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Predictive value of NIPT-plus differs with maternal age
Key clinical point: Expanded noninvasive prenatal testing (NIPT-plus) is better at predicting fetal chromosome abnormalities in pregnant women of advanced maternal age (AMA) than in those of young maternal age (YMA).
Main finding: The positive predictive value of NIPT-plus in AMA pregnancies vs. YMA pregnancies was 57.6% vs. 35.7% (P < .05) for sex chromosome aneuploidies (SCA) and 77.8% vs. 51.9% (P < .05) for chromosome aneuploidies, including trisomies 21, 18, and 13, and SCAs.
Study details: The data come from a retrospective cohort study including 448 pregnant women with screen-positive results by NIPT-plus for fetal chromosome abnormality in the second trimester, who underwent prenatal diagnosis, of which 27% were AMA pregnancies.
Disclosures: The study was funded by the National Nature Science Foundation of China. None of the authors reported having a conflicts of interests.
Source: Chen Y et al. Am J Med Genet A. 2022 (Feb 2). Doi: 10.1002/ajmg.a.62657.
Key clinical point: Expanded noninvasive prenatal testing (NIPT-plus) is better at predicting fetal chromosome abnormalities in pregnant women of advanced maternal age (AMA) than in those of young maternal age (YMA).
Main finding: The positive predictive value of NIPT-plus in AMA pregnancies vs. YMA pregnancies was 57.6% vs. 35.7% (P < .05) for sex chromosome aneuploidies (SCA) and 77.8% vs. 51.9% (P < .05) for chromosome aneuploidies, including trisomies 21, 18, and 13, and SCAs.
Study details: The data come from a retrospective cohort study including 448 pregnant women with screen-positive results by NIPT-plus for fetal chromosome abnormality in the second trimester, who underwent prenatal diagnosis, of which 27% were AMA pregnancies.
Disclosures: The study was funded by the National Nature Science Foundation of China. None of the authors reported having a conflicts of interests.
Source: Chen Y et al. Am J Med Genet A. 2022 (Feb 2). Doi: 10.1002/ajmg.a.62657.
Key clinical point: Expanded noninvasive prenatal testing (NIPT-plus) is better at predicting fetal chromosome abnormalities in pregnant women of advanced maternal age (AMA) than in those of young maternal age (YMA).
Main finding: The positive predictive value of NIPT-plus in AMA pregnancies vs. YMA pregnancies was 57.6% vs. 35.7% (P < .05) for sex chromosome aneuploidies (SCA) and 77.8% vs. 51.9% (P < .05) for chromosome aneuploidies, including trisomies 21, 18, and 13, and SCAs.
Study details: The data come from a retrospective cohort study including 448 pregnant women with screen-positive results by NIPT-plus for fetal chromosome abnormality in the second trimester, who underwent prenatal diagnosis, of which 27% were AMA pregnancies.
Disclosures: The study was funded by the National Nature Science Foundation of China. None of the authors reported having a conflicts of interests.
Source: Chen Y et al. Am J Med Genet A. 2022 (Feb 2). Doi: 10.1002/ajmg.a.62657.
Exome sequencing: A tool to explore the molecular defects of callosal anomalies
Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single-center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.
Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single-center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.
Key clinical point: Diagnostic exome sequencing may enable the characterization of the molecular defects underlying unexplained callosal anomalies (CA) and potentially reduce the number of prenatally undiagnosed cases.
Main finding: A total of 17 pathogenic/likely pathogenic variants in 14 genes from 17 fetuses were identified, with the proportion of diagnostic genetic variants being 34%. Genetic variants were diagnosed in 29.4% and 43.8% of fetuses with isolated and nonisolated CA, respectively.
Study details: This single-center cohort study analyzed 50 fetuses with CA, with (n = 16) or without (n = 34) other structural abnormalities, but with normal karyotyping and chromosomal microarray analysis findings.
Disclosures: The study was sponsored by the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Project of Guangzhou Science and Technology, and Project of Guangdong Medical Science and Technology Research. No conflicts of interest were declared.
Source: Lei TY et al. Prenat Diagn. 2022 (Jan 28). Doi: 10.1002/pd.6107.
Z-sign enables distinction between a right and double aortic arch during pregnancy
Key clinical point: The Z-sign may serve as a strong marker for a double aortic arch (DAA) in surgically confirmed cases of vascular rings, even in those with atresia of the left arch, and thus facilitate the differentiation between a right aortic arch with left duct (RAA-LD) and DAA in the second trimester of pregnancy.
Main finding: The Z-sign could predict a DAA with a sensitivity of 100% (95% CI 80%-100%), specificity of 81% (95% CI 60%-92%), positive predictive value of 79% (95% CI 57%-91%), and negative predictive value of 100% (95% CI 82%-100%).
Study details: Findings are from a review of the echocardiographic features of 40 fetuses with either DAA or RAA-LD (those with the left duct connecting the pulmonary artery and descending aorta) confirmed during surgery, which displayed the commonest overlap in fetal appearances.
Disclosures: MPM Van Poppel received financial support from the Wellcome/EPSRC Centre for Medical Engineering. The other authors did not report any conflict of interests.
Source: Van Poppel MPM et al. Prenat Diagn. 2022 (Jan 20). Doi: 10.1002/pd.6104.
Key clinical point: The Z-sign may serve as a strong marker for a double aortic arch (DAA) in surgically confirmed cases of vascular rings, even in those with atresia of the left arch, and thus facilitate the differentiation between a right aortic arch with left duct (RAA-LD) and DAA in the second trimester of pregnancy.
Main finding: The Z-sign could predict a DAA with a sensitivity of 100% (95% CI 80%-100%), specificity of 81% (95% CI 60%-92%), positive predictive value of 79% (95% CI 57%-91%), and negative predictive value of 100% (95% CI 82%-100%).
Study details: Findings are from a review of the echocardiographic features of 40 fetuses with either DAA or RAA-LD (those with the left duct connecting the pulmonary artery and descending aorta) confirmed during surgery, which displayed the commonest overlap in fetal appearances.
Disclosures: MPM Van Poppel received financial support from the Wellcome/EPSRC Centre for Medical Engineering. The other authors did not report any conflict of interests.
Source: Van Poppel MPM et al. Prenat Diagn. 2022 (Jan 20). Doi: 10.1002/pd.6104.
Key clinical point: The Z-sign may serve as a strong marker for a double aortic arch (DAA) in surgically confirmed cases of vascular rings, even in those with atresia of the left arch, and thus facilitate the differentiation between a right aortic arch with left duct (RAA-LD) and DAA in the second trimester of pregnancy.
Main finding: The Z-sign could predict a DAA with a sensitivity of 100% (95% CI 80%-100%), specificity of 81% (95% CI 60%-92%), positive predictive value of 79% (95% CI 57%-91%), and negative predictive value of 100% (95% CI 82%-100%).
Study details: Findings are from a review of the echocardiographic features of 40 fetuses with either DAA or RAA-LD (those with the left duct connecting the pulmonary artery and descending aorta) confirmed during surgery, which displayed the commonest overlap in fetal appearances.
Disclosures: MPM Van Poppel received financial support from the Wellcome/EPSRC Centre for Medical Engineering. The other authors did not report any conflict of interests.
Source: Van Poppel MPM et al. Prenat Diagn. 2022 (Jan 20). Doi: 10.1002/pd.6104.
Risk for pathogenic chromosomal aberrations and CNVs in fetal CGIO
Key clinical point: Fetuses with complicated congenital gastrointestinal obstruction (CGIO) vs. isolated CGIO are at a greater risk for chromosomal aberrations and pathogenic copy number variants (CNV).
Main finding: Fetuses with complicated CGIO showed a significantly higher detection rate of karyotype abnormalities (33.8% vs. 10.8%; P < .01) and overall detection rate of pathogenic CNVs (20% vs. 4.8%; P < .05) than those with isolated CGIO.
Study details: This retrospective study analyzed 240 fetuses prenatally diagnosed with CGIO who presented as either isolated (alone) or complicated (in combination with certain soft markers and structural abnormalities) and were referred for karyotyping or copy number variation sequencing.
Disclosures: No source of funding or conflict of interests were reported by the authors.
Source: Meng X, Jiang L. BMC Pregnancy Childbirth. 2022;22:50 (Jan 19). Doi: 10.1186/s12884-022-04401-y.
Key clinical point: Fetuses with complicated congenital gastrointestinal obstruction (CGIO) vs. isolated CGIO are at a greater risk for chromosomal aberrations and pathogenic copy number variants (CNV).
Main finding: Fetuses with complicated CGIO showed a significantly higher detection rate of karyotype abnormalities (33.8% vs. 10.8%; P < .01) and overall detection rate of pathogenic CNVs (20% vs. 4.8%; P < .05) than those with isolated CGIO.
Study details: This retrospective study analyzed 240 fetuses prenatally diagnosed with CGIO who presented as either isolated (alone) or complicated (in combination with certain soft markers and structural abnormalities) and were referred for karyotyping or copy number variation sequencing.
Disclosures: No source of funding or conflict of interests were reported by the authors.
Source: Meng X, Jiang L. BMC Pregnancy Childbirth. 2022;22:50 (Jan 19). Doi: 10.1186/s12884-022-04401-y.
Key clinical point: Fetuses with complicated congenital gastrointestinal obstruction (CGIO) vs. isolated CGIO are at a greater risk for chromosomal aberrations and pathogenic copy number variants (CNV).
Main finding: Fetuses with complicated CGIO showed a significantly higher detection rate of karyotype abnormalities (33.8% vs. 10.8%; P < .01) and overall detection rate of pathogenic CNVs (20% vs. 4.8%; P < .05) than those with isolated CGIO.
Study details: This retrospective study analyzed 240 fetuses prenatally diagnosed with CGIO who presented as either isolated (alone) or complicated (in combination with certain soft markers and structural abnormalities) and were referred for karyotyping or copy number variation sequencing.
Disclosures: No source of funding or conflict of interests were reported by the authors.
Source: Meng X, Jiang L. BMC Pregnancy Childbirth. 2022;22:50 (Jan 19). Doi: 10.1186/s12884-022-04401-y.
An ultrasound strategy for improving the prenatal detection of placenta accreta spectrum
Key clinical point: Ultrasound evaluation performed following a standardized protocol is highly effective at detecting placenta accreta spectrum (PAS) in pregnant women with persistent placenta previa under real-world conditions.
Main finding: Of 126 patients with placenta previa, PAS was detected in 11 patients, of which 10 were diagnosed prenatally by ultrasound, exhibiting a sensitivity of 90.9%, specificity of 98.3%, positive predictive value of 83.3%, and negative predictive value of 99.1%.
Study details: This was a retrospective real-world cohort study involving 126 pregnant women with persistent placenta previa who underwent standardized transabdominal and transvaginal ultrasound to assess hypoechoic retroplacental zone loss or myometrial thinning <1 mm, lacunar images (flow >15 cm/second), thick and bulging placenta, uterine-bladder serous interface thinning/interruption, and placental/uterovesical hypervascularity; the presence of at least 1 was considered high-risk for PAS.
Disclosures: The authors disclosed receiving no financial support for the study and having no conflict of interests.
Source: Juan-Clar M et al. Fetal Diagn Ther. 2022 (Jan 11). Doi: 10.1159/000521738.
Key clinical point: Ultrasound evaluation performed following a standardized protocol is highly effective at detecting placenta accreta spectrum (PAS) in pregnant women with persistent placenta previa under real-world conditions.
Main finding: Of 126 patients with placenta previa, PAS was detected in 11 patients, of which 10 were diagnosed prenatally by ultrasound, exhibiting a sensitivity of 90.9%, specificity of 98.3%, positive predictive value of 83.3%, and negative predictive value of 99.1%.
Study details: This was a retrospective real-world cohort study involving 126 pregnant women with persistent placenta previa who underwent standardized transabdominal and transvaginal ultrasound to assess hypoechoic retroplacental zone loss or myometrial thinning <1 mm, lacunar images (flow >15 cm/second), thick and bulging placenta, uterine-bladder serous interface thinning/interruption, and placental/uterovesical hypervascularity; the presence of at least 1 was considered high-risk for PAS.
Disclosures: The authors disclosed receiving no financial support for the study and having no conflict of interests.
Source: Juan-Clar M et al. Fetal Diagn Ther. 2022 (Jan 11). Doi: 10.1159/000521738.
Key clinical point: Ultrasound evaluation performed following a standardized protocol is highly effective at detecting placenta accreta spectrum (PAS) in pregnant women with persistent placenta previa under real-world conditions.
Main finding: Of 126 patients with placenta previa, PAS was detected in 11 patients, of which 10 were diagnosed prenatally by ultrasound, exhibiting a sensitivity of 90.9%, specificity of 98.3%, positive predictive value of 83.3%, and negative predictive value of 99.1%.
Study details: This was a retrospective real-world cohort study involving 126 pregnant women with persistent placenta previa who underwent standardized transabdominal and transvaginal ultrasound to assess hypoechoic retroplacental zone loss or myometrial thinning <1 mm, lacunar images (flow >15 cm/second), thick and bulging placenta, uterine-bladder serous interface thinning/interruption, and placental/uterovesical hypervascularity; the presence of at least 1 was considered high-risk for PAS.
Disclosures: The authors disclosed receiving no financial support for the study and having no conflict of interests.
Source: Juan-Clar M et al. Fetal Diagn Ther. 2022 (Jan 11). Doi: 10.1159/000521738.
Prenatal diagnosis of neurocognitive disorders: Going beyond what’s currently indicated
Key clinical point: Performing prenatal exome sequencing (ES) not solely for the indication of fetal malformations but also for specific prenatal findings, such as fetal growth restriction and polyhydramnios, could avoid missing the diagnosis of postnatal neurocognitive disorders.
Main finding: Sonographic fetal structural findings of 52.5% of patients with postnatally diagnosed neurocognitive disorders did not hint at considering prenatal ES. Fetal structural abnormalities and other sonographic anomalies (fetal growth restriction, polyhydramnios, etc.) were shown by 23.75% of patients.
Study details: Findings are from a retrospective study that analyzed the prenatal sonographic data of 122 patients with postnatally diagnosed neurocognitive disorder using ES.
Disclosures: The authors received no financial support for conducting the study. AR Shuldiner disclosed being a full-time employee of and receiving salary and stock options from Regeneron Pharmaceuticals. C Gonzaga-Jauregui was a full-time employee of Regeneron Pharmaceuticals at the time of the study.
Source: Sukenik-Halevy R et al. Prenat Diagn. 2022 (Jan 14). Doi: 10.1002/pd.6095.
Key clinical point: Performing prenatal exome sequencing (ES) not solely for the indication of fetal malformations but also for specific prenatal findings, such as fetal growth restriction and polyhydramnios, could avoid missing the diagnosis of postnatal neurocognitive disorders.
Main finding: Sonographic fetal structural findings of 52.5% of patients with postnatally diagnosed neurocognitive disorders did not hint at considering prenatal ES. Fetal structural abnormalities and other sonographic anomalies (fetal growth restriction, polyhydramnios, etc.) were shown by 23.75% of patients.
Study details: Findings are from a retrospective study that analyzed the prenatal sonographic data of 122 patients with postnatally diagnosed neurocognitive disorder using ES.
Disclosures: The authors received no financial support for conducting the study. AR Shuldiner disclosed being a full-time employee of and receiving salary and stock options from Regeneron Pharmaceuticals. C Gonzaga-Jauregui was a full-time employee of Regeneron Pharmaceuticals at the time of the study.
Source: Sukenik-Halevy R et al. Prenat Diagn. 2022 (Jan 14). Doi: 10.1002/pd.6095.
Key clinical point: Performing prenatal exome sequencing (ES) not solely for the indication of fetal malformations but also for specific prenatal findings, such as fetal growth restriction and polyhydramnios, could avoid missing the diagnosis of postnatal neurocognitive disorders.
Main finding: Sonographic fetal structural findings of 52.5% of patients with postnatally diagnosed neurocognitive disorders did not hint at considering prenatal ES. Fetal structural abnormalities and other sonographic anomalies (fetal growth restriction, polyhydramnios, etc.) were shown by 23.75% of patients.
Study details: Findings are from a retrospective study that analyzed the prenatal sonographic data of 122 patients with postnatally diagnosed neurocognitive disorder using ES.
Disclosures: The authors received no financial support for conducting the study. AR Shuldiner disclosed being a full-time employee of and receiving salary and stock options from Regeneron Pharmaceuticals. C Gonzaga-Jauregui was a full-time employee of Regeneron Pharmaceuticals at the time of the study.
Source: Sukenik-Halevy R et al. Prenat Diagn. 2022 (Jan 14). Doi: 10.1002/pd.6095.
Fetuses with cerebral blood flow redistribution are susceptible to adverse perinatal outcomes
Key clinical point: Fetal cerebral blood flow redistribution assessed by antenatal Doppler scanning is a strong and independent indicator of a composite adverse perinatal outcome (CAPO) and stillbirth in low-resource settings.
Main finding: Middle cerebral artery pulsatility index (PI) <5th percentile (adjusted odds ratio [aOR] 2.08; P = .013), cerebroplacental ratio (CPR) <5th percentile (aOR 2.22; P = .02), and uterine artery PI >95th percentile (aOR 2.36; P = .041) showed a significant association with CAPO. CPR <5th percentile was significantly associated with stillbirth (aOR 4.82; P = .038).
Study details: Findings are from a single-center prospective cohort study including 995 singleton pregnant women who enrolled in antenatal care after <24 weeks of pregnancy and showed no obvious fetal abnormalities on an antenatal ultrasound scan.
Disclosures: The study was sponsored by Grand Challenges Canada and University Medical Center Utrecht, The Netherlands. No conflict of interests was reported.
Source: Ali S et al. BJOG. 2022 (Feb 4). Doi: 10.1111/1471-0528.17115.
Key clinical point: Fetal cerebral blood flow redistribution assessed by antenatal Doppler scanning is a strong and independent indicator of a composite adverse perinatal outcome (CAPO) and stillbirth in low-resource settings.
Main finding: Middle cerebral artery pulsatility index (PI) <5th percentile (adjusted odds ratio [aOR] 2.08; P = .013), cerebroplacental ratio (CPR) <5th percentile (aOR 2.22; P = .02), and uterine artery PI >95th percentile (aOR 2.36; P = .041) showed a significant association with CAPO. CPR <5th percentile was significantly associated with stillbirth (aOR 4.82; P = .038).
Study details: Findings are from a single-center prospective cohort study including 995 singleton pregnant women who enrolled in antenatal care after <24 weeks of pregnancy and showed no obvious fetal abnormalities on an antenatal ultrasound scan.
Disclosures: The study was sponsored by Grand Challenges Canada and University Medical Center Utrecht, The Netherlands. No conflict of interests was reported.
Source: Ali S et al. BJOG. 2022 (Feb 4). Doi: 10.1111/1471-0528.17115.
Key clinical point: Fetal cerebral blood flow redistribution assessed by antenatal Doppler scanning is a strong and independent indicator of a composite adverse perinatal outcome (CAPO) and stillbirth in low-resource settings.
Main finding: Middle cerebral artery pulsatility index (PI) <5th percentile (adjusted odds ratio [aOR] 2.08; P = .013), cerebroplacental ratio (CPR) <5th percentile (aOR 2.22; P = .02), and uterine artery PI >95th percentile (aOR 2.36; P = .041) showed a significant association with CAPO. CPR <5th percentile was significantly associated with stillbirth (aOR 4.82; P = .038).
Study details: Findings are from a single-center prospective cohort study including 995 singleton pregnant women who enrolled in antenatal care after <24 weeks of pregnancy and showed no obvious fetal abnormalities on an antenatal ultrasound scan.
Disclosures: The study was sponsored by Grand Challenges Canada and University Medical Center Utrecht, The Netherlands. No conflict of interests was reported.
Source: Ali S et al. BJOG. 2022 (Feb 4). Doi: 10.1111/1471-0528.17115.
cfDNA screening for the common trisomies performs well in low-risk pregnancies
Key clinical point: In women at low risk for aneuploidy, single-nucleotide polymorphism-based cell-free DNA (cfDNA) screening for trisomies 21, 18, and 13 (T21, T18, T13, respectively) demonstrates similar high sensitivity, specificity, and positive predictive value (PPV) as those in high-risk women.
Main finding: In low-risk vs. high-risk women, T21 was detected with similar sensitivity (100% vs. 98.8%; P = 1.0), specificity (99.98% vs. 99.96%; P = .61), and a high PPV (85.71% vs. 97.53%; P = .06), with analogous results for T18 and T13.
Study details: Findings are from a multicenter, prospective, observational SMART study including 17,851 pregnant women undergoing cfDNA screening for aneuploidy and 22q11.2DS, along with DNA analysis of the fetus or newborn. Of these, 13,043 pregnancies were at low risk for aneuploidy, with the rest being high risk.
Disclosures: The study was funded by Natera, Inc, CA, USA. Some of the authors, including the lead author, received institutional research support from Natera. M Egbert, Z Demko, M Rabinowitz, and K Martin serve as an employee/consultant of Natera and own stocks/options. J Hyett has participated in expert consultancies for and B Jacobson reports research clinical diagnostic trials with Natera, among others.
Source: Dar P et al. Am J Obstet Gynecol. 2022 (Jan 24). Doi: 10.1016/j.ajog.2022.01.019.
Key clinical point: In women at low risk for aneuploidy, single-nucleotide polymorphism-based cell-free DNA (cfDNA) screening for trisomies 21, 18, and 13 (T21, T18, T13, respectively) demonstrates similar high sensitivity, specificity, and positive predictive value (PPV) as those in high-risk women.
Main finding: In low-risk vs. high-risk women, T21 was detected with similar sensitivity (100% vs. 98.8%; P = 1.0), specificity (99.98% vs. 99.96%; P = .61), and a high PPV (85.71% vs. 97.53%; P = .06), with analogous results for T18 and T13.
Study details: Findings are from a multicenter, prospective, observational SMART study including 17,851 pregnant women undergoing cfDNA screening for aneuploidy and 22q11.2DS, along with DNA analysis of the fetus or newborn. Of these, 13,043 pregnancies were at low risk for aneuploidy, with the rest being high risk.
Disclosures: The study was funded by Natera, Inc, CA, USA. Some of the authors, including the lead author, received institutional research support from Natera. M Egbert, Z Demko, M Rabinowitz, and K Martin serve as an employee/consultant of Natera and own stocks/options. J Hyett has participated in expert consultancies for and B Jacobson reports research clinical diagnostic trials with Natera, among others.
Source: Dar P et al. Am J Obstet Gynecol. 2022 (Jan 24). Doi: 10.1016/j.ajog.2022.01.019.
Key clinical point: In women at low risk for aneuploidy, single-nucleotide polymorphism-based cell-free DNA (cfDNA) screening for trisomies 21, 18, and 13 (T21, T18, T13, respectively) demonstrates similar high sensitivity, specificity, and positive predictive value (PPV) as those in high-risk women.
Main finding: In low-risk vs. high-risk women, T21 was detected with similar sensitivity (100% vs. 98.8%; P = 1.0), specificity (99.98% vs. 99.96%; P = .61), and a high PPV (85.71% vs. 97.53%; P = .06), with analogous results for T18 and T13.
Study details: Findings are from a multicenter, prospective, observational SMART study including 17,851 pregnant women undergoing cfDNA screening for aneuploidy and 22q11.2DS, along with DNA analysis of the fetus or newborn. Of these, 13,043 pregnancies were at low risk for aneuploidy, with the rest being high risk.
Disclosures: The study was funded by Natera, Inc, CA, USA. Some of the authors, including the lead author, received institutional research support from Natera. M Egbert, Z Demko, M Rabinowitz, and K Martin serve as an employee/consultant of Natera and own stocks/options. J Hyett has participated in expert consultancies for and B Jacobson reports research clinical diagnostic trials with Natera, among others.
Source: Dar P et al. Am J Obstet Gynecol. 2022 (Jan 24). Doi: 10.1016/j.ajog.2022.01.019.
Tips for connecting with your patients
It is a tough time to be a doctor. With the stresses of the pandemic, the continued unfettered rise of insurance company BS, and so many medical groups being bought up that we often don’t even know who makes the decisions, the patient can sometimes be hidden in the equation.
Be curious
When physicians are curious about why patients have symptoms, how those symptoms will affect their lives, and how worried the patient is about them, patients feel cared about.
Ascertaining how concerned patients are about their symptoms will help you make decisions on whether symptoms you are not concerned about actually need to be treated.
Limit use of EHRs when possible
Use of the electronic health record during visits is essential, but focusing on it too much can put a barrier between the physician and the patient.
Marmor and colleagues found there is an inverse relationship between time spent on the EHR by a patient’s physician and the patient’s satisfaction.1
Eye contact with the patient is important, especially when patients are sharing concerns they are scared about and upsetting experiences. There can be awkward pauses when looking things up on the EHR. Fill those pauses by explaining to the patient what you are doing, or chatting with the patient.
Consider teaching medical students
When a medical student works with you, it doubles the time the patient gets with a concerned listener. Students also can do a great job with timely follow-up and checking in with worried patients.
By having the student present in the clinic room, with the patient present, the patient can really feel heard. The student shares all the details the patient shared, and now their physician is hearing an organized, thoughtful report of the patients concerns.
In fact, I was involved in a study that showed that patients preferred in room presentations, and that they were more satisfied when students presented in the room.2
Use healing words
Some words carry loaded emotions. The word chronic, for example, has negative connotations, whereas the term persisting does not.
I will often ask patients how long they have been suffering from a symptom to imply my concern for what they are going through. The term “chief complaint” is outdated, and upsets patients when they see it in their medical record.
As a patient of mine once said to me: “I never complained about that problem, I just brought it to your attention.” No one wants to be seen as a complainer. Substituting the word concern for complaint works well.
Explain as you examine
People love to hear the term normal. When you are examining a patient, let them know when findings are normal.
I also find it helpful to explain to patients why I am doing certain physical exam maneuvers. This helps them assess how thorough we are in our thought process.
When patients feel their physicians are thorough, they have more confidence in them.
In summary
- Be curious.
- Do not overly focus on the EHR.
- Consider teaching a medical student.
- Be careful of word choice.
- “Overexplain” the physical exam.
Dr. Paauw is professor of medicine in the division of general internal medicine at the University of Washington, Seattle, and serves as 3rd-year medical student clerkship director at the University of Washington. He is a member of the editorial advisory board of Internal Medicine News. Dr. Paauw has no conflicts to disclose. Contact him at [email protected].
References
1. Marmor RA et al. Appl Clin Inform. 2018 Jan;9(1):11-4.
2. Rogers HD et al. Acad Med. 2003 Sep;78(9):945-9.
It is a tough time to be a doctor. With the stresses of the pandemic, the continued unfettered rise of insurance company BS, and so many medical groups being bought up that we often don’t even know who makes the decisions, the patient can sometimes be hidden in the equation.
Be curious
When physicians are curious about why patients have symptoms, how those symptoms will affect their lives, and how worried the patient is about them, patients feel cared about.
Ascertaining how concerned patients are about their symptoms will help you make decisions on whether symptoms you are not concerned about actually need to be treated.
Limit use of EHRs when possible
Use of the electronic health record during visits is essential, but focusing on it too much can put a barrier between the physician and the patient.
Marmor and colleagues found there is an inverse relationship between time spent on the EHR by a patient’s physician and the patient’s satisfaction.1
Eye contact with the patient is important, especially when patients are sharing concerns they are scared about and upsetting experiences. There can be awkward pauses when looking things up on the EHR. Fill those pauses by explaining to the patient what you are doing, or chatting with the patient.
Consider teaching medical students
When a medical student works with you, it doubles the time the patient gets with a concerned listener. Students also can do a great job with timely follow-up and checking in with worried patients.
By having the student present in the clinic room, with the patient present, the patient can really feel heard. The student shares all the details the patient shared, and now their physician is hearing an organized, thoughtful report of the patients concerns.
In fact, I was involved in a study that showed that patients preferred in room presentations, and that they were more satisfied when students presented in the room.2
Use healing words
Some words carry loaded emotions. The word chronic, for example, has negative connotations, whereas the term persisting does not.
I will often ask patients how long they have been suffering from a symptom to imply my concern for what they are going through. The term “chief complaint” is outdated, and upsets patients when they see it in their medical record.
As a patient of mine once said to me: “I never complained about that problem, I just brought it to your attention.” No one wants to be seen as a complainer. Substituting the word concern for complaint works well.
Explain as you examine
People love to hear the term normal. When you are examining a patient, let them know when findings are normal.
I also find it helpful to explain to patients why I am doing certain physical exam maneuvers. This helps them assess how thorough we are in our thought process.
When patients feel their physicians are thorough, they have more confidence in them.
In summary
- Be curious.
- Do not overly focus on the EHR.
- Consider teaching a medical student.
- Be careful of word choice.
- “Overexplain” the physical exam.
Dr. Paauw is professor of medicine in the division of general internal medicine at the University of Washington, Seattle, and serves as 3rd-year medical student clerkship director at the University of Washington. He is a member of the editorial advisory board of Internal Medicine News. Dr. Paauw has no conflicts to disclose. Contact him at [email protected].
References
1. Marmor RA et al. Appl Clin Inform. 2018 Jan;9(1):11-4.
2. Rogers HD et al. Acad Med. 2003 Sep;78(9):945-9.
It is a tough time to be a doctor. With the stresses of the pandemic, the continued unfettered rise of insurance company BS, and so many medical groups being bought up that we often don’t even know who makes the decisions, the patient can sometimes be hidden in the equation.
Be curious
When physicians are curious about why patients have symptoms, how those symptoms will affect their lives, and how worried the patient is about them, patients feel cared about.
Ascertaining how concerned patients are about their symptoms will help you make decisions on whether symptoms you are not concerned about actually need to be treated.
Limit use of EHRs when possible
Use of the electronic health record during visits is essential, but focusing on it too much can put a barrier between the physician and the patient.
Marmor and colleagues found there is an inverse relationship between time spent on the EHR by a patient’s physician and the patient’s satisfaction.1
Eye contact with the patient is important, especially when patients are sharing concerns they are scared about and upsetting experiences. There can be awkward pauses when looking things up on the EHR. Fill those pauses by explaining to the patient what you are doing, or chatting with the patient.
Consider teaching medical students
When a medical student works with you, it doubles the time the patient gets with a concerned listener. Students also can do a great job with timely follow-up and checking in with worried patients.
By having the student present in the clinic room, with the patient present, the patient can really feel heard. The student shares all the details the patient shared, and now their physician is hearing an organized, thoughtful report of the patients concerns.
In fact, I was involved in a study that showed that patients preferred in room presentations, and that they were more satisfied when students presented in the room.2
Use healing words
Some words carry loaded emotions. The word chronic, for example, has negative connotations, whereas the term persisting does not.
I will often ask patients how long they have been suffering from a symptom to imply my concern for what they are going through. The term “chief complaint” is outdated, and upsets patients when they see it in their medical record.
As a patient of mine once said to me: “I never complained about that problem, I just brought it to your attention.” No one wants to be seen as a complainer. Substituting the word concern for complaint works well.
Explain as you examine
People love to hear the term normal. When you are examining a patient, let them know when findings are normal.
I also find it helpful to explain to patients why I am doing certain physical exam maneuvers. This helps them assess how thorough we are in our thought process.
When patients feel their physicians are thorough, they have more confidence in them.
In summary
- Be curious.
- Do not overly focus on the EHR.
- Consider teaching a medical student.
- Be careful of word choice.
- “Overexplain” the physical exam.
Dr. Paauw is professor of medicine in the division of general internal medicine at the University of Washington, Seattle, and serves as 3rd-year medical student clerkship director at the University of Washington. He is a member of the editorial advisory board of Internal Medicine News. Dr. Paauw has no conflicts to disclose. Contact him at [email protected].
References
1. Marmor RA et al. Appl Clin Inform. 2018 Jan;9(1):11-4.
2. Rogers HD et al. Acad Med. 2003 Sep;78(9):945-9.
Seizure phobia stands out in epilepsy patients
Anxiety and depression are known to affect quality of life in epilepsy patients, and previous studies have shown that anticipatory anxiety of epileptic seizures (AAS) was present in 53% of patients with focal epilepsy, wrote lead author Aviva Weiss of Psychiatric Hostels affiliated with Kidum Rehabilitation Projects, Jerusalem, and colleagues.
“Although recognized by the epilepsy and the psychiatric communities, seizure phobia as a distinct anxiety disorder among PWE is insufficiently described in the medical literature,” they said.
Seizure phobia has been defined as an anxiety disorder in which patients experience fear related to anticipation of seizures in certain situations.
In a study published in Seizure: European Journal of Epilepsy, the researchers recruited 69 PWE who were treated at an outpatient clinic. Data were collected from interviews, questionnaires, and medical records. The average age of the participants was 36.8 years, 41 were women, and 41 were married.
Overall, 19 individuals (27.5%) were diagnosed with seizure phobia. Compared with PWE without seizure phobia, the seizure phobia patients were significantly more likely to be women (84.2% vs. 44.2%; P = .005) and to have comorbid anxiety disorders (84.2% vs. 34.9%; P = .01). Individuals with seizure phobia also were significantly more likely than those without seizure phobia to have a past major depressive episode (63.2% vs. 20.9%; P = .003), and posttraumatic stress disorder (26.3% vs. 7%; P = .05).
Seizure phobia was significantly associated with comorbid psychogenic nonepileptic seizures (PNES) (36.8% vs. 11.6%; P = .034). PNES have been significantly associated with panic attacks, and “all patients with both panic attacks and comorbid PNES were diagnosed with seizure phobia,” the researchers noted. However, no significant association was found with epilepsy-related variables, they said.
A multivariate logistic regression model to predict seizure phobia showed that anxiety and a past MDE were significant predictors; the odds of seizure phobia were 10.45 times higher if a patient reported any anxiety disorder, and 6.85 times higher if the patient had a history of MDE.
The study findings were limited by several factors, including the use of semistructured interviews to diagnose seizure phobia, which are subject to interviewer bias, and by the small study population with a high proportion of comorbid PNES and epilepsy, the researchers noted. However, the results support seizure phobia as a distinct clinical entity worthy of management with education, psychosocial interventions, and potential medication changes, they said.
“Development of appropriate screening tools and implementation of effective treatment interventions is warranted for individual patients, combined with large-scale population-targeted psychoeducation, aimed to mitigate the risk of developing seizure phobia in PWE,” they concluded.
The study received no outside funding. The researchers had no financial conflicts to disclose.
Anxiety and depression are known to affect quality of life in epilepsy patients, and previous studies have shown that anticipatory anxiety of epileptic seizures (AAS) was present in 53% of patients with focal epilepsy, wrote lead author Aviva Weiss of Psychiatric Hostels affiliated with Kidum Rehabilitation Projects, Jerusalem, and colleagues.
“Although recognized by the epilepsy and the psychiatric communities, seizure phobia as a distinct anxiety disorder among PWE is insufficiently described in the medical literature,” they said.
Seizure phobia has been defined as an anxiety disorder in which patients experience fear related to anticipation of seizures in certain situations.
In a study published in Seizure: European Journal of Epilepsy, the researchers recruited 69 PWE who were treated at an outpatient clinic. Data were collected from interviews, questionnaires, and medical records. The average age of the participants was 36.8 years, 41 were women, and 41 were married.
Overall, 19 individuals (27.5%) were diagnosed with seizure phobia. Compared with PWE without seizure phobia, the seizure phobia patients were significantly more likely to be women (84.2% vs. 44.2%; P = .005) and to have comorbid anxiety disorders (84.2% vs. 34.9%; P = .01). Individuals with seizure phobia also were significantly more likely than those without seizure phobia to have a past major depressive episode (63.2% vs. 20.9%; P = .003), and posttraumatic stress disorder (26.3% vs. 7%; P = .05).
Seizure phobia was significantly associated with comorbid psychogenic nonepileptic seizures (PNES) (36.8% vs. 11.6%; P = .034). PNES have been significantly associated with panic attacks, and “all patients with both panic attacks and comorbid PNES were diagnosed with seizure phobia,” the researchers noted. However, no significant association was found with epilepsy-related variables, they said.
A multivariate logistic regression model to predict seizure phobia showed that anxiety and a past MDE were significant predictors; the odds of seizure phobia were 10.45 times higher if a patient reported any anxiety disorder, and 6.85 times higher if the patient had a history of MDE.
The study findings were limited by several factors, including the use of semistructured interviews to diagnose seizure phobia, which are subject to interviewer bias, and by the small study population with a high proportion of comorbid PNES and epilepsy, the researchers noted. However, the results support seizure phobia as a distinct clinical entity worthy of management with education, psychosocial interventions, and potential medication changes, they said.
“Development of appropriate screening tools and implementation of effective treatment interventions is warranted for individual patients, combined with large-scale population-targeted psychoeducation, aimed to mitigate the risk of developing seizure phobia in PWE,” they concluded.
The study received no outside funding. The researchers had no financial conflicts to disclose.
Anxiety and depression are known to affect quality of life in epilepsy patients, and previous studies have shown that anticipatory anxiety of epileptic seizures (AAS) was present in 53% of patients with focal epilepsy, wrote lead author Aviva Weiss of Psychiatric Hostels affiliated with Kidum Rehabilitation Projects, Jerusalem, and colleagues.
“Although recognized by the epilepsy and the psychiatric communities, seizure phobia as a distinct anxiety disorder among PWE is insufficiently described in the medical literature,” they said.
Seizure phobia has been defined as an anxiety disorder in which patients experience fear related to anticipation of seizures in certain situations.
In a study published in Seizure: European Journal of Epilepsy, the researchers recruited 69 PWE who were treated at an outpatient clinic. Data were collected from interviews, questionnaires, and medical records. The average age of the participants was 36.8 years, 41 were women, and 41 were married.
Overall, 19 individuals (27.5%) were diagnosed with seizure phobia. Compared with PWE without seizure phobia, the seizure phobia patients were significantly more likely to be women (84.2% vs. 44.2%; P = .005) and to have comorbid anxiety disorders (84.2% vs. 34.9%; P = .01). Individuals with seizure phobia also were significantly more likely than those without seizure phobia to have a past major depressive episode (63.2% vs. 20.9%; P = .003), and posttraumatic stress disorder (26.3% vs. 7%; P = .05).
Seizure phobia was significantly associated with comorbid psychogenic nonepileptic seizures (PNES) (36.8% vs. 11.6%; P = .034). PNES have been significantly associated with panic attacks, and “all patients with both panic attacks and comorbid PNES were diagnosed with seizure phobia,” the researchers noted. However, no significant association was found with epilepsy-related variables, they said.
A multivariate logistic regression model to predict seizure phobia showed that anxiety and a past MDE were significant predictors; the odds of seizure phobia were 10.45 times higher if a patient reported any anxiety disorder, and 6.85 times higher if the patient had a history of MDE.
The study findings were limited by several factors, including the use of semistructured interviews to diagnose seizure phobia, which are subject to interviewer bias, and by the small study population with a high proportion of comorbid PNES and epilepsy, the researchers noted. However, the results support seizure phobia as a distinct clinical entity worthy of management with education, psychosocial interventions, and potential medication changes, they said.
“Development of appropriate screening tools and implementation of effective treatment interventions is warranted for individual patients, combined with large-scale population-targeted psychoeducation, aimed to mitigate the risk of developing seizure phobia in PWE,” they concluded.
The study received no outside funding. The researchers had no financial conflicts to disclose.
FROM SEIZURE: EUROPEAN JOURNAL OF EPILEPSY