However, an expert approached for comment was not so sure. It is likely too soon to give HPV vaccination too much credit for lower cervical cancer rates, said Jennifer Young Pierce, MD, MPH, a gynecologic oncologist at the Mitchell Cancer Institute, University of South Alabama, Mobile.
The continued rise in HPV-related cancers other than cervical cancers supports the point that screening – rather than vaccination – accounts for much of the decline observed in cervical cancer incidence, Dr. Pierce said in an interview.
Vaccination in men lags behind that of women, and there is a lack of good screening methods for head and neck cancers, she explained.
“When we have both vaccination and screening in these other cancers at high rates, we’re going to see significant declines in those cancers also,” she said.
“I’m very excited by the data but I do not believe it is related to vaccination as a method of prevention,” said Dr. Pierce, a professor of interdisciplinary clinical oncology who has been involved in numerous HPV vaccine–related studies and initiatives to improve vaccine uptake since its approval in 2006.
HPV vaccination
The HPV vaccine was first approved for preventing HPV-related cervical cancer in 2006 with an indication for girls and women aged 9-26 years. The vaccine indication was expanded in 2011 to include boys aged 11-12 years and is now approved for those up to age 45 years.
However, neither standardized screening nor HPV vaccination is currently recommended for any HPV-related cancer other than cervical cancer, Dr. Liao said.
Vaccination during much of the current study time frame (2001-2017) didn’t apply to most of the people who got cancer, Dr. Pierce explained in an interview, noting that the vaccinated individuals “still aren’t old enough to be part of the group we’re talking about.”
Rather, the increased use of HPV screening along with Pap testing for cervical cancer was becoming much more widespread at the time and was likely picking up more precancerous lesions – and thereby helping to decrease cervical cancer incidence in women in their 40s, 50s, 60s, and 70s, she said.
Dr. Pierce does, however, credit the vaccine movement for improving awareness of HPV risk.
“It has done a great job of educating the population about the dangers of these cancers ... and that there’s more we can do to prevent them,” she said.
Like Dr. Liao, she stressed the need for research focused on finding more effective screening modalities and on vaccine efficacy.
Also commenting on the study, ASCO president Lori J. Pierce, MD, a radiation oncologist, professor, and vice provost for academic and faculty affairs at the University of Michigan, Ann Arbor, said the findings underscore the need for ongoing exploration of potential strategies such as HPV screening for high-risk populations.
“We can pick out higher risk populations so it would make sense to do a screen,” she said.
“Clearly, this study shows that we still have a great deal of work to do in order to reverse the increasing incidence rates of other HPV-related cancers,” she added in a press statement.
In an interview prior to the press conference, Dr. Pierce said in an interview that the findings are important because the outcome “opens all of our eyes into the trends of HPV-related cancers in the United States.
“This is something that hasn’t been studied well over time,” she added, noting that, where guidelines do exist for HPV-related cancers other than cervical cancer, they are inconsistent.
Further, it is possible that the vaccine will “cover a significant portion of the etiologic viruses that cause these cancers,” thereby helping to prevent the other HPV-related cancers.
For that reason, additional research and strategies for overcoming vaccine hesitancy, increasing overall vaccination rates, and for developing consistent guidelines are needed.
“I think there needs to be further resources and research to address the lack of screening for these other HPV-related cancers and we need to have consistent vaccination guidelines, because these cancers are preventable,” she said
Dr. Liao and Dr. Pierce disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.
ID experts dole out practical advice to help with mask confusion
The Centers for Disease Control and Prevention’s latest guidance on what fully vaccinated people can do safely – including not socially distancing and not wearing a mask indoors or outdoors unless other regulations require it – has been widely misinterpreted and caused confusion, two infectious disease experts said at a briefing on May 20 hosted by the Infectious Diseases Society of America (IDSA).
The CDC did not ‘’lift” the mask mandate, but rather supplied guidance for those who are fully vaccinated. However, many questions and gray areas remain, and the experts addressed those. ‘’The CDC guidance is really directed at people who are fully vaccinated and who we know are likely to have a really solid response to the vaccine,” said Jeanne Marrazzo, MD, MPH, director of infectious diseases at the University of Alabama at Birmingham and an IDSA board member.
That message was largely lost, said Dr. Marrazzo and Jeffrey Duchin, MD, health officer of public health for Seattle and King County, Washington, and also an IDSA board member. Dr. Duchin said many people mistakenly regarded the new guidance as a message that the pandemic is over.
Among their practical tips on how to interpret the guidance:
To mask or not?
To make the decision, people need to think about not only the numbers of vaccinated versus unvaccinated individuals in their community but the local rates of disease, the experts said. And they need to know that the CDC guidance doesn’t apply if regulations by federal or state authorities or businesses and workplace are in conflict.
Deciding on mask use sometimes depends on where you are going. What about going into grocery stores or large bin stores without a mask? “If you are fully vaccinated and have no other conditions that compromise your immune system, and the rates of COVID are relatively low where you live, and the vaccination rates are high, I would be 100% fine” without a mask, Dr. Marrazzo said. But it’s important to think of all these factors in calculating your risk.
“I’m still wearing a mask when I go anywhere in public,” she said, citing vaccination rates that have not yet reached 50% in her area.
If that rate reached 80%, the typical percentage talked about for herd immunity, and new cases were low, Dr. Marrazzo said she might shed the mask.
The CDC also continues to recommend masks on mass transit for all.
One population that also must be considered, and who must evaluate their risk, even if vaccinated, are the immunocompromised, Dr. Marrazzo said. While people think of the immunocompromised as those with HIV or organ transplants, the numbers are actually much larger.
“A study a couple of years ago indicated up to 3% of Americans may actually have been told by their physician they have some of level of being immunocompromised,” she said. Among the examples are those who are on dialysis, on chemotherapy, or those taking any of the medications that modify the immune system.
“Millions of people fit this bill, and we have [very] little data on whether the vaccine works in them. We think it does,” Dr. Marrazzo said.
Still, she said, it’s a reason for these people to be cautious. For some other vaccines, the dose is modified for those who are immunocompromised. What’s not known yet is whether additional doses of the COVID vaccines might boost protection for those who are immunocompromised.
Many people, even after vaccination, may choose to keep wearing a mask especially in indoor, crowded settings, Dr. Duchin said. “We need to expect, accept, and respect continued mask wearing by anyone at any time.”
In most outdoor settings, he said, “I think masks are probably not necessary, vaccinated or not, regardless of age.” One exception: close face-to-face contact, such as in certain sports.
How to protect toddlers and infants
With masks not practical or recommended for infants and toddlers under 2 years old, Dr. Marrazzo said adults should remember that ‘’those very little kids don’t do poorly at all [even if infected], although there is not a ton of data.”
Adults should still treat young children as vulnerable, especially newborns. Adults not yet vaccinated should wear a mask when around them, she said.
J & J vaccine recipients
With less ‘’real world” data on the Johnson & Johnson vaccine, should those who got it think of themselves in a different risk group than those who got Moderna or Pfizer and adjust their behavior accordingly?
“The J&J vaccine, based on everything we know, does provide a great deal of protection,” Dr. Marrazzo said. ‘’We don’t know as much about prevention of transmission in the asymptomatic cases in the J&J.”
Most of that data, she said, is from the mRNA vaccines Pfizer and Moderna. “I think it’s an important area to study and learn about.” But all three vaccines, overall, provide a high level of protection, she said.
A version of this article first appeared on Medscape.com.
The Centers for Disease Control and Prevention’s latest guidance on what fully vaccinated people can do safely – including not socially distancing and not wearing a mask indoors or outdoors unless other regulations require it – has been widely misinterpreted and caused confusion, two infectious disease experts said at a briefing on May 20 hosted by the Infectious Diseases Society of America (IDSA).
The CDC did not ‘’lift” the mask mandate, but rather supplied guidance for those who are fully vaccinated. However, many questions and gray areas remain, and the experts addressed those. ‘’The CDC guidance is really directed at people who are fully vaccinated and who we know are likely to have a really solid response to the vaccine,” said Jeanne Marrazzo, MD, MPH, director of infectious diseases at the University of Alabama at Birmingham and an IDSA board member.
That message was largely lost, said Dr. Marrazzo and Jeffrey Duchin, MD, health officer of public health for Seattle and King County, Washington, and also an IDSA board member. Dr. Duchin said many people mistakenly regarded the new guidance as a message that the pandemic is over.
Among their practical tips on how to interpret the guidance:
To mask or not?
To make the decision, people need to think about not only the numbers of vaccinated versus unvaccinated individuals in their community but the local rates of disease, the experts said. And they need to know that the CDC guidance doesn’t apply if regulations by federal or state authorities or businesses and workplace are in conflict.
Deciding on mask use sometimes depends on where you are going. What about going into grocery stores or large bin stores without a mask? “If you are fully vaccinated and have no other conditions that compromise your immune system, and the rates of COVID are relatively low where you live, and the vaccination rates are high, I would be 100% fine” without a mask, Dr. Marrazzo said. But it’s important to think of all these factors in calculating your risk.
“I’m still wearing a mask when I go anywhere in public,” she said, citing vaccination rates that have not yet reached 50% in her area.
If that rate reached 80%, the typical percentage talked about for herd immunity, and new cases were low, Dr. Marrazzo said she might shed the mask.
The CDC also continues to recommend masks on mass transit for all.
One population that also must be considered, and who must evaluate their risk, even if vaccinated, are the immunocompromised, Dr. Marrazzo said. While people think of the immunocompromised as those with HIV or organ transplants, the numbers are actually much larger.
“A study a couple of years ago indicated up to 3% of Americans may actually have been told by their physician they have some of level of being immunocompromised,” she said. Among the examples are those who are on dialysis, on chemotherapy, or those taking any of the medications that modify the immune system.
“Millions of people fit this bill, and we have [very] little data on whether the vaccine works in them. We think it does,” Dr. Marrazzo said.
Still, she said, it’s a reason for these people to be cautious. For some other vaccines, the dose is modified for those who are immunocompromised. What’s not known yet is whether additional doses of the COVID vaccines might boost protection for those who are immunocompromised.
Many people, even after vaccination, may choose to keep wearing a mask especially in indoor, crowded settings, Dr. Duchin said. “We need to expect, accept, and respect continued mask wearing by anyone at any time.”
In most outdoor settings, he said, “I think masks are probably not necessary, vaccinated or not, regardless of age.” One exception: close face-to-face contact, such as in certain sports.
How to protect toddlers and infants
With masks not practical or recommended for infants and toddlers under 2 years old, Dr. Marrazzo said adults should remember that ‘’those very little kids don’t do poorly at all [even if infected], although there is not a ton of data.”
Adults should still treat young children as vulnerable, especially newborns. Adults not yet vaccinated should wear a mask when around them, she said.
J & J vaccine recipients
With less ‘’real world” data on the Johnson & Johnson vaccine, should those who got it think of themselves in a different risk group than those who got Moderna or Pfizer and adjust their behavior accordingly?
“The J&J vaccine, based on everything we know, does provide a great deal of protection,” Dr. Marrazzo said. ‘’We don’t know as much about prevention of transmission in the asymptomatic cases in the J&J.”
Most of that data, she said, is from the mRNA vaccines Pfizer and Moderna. “I think it’s an important area to study and learn about.” But all three vaccines, overall, provide a high level of protection, she said.
A version of this article first appeared on Medscape.com.
The Centers for Disease Control and Prevention’s latest guidance on what fully vaccinated people can do safely – including not socially distancing and not wearing a mask indoors or outdoors unless other regulations require it – has been widely misinterpreted and caused confusion, two infectious disease experts said at a briefing on May 20 hosted by the Infectious Diseases Society of America (IDSA).
The CDC did not ‘’lift” the mask mandate, but rather supplied guidance for those who are fully vaccinated. However, many questions and gray areas remain, and the experts addressed those. ‘’The CDC guidance is really directed at people who are fully vaccinated and who we know are likely to have a really solid response to the vaccine,” said Jeanne Marrazzo, MD, MPH, director of infectious diseases at the University of Alabama at Birmingham and an IDSA board member.
That message was largely lost, said Dr. Marrazzo and Jeffrey Duchin, MD, health officer of public health for Seattle and King County, Washington, and also an IDSA board member. Dr. Duchin said many people mistakenly regarded the new guidance as a message that the pandemic is over.
Among their practical tips on how to interpret the guidance:
To mask or not?
To make the decision, people need to think about not only the numbers of vaccinated versus unvaccinated individuals in their community but the local rates of disease, the experts said. And they need to know that the CDC guidance doesn’t apply if regulations by federal or state authorities or businesses and workplace are in conflict.
Deciding on mask use sometimes depends on where you are going. What about going into grocery stores or large bin stores without a mask? “If you are fully vaccinated and have no other conditions that compromise your immune system, and the rates of COVID are relatively low where you live, and the vaccination rates are high, I would be 100% fine” without a mask, Dr. Marrazzo said. But it’s important to think of all these factors in calculating your risk.
“I’m still wearing a mask when I go anywhere in public,” she said, citing vaccination rates that have not yet reached 50% in her area.
If that rate reached 80%, the typical percentage talked about for herd immunity, and new cases were low, Dr. Marrazzo said she might shed the mask.
The CDC also continues to recommend masks on mass transit for all.
One population that also must be considered, and who must evaluate their risk, even if vaccinated, are the immunocompromised, Dr. Marrazzo said. While people think of the immunocompromised as those with HIV or organ transplants, the numbers are actually much larger.
“A study a couple of years ago indicated up to 3% of Americans may actually have been told by their physician they have some of level of being immunocompromised,” she said. Among the examples are those who are on dialysis, on chemotherapy, or those taking any of the medications that modify the immune system.
“Millions of people fit this bill, and we have [very] little data on whether the vaccine works in them. We think it does,” Dr. Marrazzo said.
Still, she said, it’s a reason for these people to be cautious. For some other vaccines, the dose is modified for those who are immunocompromised. What’s not known yet is whether additional doses of the COVID vaccines might boost protection for those who are immunocompromised.
Many people, even after vaccination, may choose to keep wearing a mask especially in indoor, crowded settings, Dr. Duchin said. “We need to expect, accept, and respect continued mask wearing by anyone at any time.”
In most outdoor settings, he said, “I think masks are probably not necessary, vaccinated or not, regardless of age.” One exception: close face-to-face contact, such as in certain sports.
How to protect toddlers and infants
With masks not practical or recommended for infants and toddlers under 2 years old, Dr. Marrazzo said adults should remember that ‘’those very little kids don’t do poorly at all [even if infected], although there is not a ton of data.”
Adults should still treat young children as vulnerable, especially newborns. Adults not yet vaccinated should wear a mask when around them, she said.
J & J vaccine recipients
With less ‘’real world” data on the Johnson & Johnson vaccine, should those who got it think of themselves in a different risk group than those who got Moderna or Pfizer and adjust their behavior accordingly?
“The J&J vaccine, based on everything we know, does provide a great deal of protection,” Dr. Marrazzo said. ‘’We don’t know as much about prevention of transmission in the asymptomatic cases in the J&J.”
Most of that data, she said, is from the mRNA vaccines Pfizer and Moderna. “I think it’s an important area to study and learn about.” But all three vaccines, overall, provide a high level of protection, she said.
A version of this article first appeared on Medscape.com.
Polycystic ovary syndrome: It’s not just about fertility
Polycystic ovary syndrome, the most common endocrinopathy and most common cause of female infertility, affects 8%-13% of reproductive-aged women. PCOS has a profound impact on a woman’s life yet its diagnosis and management remain confusing despite being first described nearly a century ago by Stein and Leventhal.
To illustrate, in a global survey of 1,385 women with PCOS, one-third or more reported a delay of greater than 2 years and nearly half required evaluation by at least three health professionals before a diagnosis was established (J Clin Endocrinol Metab. 2017;102[2]:604-12). A vital health problem that urgently requires a gap analysis and needs assessment, PCOS is not “just about fertility” but has extensive gynecologic and metabolic consequences that require a personalized approach to care coordinated among the fields of internal medicine, pediatrics, dermatology, and, of course, gynecology.
Diagnosis in adults and adolescence
Normal menstrual intervals do not always equate with ovulation. Up to 40% of hirsute women with monthly cycles may not ovulate regularly. The Rotterdam criteria are used to confirm PCOS and require two of the following three: 1) ovulation dysfunction (cycle interval > 35 d or < 8 cycles/year); 2) hyperandrogenism (i.e., elevated total or free testosterone, DHEAS, or signs of hirsutism or acne with Ferriman-Gallwey score greater than 6); 3) polycystic ovaries on ultrasound (20 or more 2- to 9-mm follicles on at least one ovary, and/or increased ovarian volume (> 10 mL) – all at the exclusion of other etiologies including hyperprolactinemia, thyroid dysfunction, androgen-secreting tumors including Cushing’s syndrome, and nonclassic adrenal hyperplasia mostly easily screened by obtaining 17-hydroxyprogesterone.
For adolescents, by age 14 most will have adult androgen levels. Ovarian ultrasound should not be used as a criterion in this age group given the frequency of this appearance. Due to frequent menstrual irregularity, it is recommended to wait at least 2 years post menarche before consideration of a diagnosis.
Antimüllerian hormone is two- to threefold higher in women with PCOS but this hormone level has not yet been accepted as a diagnostic criterion.
The metabolic connection
A multisystem disorder whose name misdirects its morbidity, PCOS affects the metabolic, reproductive, and psychological system through vicious cycles of distorted feedback signals. Without a consensus of its origin, there appears to be a hypersensitivity of pituitary luteinizing hormone (LH) to hypothalamic gonadotrophin-releasing hormone. Consequently, elevated LH stimulates ovarian theca cells to increase androgens with resultant hyperandrogenic consequences. Parenthetically, the tonic elevation in LH explains the false-positive surges PCOS women experience when testing their urine during ovulation induction.
Elevations in insulin from unexplained damage to the insulin receptor acts synergistically with LH to increase ovarian androgens and inhibit ovulation. Hyperinsulinemia and abdominal fat deposition contribute to impaired glucose tolerance which is threefold higher with PCOS.
The metabolic syndrome, an association of disorders including hypertension, impaired glucose tolerance, dyslipidemia, and obesity, occurs at an increased overall prevalence rate of 43%-47% in women with PCOS, which is twice as high as in women without PCOS. PCOS is associated with low-grade chronic inflammation, which places these women at increased risk of nonalcoholic fatty liver disease. Dyslipidemia is the most common metabolic disorder in PCOS. These metabolic consequences, including obstructive sleep apnea, are worsened by hyperandrogenemia and an elevated BMI.
A genetic link
Multigenetic in origin, PCOS has a fivefold higher risk of inheritance from mothers with PCOS to daughters influenced by prenatal androgen exposure in utero. Genetic studies suggest a causal relationship between PCOS with body mass index, insulin resistance, onset of menopause, depression, and male-pattern balding (PLoS Genet 2018;14[12]:e10007813).
Fifteen genetic risk areas in the human genome seem to predispose to PCOS. New results suggest that altering the gut microbiome via prebiotic or probiotic therapies may be a potential treatment option.
Reproductive and gynecologic management
Due to chronic anovulation, unopposed estrogen can result in abnormal endometrial bleeding, endometrial hyperplasia, and a fourfold risk of endometrial cancer. This underscores the importance of regular progestin withdrawal, combined oral contraception (COC), or a progestin intrauterine device.
PCOS is a leading cause of infertility and is associated with abnormal bleeding, miscarriage, gestational diabetes, and gestational hypertension, all of which are higher based on a hyperandrogenic phenotype.
The rate of infertility in women with PCOS is 70%-80%, with ovulation dysfunction being the dominant cause. For years, the mainstay for ovulation induction was clomiphene citrate; however, letrozole has shown higher pregnancy success rates, particularly in women who have a BMI greater than 30 kg/m2. (N Engl J Med. 2014;371:119-29). Despite multiple studies demonstrating its efficacy and safety, letrozole remains without Food and Drug Administration approval for ovulation induction.
Metformin has been recommended in women with prediabetes or a BMI above 30, and it may improve menstrual regularity but has not been shown to improve live birth rates nor reduce the pregnancy complications of miscarriage or gestational diabetes. Inositol, the ubiquitous endogenous carbohydrate, has not demonstrated clear improvement in reproduction.
Laparoscopic ovarian diathermy (LOD) is a second-line treatment option, as is the use of gonadotropins, to overcome unsuccessful conservative attempts at ovulation induction. LOD is more invasive but outcomes are equivalent to gonadotropin usage while providing a dramatic reduction in multiple gestation, ovarian hyperstimulation syndrome, and cost (not including the surgical procedure). Ultimately, in vitro fertilization is an option for continued infertility in women with PCOS.
Metabolic/gynecologic management
Given the multisystem effect of PCOS, health care providers caring for these women should be vigilant and aggressive at ensuring appropriate monitoring and management. For women with PCOS with an elevated BMI, lifestyle modification is the first line of management. Weight loss alone of only 2%-5% may restore ovulation function.
The combination of dyslipidemia, elevated BMI, and impaired glucose tolerance would presumably predict the risk of cardiovascular events, yet the impact is not proven. Despite an increase in carotid intima media thickness, there are data that suggest only an increase in stroke or myocardial infarction (J Clin Endocrinol Metab. 2019;104[4]:1221-31).
Hyperandrogenism is cosmetically and psychologically disrupting to PCOS patients. The topical application of eflornithine hydrochloride may be of value for mild to moderate facial hair growth. Spironolactone is the preferred first-line agent. (Caution: effective contraception is necessary to avoid feminization of a male fetus). Women with PCOS have a higher risk of disordered eating and body image distress as well as a fivefold higher rate of mental distress such as anxiety and depression.
No specific diet has been determined as part of treatment, yet healthy food selection and caloric intake combined with exercise has been shown to improve metabolic and psychological well-being.
Conclusion
PCOS is a ubiquitous, frustrating, and life-altering disease. Health care providers, particularly those in women’s health, must ensure appropriate counseling and education with evidence-based medicine to empower patients toward improved health.
Dr. Trolice is director of Fertility CARE - The IVF Center in Winter Park, Fla., and professor of obstetrics and gynecology at the University of Central Florida, Orlando. He has no conflicts of interest. Please contact him at [email protected].
Polycystic ovary syndrome, the most common endocrinopathy and most common cause of female infertility, affects 8%-13% of reproductive-aged women. PCOS has a profound impact on a woman’s life yet its diagnosis and management remain confusing despite being first described nearly a century ago by Stein and Leventhal.
To illustrate, in a global survey of 1,385 women with PCOS, one-third or more reported a delay of greater than 2 years and nearly half required evaluation by at least three health professionals before a diagnosis was established (J Clin Endocrinol Metab. 2017;102[2]:604-12). A vital health problem that urgently requires a gap analysis and needs assessment, PCOS is not “just about fertility” but has extensive gynecologic and metabolic consequences that require a personalized approach to care coordinated among the fields of internal medicine, pediatrics, dermatology, and, of course, gynecology.
Diagnosis in adults and adolescence
Normal menstrual intervals do not always equate with ovulation. Up to 40% of hirsute women with monthly cycles may not ovulate regularly. The Rotterdam criteria are used to confirm PCOS and require two of the following three: 1) ovulation dysfunction (cycle interval > 35 d or < 8 cycles/year); 2) hyperandrogenism (i.e., elevated total or free testosterone, DHEAS, or signs of hirsutism or acne with Ferriman-Gallwey score greater than 6); 3) polycystic ovaries on ultrasound (20 or more 2- to 9-mm follicles on at least one ovary, and/or increased ovarian volume (> 10 mL) – all at the exclusion of other etiologies including hyperprolactinemia, thyroid dysfunction, androgen-secreting tumors including Cushing’s syndrome, and nonclassic adrenal hyperplasia mostly easily screened by obtaining 17-hydroxyprogesterone.
For adolescents, by age 14 most will have adult androgen levels. Ovarian ultrasound should not be used as a criterion in this age group given the frequency of this appearance. Due to frequent menstrual irregularity, it is recommended to wait at least 2 years post menarche before consideration of a diagnosis.
Antimüllerian hormone is two- to threefold higher in women with PCOS but this hormone level has not yet been accepted as a diagnostic criterion.
The metabolic connection
A multisystem disorder whose name misdirects its morbidity, PCOS affects the metabolic, reproductive, and psychological system through vicious cycles of distorted feedback signals. Without a consensus of its origin, there appears to be a hypersensitivity of pituitary luteinizing hormone (LH) to hypothalamic gonadotrophin-releasing hormone. Consequently, elevated LH stimulates ovarian theca cells to increase androgens with resultant hyperandrogenic consequences. Parenthetically, the tonic elevation in LH explains the false-positive surges PCOS women experience when testing their urine during ovulation induction.
Elevations in insulin from unexplained damage to the insulin receptor acts synergistically with LH to increase ovarian androgens and inhibit ovulation. Hyperinsulinemia and abdominal fat deposition contribute to impaired glucose tolerance which is threefold higher with PCOS.
The metabolic syndrome, an association of disorders including hypertension, impaired glucose tolerance, dyslipidemia, and obesity, occurs at an increased overall prevalence rate of 43%-47% in women with PCOS, which is twice as high as in women without PCOS. PCOS is associated with low-grade chronic inflammation, which places these women at increased risk of nonalcoholic fatty liver disease. Dyslipidemia is the most common metabolic disorder in PCOS. These metabolic consequences, including obstructive sleep apnea, are worsened by hyperandrogenemia and an elevated BMI.
A genetic link
Multigenetic in origin, PCOS has a fivefold higher risk of inheritance from mothers with PCOS to daughters influenced by prenatal androgen exposure in utero. Genetic studies suggest a causal relationship between PCOS with body mass index, insulin resistance, onset of menopause, depression, and male-pattern balding (PLoS Genet 2018;14[12]:e10007813).
Fifteen genetic risk areas in the human genome seem to predispose to PCOS. New results suggest that altering the gut microbiome via prebiotic or probiotic therapies may be a potential treatment option.
Reproductive and gynecologic management
Due to chronic anovulation, unopposed estrogen can result in abnormal endometrial bleeding, endometrial hyperplasia, and a fourfold risk of endometrial cancer. This underscores the importance of regular progestin withdrawal, combined oral contraception (COC), or a progestin intrauterine device.
PCOS is a leading cause of infertility and is associated with abnormal bleeding, miscarriage, gestational diabetes, and gestational hypertension, all of which are higher based on a hyperandrogenic phenotype.
The rate of infertility in women with PCOS is 70%-80%, with ovulation dysfunction being the dominant cause. For years, the mainstay for ovulation induction was clomiphene citrate; however, letrozole has shown higher pregnancy success rates, particularly in women who have a BMI greater than 30 kg/m2. (N Engl J Med. 2014;371:119-29). Despite multiple studies demonstrating its efficacy and safety, letrozole remains without Food and Drug Administration approval for ovulation induction.
Metformin has been recommended in women with prediabetes or a BMI above 30, and it may improve menstrual regularity but has not been shown to improve live birth rates nor reduce the pregnancy complications of miscarriage or gestational diabetes. Inositol, the ubiquitous endogenous carbohydrate, has not demonstrated clear improvement in reproduction.
Laparoscopic ovarian diathermy (LOD) is a second-line treatment option, as is the use of gonadotropins, to overcome unsuccessful conservative attempts at ovulation induction. LOD is more invasive but outcomes are equivalent to gonadotropin usage while providing a dramatic reduction in multiple gestation, ovarian hyperstimulation syndrome, and cost (not including the surgical procedure). Ultimately, in vitro fertilization is an option for continued infertility in women with PCOS.
Metabolic/gynecologic management
Given the multisystem effect of PCOS, health care providers caring for these women should be vigilant and aggressive at ensuring appropriate monitoring and management. For women with PCOS with an elevated BMI, lifestyle modification is the first line of management. Weight loss alone of only 2%-5% may restore ovulation function.
The combination of dyslipidemia, elevated BMI, and impaired glucose tolerance would presumably predict the risk of cardiovascular events, yet the impact is not proven. Despite an increase in carotid intima media thickness, there are data that suggest only an increase in stroke or myocardial infarction (J Clin Endocrinol Metab. 2019;104[4]:1221-31).
Hyperandrogenism is cosmetically and psychologically disrupting to PCOS patients. The topical application of eflornithine hydrochloride may be of value for mild to moderate facial hair growth. Spironolactone is the preferred first-line agent. (Caution: effective contraception is necessary to avoid feminization of a male fetus). Women with PCOS have a higher risk of disordered eating and body image distress as well as a fivefold higher rate of mental distress such as anxiety and depression.
No specific diet has been determined as part of treatment, yet healthy food selection and caloric intake combined with exercise has been shown to improve metabolic and psychological well-being.
Conclusion
PCOS is a ubiquitous, frustrating, and life-altering disease. Health care providers, particularly those in women’s health, must ensure appropriate counseling and education with evidence-based medicine to empower patients toward improved health.
Dr. Trolice is director of Fertility CARE - The IVF Center in Winter Park, Fla., and professor of obstetrics and gynecology at the University of Central Florida, Orlando. He has no conflicts of interest. Please contact him at [email protected].
Polycystic ovary syndrome, the most common endocrinopathy and most common cause of female infertility, affects 8%-13% of reproductive-aged women. PCOS has a profound impact on a woman’s life yet its diagnosis and management remain confusing despite being first described nearly a century ago by Stein and Leventhal.
To illustrate, in a global survey of 1,385 women with PCOS, one-third or more reported a delay of greater than 2 years and nearly half required evaluation by at least three health professionals before a diagnosis was established (J Clin Endocrinol Metab. 2017;102[2]:604-12). A vital health problem that urgently requires a gap analysis and needs assessment, PCOS is not “just about fertility” but has extensive gynecologic and metabolic consequences that require a personalized approach to care coordinated among the fields of internal medicine, pediatrics, dermatology, and, of course, gynecology.
Diagnosis in adults and adolescence
Normal menstrual intervals do not always equate with ovulation. Up to 40% of hirsute women with monthly cycles may not ovulate regularly. The Rotterdam criteria are used to confirm PCOS and require two of the following three: 1) ovulation dysfunction (cycle interval > 35 d or < 8 cycles/year); 2) hyperandrogenism (i.e., elevated total or free testosterone, DHEAS, or signs of hirsutism or acne with Ferriman-Gallwey score greater than 6); 3) polycystic ovaries on ultrasound (20 or more 2- to 9-mm follicles on at least one ovary, and/or increased ovarian volume (> 10 mL) – all at the exclusion of other etiologies including hyperprolactinemia, thyroid dysfunction, androgen-secreting tumors including Cushing’s syndrome, and nonclassic adrenal hyperplasia mostly easily screened by obtaining 17-hydroxyprogesterone.
For adolescents, by age 14 most will have adult androgen levels. Ovarian ultrasound should not be used as a criterion in this age group given the frequency of this appearance. Due to frequent menstrual irregularity, it is recommended to wait at least 2 years post menarche before consideration of a diagnosis.
Antimüllerian hormone is two- to threefold higher in women with PCOS but this hormone level has not yet been accepted as a diagnostic criterion.
The metabolic connection
A multisystem disorder whose name misdirects its morbidity, PCOS affects the metabolic, reproductive, and psychological system through vicious cycles of distorted feedback signals. Without a consensus of its origin, there appears to be a hypersensitivity of pituitary luteinizing hormone (LH) to hypothalamic gonadotrophin-releasing hormone. Consequently, elevated LH stimulates ovarian theca cells to increase androgens with resultant hyperandrogenic consequences. Parenthetically, the tonic elevation in LH explains the false-positive surges PCOS women experience when testing their urine during ovulation induction.
Elevations in insulin from unexplained damage to the insulin receptor acts synergistically with LH to increase ovarian androgens and inhibit ovulation. Hyperinsulinemia and abdominal fat deposition contribute to impaired glucose tolerance which is threefold higher with PCOS.
The metabolic syndrome, an association of disorders including hypertension, impaired glucose tolerance, dyslipidemia, and obesity, occurs at an increased overall prevalence rate of 43%-47% in women with PCOS, which is twice as high as in women without PCOS. PCOS is associated with low-grade chronic inflammation, which places these women at increased risk of nonalcoholic fatty liver disease. Dyslipidemia is the most common metabolic disorder in PCOS. These metabolic consequences, including obstructive sleep apnea, are worsened by hyperandrogenemia and an elevated BMI.
A genetic link
Multigenetic in origin, PCOS has a fivefold higher risk of inheritance from mothers with PCOS to daughters influenced by prenatal androgen exposure in utero. Genetic studies suggest a causal relationship between PCOS with body mass index, insulin resistance, onset of menopause, depression, and male-pattern balding (PLoS Genet 2018;14[12]:e10007813).
Fifteen genetic risk areas in the human genome seem to predispose to PCOS. New results suggest that altering the gut microbiome via prebiotic or probiotic therapies may be a potential treatment option.
Reproductive and gynecologic management
Due to chronic anovulation, unopposed estrogen can result in abnormal endometrial bleeding, endometrial hyperplasia, and a fourfold risk of endometrial cancer. This underscores the importance of regular progestin withdrawal, combined oral contraception (COC), or a progestin intrauterine device.
PCOS is a leading cause of infertility and is associated with abnormal bleeding, miscarriage, gestational diabetes, and gestational hypertension, all of which are higher based on a hyperandrogenic phenotype.
The rate of infertility in women with PCOS is 70%-80%, with ovulation dysfunction being the dominant cause. For years, the mainstay for ovulation induction was clomiphene citrate; however, letrozole has shown higher pregnancy success rates, particularly in women who have a BMI greater than 30 kg/m2. (N Engl J Med. 2014;371:119-29). Despite multiple studies demonstrating its efficacy and safety, letrozole remains without Food and Drug Administration approval for ovulation induction.
Metformin has been recommended in women with prediabetes or a BMI above 30, and it may improve menstrual regularity but has not been shown to improve live birth rates nor reduce the pregnancy complications of miscarriage or gestational diabetes. Inositol, the ubiquitous endogenous carbohydrate, has not demonstrated clear improvement in reproduction.
Laparoscopic ovarian diathermy (LOD) is a second-line treatment option, as is the use of gonadotropins, to overcome unsuccessful conservative attempts at ovulation induction. LOD is more invasive but outcomes are equivalent to gonadotropin usage while providing a dramatic reduction in multiple gestation, ovarian hyperstimulation syndrome, and cost (not including the surgical procedure). Ultimately, in vitro fertilization is an option for continued infertility in women with PCOS.
Metabolic/gynecologic management
Given the multisystem effect of PCOS, health care providers caring for these women should be vigilant and aggressive at ensuring appropriate monitoring and management. For women with PCOS with an elevated BMI, lifestyle modification is the first line of management. Weight loss alone of only 2%-5% may restore ovulation function.
The combination of dyslipidemia, elevated BMI, and impaired glucose tolerance would presumably predict the risk of cardiovascular events, yet the impact is not proven. Despite an increase in carotid intima media thickness, there are data that suggest only an increase in stroke or myocardial infarction (J Clin Endocrinol Metab. 2019;104[4]:1221-31).
Hyperandrogenism is cosmetically and psychologically disrupting to PCOS patients. The topical application of eflornithine hydrochloride may be of value for mild to moderate facial hair growth. Spironolactone is the preferred first-line agent. (Caution: effective contraception is necessary to avoid feminization of a male fetus). Women with PCOS have a higher risk of disordered eating and body image distress as well as a fivefold higher rate of mental distress such as anxiety and depression.
No specific diet has been determined as part of treatment, yet healthy food selection and caloric intake combined with exercise has been shown to improve metabolic and psychological well-being.
Conclusion
PCOS is a ubiquitous, frustrating, and life-altering disease. Health care providers, particularly those in women’s health, must ensure appropriate counseling and education with evidence-based medicine to empower patients toward improved health.
Dr. Trolice is director of Fertility CARE - The IVF Center in Winter Park, Fla., and professor of obstetrics and gynecology at the University of Central Florida, Orlando. He has no conflicts of interest. Please contact him at [email protected].
Ob.gyn. pay up slightly during pandemic, survey finds
Although 45% of ob.gyns. reported some decline in compensation during the pandemic, they earned more income in 2020 than they did in 2019, according to the 2021 Medscape Ob/Gyn Compensation Report.
The report, which surveyed nearly 18,000 physicians in more than 29 specialties, found that ob.gyns.’ income level was $312,000 in 2020, compared with $308,000 in 2019.
Despite the $4,000 increase, they still ranked near the bottom half in comparison with all other specialties. The lowest-paid specialties were public health & preventive medicine ($237,000), family medicine ($236,000), and pediatrics ($221,000), and the top earning specialties were plastic surgery ($526,000), orthopedics ($511,000), and cardiology ($459,000).
Optimistic about financial bounce back
Most ob.gyns. who experienced income loss cited job loss, reduction in hours, and lower patient volume because of the COVID-19 pandemic as reasons for their wage decline.
The specialty’s average incentive bonus, which is usually based on productivity and can be tied to patient satisfaction and clinical processes, was $48,000, and accounted for about 14% of total salary.
Of the ob.gyns. who reported financial losses during the pandemic, 41% expect their income to return to normal this year. However, 45% believe it will take 2-3 years to bounce back from the pandemic’s financial effect. About 11% believe they will never return to their pre–COVID-19 income.
Working similar hours, seeing fewer patients
The survey also found that ob.gyns. are back to working about the same number of hours they did prepandemic. Ob.gyns. currently work on average 54 hours per week, compared with the 56 hours per week they worked before the pandemic. However, they are only seeing 76 patients per week, compared with 81 patients per week before the pandemic.
Ob.gyns. reported spending 15.1 hours per week on medical-related work outside of patient visits, including paperwork, EHR documentation, administrative and managerial work, and clinical reading. The time required was slightly longer than last year (14.3 hours per week).
Similar to last year’s report, 55% of ob.gyns. said they are fairly compensated. Around 34% of them said the most rewarding part of their job is the relationships they have with their patients, followed by helping others (23%), and being good at what they do (22%). Only 11% said money was the most rewarding part of their job.
Challenges
The pandemic has brought many challenges for physicians, including financial difficulties and the potential to be exposed to SARS-CoV-2. However, when asked about the most challenging part of their job, only 4% of ob.gyns. said the danger or risk associated with treating patients with COVID-19 was the most challenging aspect of their job. By contrast, 21% of ob.gyns. said working long hours and having so many rules and regulations bog down their daily work.
Despite the pandemic-related challenges, 74% of ob.gyns. said they would choose medicine again and work in the same specialty.
A version of this article first appeared on Medscape.com.
Although 45% of ob.gyns. reported some decline in compensation during the pandemic, they earned more income in 2020 than they did in 2019, according to the 2021 Medscape Ob/Gyn Compensation Report.
The report, which surveyed nearly 18,000 physicians in more than 29 specialties, found that ob.gyns.’ income level was $312,000 in 2020, compared with $308,000 in 2019.
Despite the $4,000 increase, they still ranked near the bottom half in comparison with all other specialties. The lowest-paid specialties were public health & preventive medicine ($237,000), family medicine ($236,000), and pediatrics ($221,000), and the top earning specialties were plastic surgery ($526,000), orthopedics ($511,000), and cardiology ($459,000).
Optimistic about financial bounce back
Most ob.gyns. who experienced income loss cited job loss, reduction in hours, and lower patient volume because of the COVID-19 pandemic as reasons for their wage decline.
The specialty’s average incentive bonus, which is usually based on productivity and can be tied to patient satisfaction and clinical processes, was $48,000, and accounted for about 14% of total salary.
Of the ob.gyns. who reported financial losses during the pandemic, 41% expect their income to return to normal this year. However, 45% believe it will take 2-3 years to bounce back from the pandemic’s financial effect. About 11% believe they will never return to their pre–COVID-19 income.
Working similar hours, seeing fewer patients
The survey also found that ob.gyns. are back to working about the same number of hours they did prepandemic. Ob.gyns. currently work on average 54 hours per week, compared with the 56 hours per week they worked before the pandemic. However, they are only seeing 76 patients per week, compared with 81 patients per week before the pandemic.
Ob.gyns. reported spending 15.1 hours per week on medical-related work outside of patient visits, including paperwork, EHR documentation, administrative and managerial work, and clinical reading. The time required was slightly longer than last year (14.3 hours per week).
Similar to last year’s report, 55% of ob.gyns. said they are fairly compensated. Around 34% of them said the most rewarding part of their job is the relationships they have with their patients, followed by helping others (23%), and being good at what they do (22%). Only 11% said money was the most rewarding part of their job.
Challenges
The pandemic has brought many challenges for physicians, including financial difficulties and the potential to be exposed to SARS-CoV-2. However, when asked about the most challenging part of their job, only 4% of ob.gyns. said the danger or risk associated with treating patients with COVID-19 was the most challenging aspect of their job. By contrast, 21% of ob.gyns. said working long hours and having so many rules and regulations bog down their daily work.
Despite the pandemic-related challenges, 74% of ob.gyns. said they would choose medicine again and work in the same specialty.
A version of this article first appeared on Medscape.com.
Although 45% of ob.gyns. reported some decline in compensation during the pandemic, they earned more income in 2020 than they did in 2019, according to the 2021 Medscape Ob/Gyn Compensation Report.
The report, which surveyed nearly 18,000 physicians in more than 29 specialties, found that ob.gyns.’ income level was $312,000 in 2020, compared with $308,000 in 2019.
Despite the $4,000 increase, they still ranked near the bottom half in comparison with all other specialties. The lowest-paid specialties were public health & preventive medicine ($237,000), family medicine ($236,000), and pediatrics ($221,000), and the top earning specialties were plastic surgery ($526,000), orthopedics ($511,000), and cardiology ($459,000).
Optimistic about financial bounce back
Most ob.gyns. who experienced income loss cited job loss, reduction in hours, and lower patient volume because of the COVID-19 pandemic as reasons for their wage decline.
The specialty’s average incentive bonus, which is usually based on productivity and can be tied to patient satisfaction and clinical processes, was $48,000, and accounted for about 14% of total salary.
Of the ob.gyns. who reported financial losses during the pandemic, 41% expect their income to return to normal this year. However, 45% believe it will take 2-3 years to bounce back from the pandemic’s financial effect. About 11% believe they will never return to their pre–COVID-19 income.
Working similar hours, seeing fewer patients
The survey also found that ob.gyns. are back to working about the same number of hours they did prepandemic. Ob.gyns. currently work on average 54 hours per week, compared with the 56 hours per week they worked before the pandemic. However, they are only seeing 76 patients per week, compared with 81 patients per week before the pandemic.
Ob.gyns. reported spending 15.1 hours per week on medical-related work outside of patient visits, including paperwork, EHR documentation, administrative and managerial work, and clinical reading. The time required was slightly longer than last year (14.3 hours per week).
Similar to last year’s report, 55% of ob.gyns. said they are fairly compensated. Around 34% of them said the most rewarding part of their job is the relationships they have with their patients, followed by helping others (23%), and being good at what they do (22%). Only 11% said money was the most rewarding part of their job.
Challenges
The pandemic has brought many challenges for physicians, including financial difficulties and the potential to be exposed to SARS-CoV-2. However, when asked about the most challenging part of their job, only 4% of ob.gyns. said the danger or risk associated with treating patients with COVID-19 was the most challenging aspect of their job. By contrast, 21% of ob.gyns. said working long hours and having so many rules and regulations bog down their daily work.
Despite the pandemic-related challenges, 74% of ob.gyns. said they would choose medicine again and work in the same specialty.
A version of this article first appeared on Medscape.com.
A new take on breathing and a performance-enhancing placebo
No ifs, ands, or butt ventilators
Breathing, on most days, is a pretty simple task. You inhale, the oxygen goes in, fills your lungs, becomes carbon dioxide, and is exhaled. But as certain recent events have made very clear, some diseases make this task difficult, which is where ventilators come in. The issue is, some patients can’t really use ventilators.
Enter a new study from Japan, which tested the ability of mice and pigs to absorb oxygen through the rectum. Yes, breathing through the butt. It’s not actually such a far-fetched idea; several aquatic animals such as sea cucumbers and catfish absorb oxygen through their intestines, and as any drunken frat boy can tell you after a good butt chug, other chemicals can absolutely be absorbed by human intestines.
After an initial successful experiment where a group of mice had their intestines scrubbed, had pure oxygen inserted enterally, and were exposed to a hypoxic environment, the researchers decided to step up their game and avoid the exhaustive act of digestive scrubbing by enlisting the aid of something out of science fiction: perfluorocarbon. If you haven’t seen “The Abyss,” this liquid can absorb massive amounts of oxygen, so you can actually breathe it in the same way you do with air.
In part two of the experiment, a group of hypoxic mice and pigs had perfluorocarbon inserted into their anuses, while another group got saline solution. The saline group did not fare well, but the animals that got perfluorocarbon had their hypoxic symptoms relieved within minutes.
The effectiveness of this procedure in humans clearly has yet to be tested, and while it may not be useful in all, or even most, situations, it is always beneficial to have more ways to combat a problem. Just don’t tell the frat boys: They’ll be hooking oxygen tanks up to their butts and chanting: “Breathe! Breathe! Breathe!”
Better, stronger, faster … pinker
Many people, most of whom aren’t even athletes, commit huge amounts of time, effort, and expense to improve their athletic performance. But what if there’s an easier way?
Research conducted at the University of Westminster (England) showed that participants could, with one fairly simple intervention, get on a treadmill and run 212 meters further in 30 minutes, increasing their speed by an average of 4.4%. Not only that, but “feelings of pleasure were also enhanced, meaning participants found running more enjoyable,” according to a statement from the university.
Is this amazing intervention a new wonder drug? No. Is it a super special nutritional supplement? Negatory. An energy drink that “gives you wiiings”? Nope. The latest designer steroid? Nyet.
Like we said, it’s simple, and it’s pink. Literally, the color pink. We will explain.
Each of the 10 study subjects completed two 30-minute trials on the treadmill. For one, they were given a clear, artificially sweetened drink while they were running. For the other, they received the exact same drink colored pink with food dye. Pink did better. So to recap the last month in our column, faster looks pink, and skinny smells like lemons.
Once again, science demonstrates that you can’t go wrong by fooling a brain. Next week, LOTME tries to find out if purple makes you funnier.
Hey … I’m singing here!
Noise pollution has been linked to plenty of negative outcomes, but the latest target is the poor baby zebra finch.
Researchers at the Max Planck Institute of Ornithology in Germany say traffic noise disrupts the timing of vocal development and impairs learning in the flying finches. The noise was also shown to suppress their immune systems, because of lingering stress.
The good news is that the birds with noise-induced stress sang as much as their peers in a control group, so the delay in development “was not due to a lack of vocal practice,” according to researchers. However, one long-term effect could be that zebra finch birdsongs could change over time due to noise-induced copying errors. Imagine a really long game of birdsong telephone – the song at the beginning is unlikely to be the song years from now.
While not mentioned in the study, one could also imagine that due to all that exposure to traffic, young zebra finches could be developing a salty dialect and impatience with fellow finches taking up too much space on the same tree branch. Hopefully, they don’t give others “the bird.”
Slimy soap
Remember at the beginning of the pandemic when it was almost impossible to find sufficient hand-washing supplies? Just when you thought you’d tried everything, there is soap made from snail slime.
Snail slime, surprisingly, has many beneficial properties for humans. The slime has antiaging and skin healing properties and is actually used in some Korean beauty supplies. The snails even use the slime to help fix their shells if they become damaged.
Happily, no snails are harmed in the slime extraction and making of the soap. Snail farmer Damien Desrochers says, “I only touch it with my finger, you see it’s not violent, it’s simple.”
As you can probably imagine, a lot of slime is needed to have a steady supply of this soap, so Mr. Desrochers has systems in place to get enough slime. Approximately 40 snails are needed to make 15 bars of soap, and he hopes to produce about 3,000 bars in the first year.
Nothing really surprises us anymore in the beauty world: People put eggs in their hair and bee venom on their skin, so what’s wrong with a little snail slime?
No ifs, ands, or butt ventilators
Breathing, on most days, is a pretty simple task. You inhale, the oxygen goes in, fills your lungs, becomes carbon dioxide, and is exhaled. But as certain recent events have made very clear, some diseases make this task difficult, which is where ventilators come in. The issue is, some patients can’t really use ventilators.
Enter a new study from Japan, which tested the ability of mice and pigs to absorb oxygen through the rectum. Yes, breathing through the butt. It’s not actually such a far-fetched idea; several aquatic animals such as sea cucumbers and catfish absorb oxygen through their intestines, and as any drunken frat boy can tell you after a good butt chug, other chemicals can absolutely be absorbed by human intestines.
After an initial successful experiment where a group of mice had their intestines scrubbed, had pure oxygen inserted enterally, and were exposed to a hypoxic environment, the researchers decided to step up their game and avoid the exhaustive act of digestive scrubbing by enlisting the aid of something out of science fiction: perfluorocarbon. If you haven’t seen “The Abyss,” this liquid can absorb massive amounts of oxygen, so you can actually breathe it in the same way you do with air.
In part two of the experiment, a group of hypoxic mice and pigs had perfluorocarbon inserted into their anuses, while another group got saline solution. The saline group did not fare well, but the animals that got perfluorocarbon had their hypoxic symptoms relieved within minutes.
The effectiveness of this procedure in humans clearly has yet to be tested, and while it may not be useful in all, or even most, situations, it is always beneficial to have more ways to combat a problem. Just don’t tell the frat boys: They’ll be hooking oxygen tanks up to their butts and chanting: “Breathe! Breathe! Breathe!”
Better, stronger, faster … pinker
Many people, most of whom aren’t even athletes, commit huge amounts of time, effort, and expense to improve their athletic performance. But what if there’s an easier way?
Research conducted at the University of Westminster (England) showed that participants could, with one fairly simple intervention, get on a treadmill and run 212 meters further in 30 minutes, increasing their speed by an average of 4.4%. Not only that, but “feelings of pleasure were also enhanced, meaning participants found running more enjoyable,” according to a statement from the university.
Is this amazing intervention a new wonder drug? No. Is it a super special nutritional supplement? Negatory. An energy drink that “gives you wiiings”? Nope. The latest designer steroid? Nyet.
Like we said, it’s simple, and it’s pink. Literally, the color pink. We will explain.
Each of the 10 study subjects completed two 30-minute trials on the treadmill. For one, they were given a clear, artificially sweetened drink while they were running. For the other, they received the exact same drink colored pink with food dye. Pink did better. So to recap the last month in our column, faster looks pink, and skinny smells like lemons.
Once again, science demonstrates that you can’t go wrong by fooling a brain. Next week, LOTME tries to find out if purple makes you funnier.
Hey … I’m singing here!
Noise pollution has been linked to plenty of negative outcomes, but the latest target is the poor baby zebra finch.
Researchers at the Max Planck Institute of Ornithology in Germany say traffic noise disrupts the timing of vocal development and impairs learning in the flying finches. The noise was also shown to suppress their immune systems, because of lingering stress.
The good news is that the birds with noise-induced stress sang as much as their peers in a control group, so the delay in development “was not due to a lack of vocal practice,” according to researchers. However, one long-term effect could be that zebra finch birdsongs could change over time due to noise-induced copying errors. Imagine a really long game of birdsong telephone – the song at the beginning is unlikely to be the song years from now.
While not mentioned in the study, one could also imagine that due to all that exposure to traffic, young zebra finches could be developing a salty dialect and impatience with fellow finches taking up too much space on the same tree branch. Hopefully, they don’t give others “the bird.”
Slimy soap
Remember at the beginning of the pandemic when it was almost impossible to find sufficient hand-washing supplies? Just when you thought you’d tried everything, there is soap made from snail slime.
Snail slime, surprisingly, has many beneficial properties for humans. The slime has antiaging and skin healing properties and is actually used in some Korean beauty supplies. The snails even use the slime to help fix their shells if they become damaged.
Happily, no snails are harmed in the slime extraction and making of the soap. Snail farmer Damien Desrochers says, “I only touch it with my finger, you see it’s not violent, it’s simple.”
As you can probably imagine, a lot of slime is needed to have a steady supply of this soap, so Mr. Desrochers has systems in place to get enough slime. Approximately 40 snails are needed to make 15 bars of soap, and he hopes to produce about 3,000 bars in the first year.
Nothing really surprises us anymore in the beauty world: People put eggs in their hair and bee venom on their skin, so what’s wrong with a little snail slime?
No ifs, ands, or butt ventilators
Breathing, on most days, is a pretty simple task. You inhale, the oxygen goes in, fills your lungs, becomes carbon dioxide, and is exhaled. But as certain recent events have made very clear, some diseases make this task difficult, which is where ventilators come in. The issue is, some patients can’t really use ventilators.
Enter a new study from Japan, which tested the ability of mice and pigs to absorb oxygen through the rectum. Yes, breathing through the butt. It’s not actually such a far-fetched idea; several aquatic animals such as sea cucumbers and catfish absorb oxygen through their intestines, and as any drunken frat boy can tell you after a good butt chug, other chemicals can absolutely be absorbed by human intestines.
After an initial successful experiment where a group of mice had their intestines scrubbed, had pure oxygen inserted enterally, and were exposed to a hypoxic environment, the researchers decided to step up their game and avoid the exhaustive act of digestive scrubbing by enlisting the aid of something out of science fiction: perfluorocarbon. If you haven’t seen “The Abyss,” this liquid can absorb massive amounts of oxygen, so you can actually breathe it in the same way you do with air.
In part two of the experiment, a group of hypoxic mice and pigs had perfluorocarbon inserted into their anuses, while another group got saline solution. The saline group did not fare well, but the animals that got perfluorocarbon had their hypoxic symptoms relieved within minutes.
The effectiveness of this procedure in humans clearly has yet to be tested, and while it may not be useful in all, or even most, situations, it is always beneficial to have more ways to combat a problem. Just don’t tell the frat boys: They’ll be hooking oxygen tanks up to their butts and chanting: “Breathe! Breathe! Breathe!”
Better, stronger, faster … pinker
Many people, most of whom aren’t even athletes, commit huge amounts of time, effort, and expense to improve their athletic performance. But what if there’s an easier way?
Research conducted at the University of Westminster (England) showed that participants could, with one fairly simple intervention, get on a treadmill and run 212 meters further in 30 minutes, increasing their speed by an average of 4.4%. Not only that, but “feelings of pleasure were also enhanced, meaning participants found running more enjoyable,” according to a statement from the university.
Is this amazing intervention a new wonder drug? No. Is it a super special nutritional supplement? Negatory. An energy drink that “gives you wiiings”? Nope. The latest designer steroid? Nyet.
Like we said, it’s simple, and it’s pink. Literally, the color pink. We will explain.
Each of the 10 study subjects completed two 30-minute trials on the treadmill. For one, they were given a clear, artificially sweetened drink while they were running. For the other, they received the exact same drink colored pink with food dye. Pink did better. So to recap the last month in our column, faster looks pink, and skinny smells like lemons.
Once again, science demonstrates that you can’t go wrong by fooling a brain. Next week, LOTME tries to find out if purple makes you funnier.
Hey … I’m singing here!
Noise pollution has been linked to plenty of negative outcomes, but the latest target is the poor baby zebra finch.
Researchers at the Max Planck Institute of Ornithology in Germany say traffic noise disrupts the timing of vocal development and impairs learning in the flying finches. The noise was also shown to suppress their immune systems, because of lingering stress.
The good news is that the birds with noise-induced stress sang as much as their peers in a control group, so the delay in development “was not due to a lack of vocal practice,” according to researchers. However, one long-term effect could be that zebra finch birdsongs could change over time due to noise-induced copying errors. Imagine a really long game of birdsong telephone – the song at the beginning is unlikely to be the song years from now.
While not mentioned in the study, one could also imagine that due to all that exposure to traffic, young zebra finches could be developing a salty dialect and impatience with fellow finches taking up too much space on the same tree branch. Hopefully, they don’t give others “the bird.”
Slimy soap
Remember at the beginning of the pandemic when it was almost impossible to find sufficient hand-washing supplies? Just when you thought you’d tried everything, there is soap made from snail slime.
Snail slime, surprisingly, has many beneficial properties for humans. The slime has antiaging and skin healing properties and is actually used in some Korean beauty supplies. The snails even use the slime to help fix their shells if they become damaged.
Happily, no snails are harmed in the slime extraction and making of the soap. Snail farmer Damien Desrochers says, “I only touch it with my finger, you see it’s not violent, it’s simple.”
As you can probably imagine, a lot of slime is needed to have a steady supply of this soap, so Mr. Desrochers has systems in place to get enough slime. Approximately 40 snails are needed to make 15 bars of soap, and he hopes to produce about 3,000 bars in the first year.
Nothing really surprises us anymore in the beauty world: People put eggs in their hair and bee venom on their skin, so what’s wrong with a little snail slime?
Mother-to-infant COVID-19 transmission is unlikely
Mothers with a history of COVID-19 exposure during pregnancy are not likely to transmit the infection to their newborns, based on data from more than 2,000 women.
“Uncertainty at the onset of the COVID-19 pandemic led to varying postnatal care recommendations for newborns exposed to SARS-CoV-2 in utero,” said Margaret H. Kyle, of Columbia University, New York, and colleagues.
The Columbia University Irving Medical Center, an early epicenter of the pandemic, allowed rooming-in and encouraged direct breastfeeding between infected mothers and their newborns while adopting extensive safety measures, the researchers said.
In a study presented at the virtual meeting of the Pediatric Academic Societies (Poster 141), the researchers conducted a retrospective chart review of all newborns born at the medical center from March 22, 2020, through August 7, 2020. The study was part of Columbia University’s ongoing COVID-19 Mother Baby Outcomes (COMBO) initiative to “describe the health and well-being of mother-infant dyads with and without prenatal SARS-CoV-2 infections,” according to the researchers.
During the study period, the researchers identified newborns of 327 women who tested positive for COVID-19 at any point during pregnancy and compared them to newborns of 2,125 unexposed women. Demographics were similar between the groups.
Overall, the total test positivity was 0.7% for exposed newborns; 1.0% tested positive on an initial test, and 0% were positive on retest. During the newborn hospital stay and a 2-week follow-up, 0% of all newborns showed clinical evidence of infection.
No significant differences were noted between exposed and unexposed newborns in clinical outcomes including gestational age, mode of delivery, 5-minute Apgar score, heart rate, respiratory rate, or temperature. Although more infants of COVID-19–exposed mothers compared with unexposed mothers had an emergency department visit within the first 14 days of life (6% vs. 3%, P = .002), none of the infants was diagnosed with COVID-19 during these visits. Cough, fever, congestion, or bilirubin were more frequent reasons for emergency department visits in the exposed infants compared with unexposed infants, but these differences were not significant.
The study findings were limited by several factors, including the retrospective design and the limited follow-up period to only the first 2 weeks of life, the researchers noted. In addition, perinatal transmission rates were available only for the 202 newborns who were followed up in the hospital system, they said. However, the results suggest that the risk of mother-to-newborn vertical transmission of COVID-19 remains low, even when mothers are breastfeeding and infants are rooming in, they concluded.
Study supports safety of rooming in
The study is important because of the value of mother and infant bonding, Karalyn Kinsella, MD, a pediatrician in Cheshire, Conn., said in an interview. “We know maternal and infant bonding and breastfeeding are extremely important in the first few days of life,” she said. “Initially, COVID-positive moms were separated from their babies during this important time.” Dr. Kinsella said she was not surprised by the study findings, as they reflect other research that newborns have not been getting infected with COVID-19 from their mothers.
Consequently, the take-home message is that newborns can room in with their mothers in the hospital setting, and they are at low risk for COVID-19 regardless of the mother’s exposure history, said Dr. Kinsella. Looking ahead, future areas of research could include examining SARS-CoV-2 antibodies in newborns, she noted.
The study received no outside funding. The researchers had no financial conflicts to disclose. Dr. Kinsella had no financial conflicts to disclose, but serves on the Pediatric News Editorial Advisory Board.
Mothers with a history of COVID-19 exposure during pregnancy are not likely to transmit the infection to their newborns, based on data from more than 2,000 women.
“Uncertainty at the onset of the COVID-19 pandemic led to varying postnatal care recommendations for newborns exposed to SARS-CoV-2 in utero,” said Margaret H. Kyle, of Columbia University, New York, and colleagues.
The Columbia University Irving Medical Center, an early epicenter of the pandemic, allowed rooming-in and encouraged direct breastfeeding between infected mothers and their newborns while adopting extensive safety measures, the researchers said.
In a study presented at the virtual meeting of the Pediatric Academic Societies (Poster 141), the researchers conducted a retrospective chart review of all newborns born at the medical center from March 22, 2020, through August 7, 2020. The study was part of Columbia University’s ongoing COVID-19 Mother Baby Outcomes (COMBO) initiative to “describe the health and well-being of mother-infant dyads with and without prenatal SARS-CoV-2 infections,” according to the researchers.
During the study period, the researchers identified newborns of 327 women who tested positive for COVID-19 at any point during pregnancy and compared them to newborns of 2,125 unexposed women. Demographics were similar between the groups.
Overall, the total test positivity was 0.7% for exposed newborns; 1.0% tested positive on an initial test, and 0% were positive on retest. During the newborn hospital stay and a 2-week follow-up, 0% of all newborns showed clinical evidence of infection.
No significant differences were noted between exposed and unexposed newborns in clinical outcomes including gestational age, mode of delivery, 5-minute Apgar score, heart rate, respiratory rate, or temperature. Although more infants of COVID-19–exposed mothers compared with unexposed mothers had an emergency department visit within the first 14 days of life (6% vs. 3%, P = .002), none of the infants was diagnosed with COVID-19 during these visits. Cough, fever, congestion, or bilirubin were more frequent reasons for emergency department visits in the exposed infants compared with unexposed infants, but these differences were not significant.
The study findings were limited by several factors, including the retrospective design and the limited follow-up period to only the first 2 weeks of life, the researchers noted. In addition, perinatal transmission rates were available only for the 202 newborns who were followed up in the hospital system, they said. However, the results suggest that the risk of mother-to-newborn vertical transmission of COVID-19 remains low, even when mothers are breastfeeding and infants are rooming in, they concluded.
Study supports safety of rooming in
The study is important because of the value of mother and infant bonding, Karalyn Kinsella, MD, a pediatrician in Cheshire, Conn., said in an interview. “We know maternal and infant bonding and breastfeeding are extremely important in the first few days of life,” she said. “Initially, COVID-positive moms were separated from their babies during this important time.” Dr. Kinsella said she was not surprised by the study findings, as they reflect other research that newborns have not been getting infected with COVID-19 from their mothers.
Consequently, the take-home message is that newborns can room in with their mothers in the hospital setting, and they are at low risk for COVID-19 regardless of the mother’s exposure history, said Dr. Kinsella. Looking ahead, future areas of research could include examining SARS-CoV-2 antibodies in newborns, she noted.
The study received no outside funding. The researchers had no financial conflicts to disclose. Dr. Kinsella had no financial conflicts to disclose, but serves on the Pediatric News Editorial Advisory Board.
Mothers with a history of COVID-19 exposure during pregnancy are not likely to transmit the infection to their newborns, based on data from more than 2,000 women.
“Uncertainty at the onset of the COVID-19 pandemic led to varying postnatal care recommendations for newborns exposed to SARS-CoV-2 in utero,” said Margaret H. Kyle, of Columbia University, New York, and colleagues.
The Columbia University Irving Medical Center, an early epicenter of the pandemic, allowed rooming-in and encouraged direct breastfeeding between infected mothers and their newborns while adopting extensive safety measures, the researchers said.
In a study presented at the virtual meeting of the Pediatric Academic Societies (Poster 141), the researchers conducted a retrospective chart review of all newborns born at the medical center from March 22, 2020, through August 7, 2020. The study was part of Columbia University’s ongoing COVID-19 Mother Baby Outcomes (COMBO) initiative to “describe the health and well-being of mother-infant dyads with and without prenatal SARS-CoV-2 infections,” according to the researchers.
During the study period, the researchers identified newborns of 327 women who tested positive for COVID-19 at any point during pregnancy and compared them to newborns of 2,125 unexposed women. Demographics were similar between the groups.
Overall, the total test positivity was 0.7% for exposed newborns; 1.0% tested positive on an initial test, and 0% were positive on retest. During the newborn hospital stay and a 2-week follow-up, 0% of all newborns showed clinical evidence of infection.
No significant differences were noted between exposed and unexposed newborns in clinical outcomes including gestational age, mode of delivery, 5-minute Apgar score, heart rate, respiratory rate, or temperature. Although more infants of COVID-19–exposed mothers compared with unexposed mothers had an emergency department visit within the first 14 days of life (6% vs. 3%, P = .002), none of the infants was diagnosed with COVID-19 during these visits. Cough, fever, congestion, or bilirubin were more frequent reasons for emergency department visits in the exposed infants compared with unexposed infants, but these differences were not significant.
The study findings were limited by several factors, including the retrospective design and the limited follow-up period to only the first 2 weeks of life, the researchers noted. In addition, perinatal transmission rates were available only for the 202 newborns who were followed up in the hospital system, they said. However, the results suggest that the risk of mother-to-newborn vertical transmission of COVID-19 remains low, even when mothers are breastfeeding and infants are rooming in, they concluded.
Study supports safety of rooming in
The study is important because of the value of mother and infant bonding, Karalyn Kinsella, MD, a pediatrician in Cheshire, Conn., said in an interview. “We know maternal and infant bonding and breastfeeding are extremely important in the first few days of life,” she said. “Initially, COVID-positive moms were separated from their babies during this important time.” Dr. Kinsella said she was not surprised by the study findings, as they reflect other research that newborns have not been getting infected with COVID-19 from their mothers.
Consequently, the take-home message is that newborns can room in with their mothers in the hospital setting, and they are at low risk for COVID-19 regardless of the mother’s exposure history, said Dr. Kinsella. Looking ahead, future areas of research could include examining SARS-CoV-2 antibodies in newborns, she noted.
The study received no outside funding. The researchers had no financial conflicts to disclose. Dr. Kinsella had no financial conflicts to disclose, but serves on the Pediatric News Editorial Advisory Board.
FROM PAS 2021