One of the unexpected consequences of the pandemic is that many people are rethinking their priorities and lifestyles, and physicians are no exception.

This year’s Medscape Physician Lifestyle and Happiness Report surveyed more than 10,000 physicians in 29 specialties about how they are prioritizing wellness, work-life balance, and their family lives during this challenging time.

Pets, prayer, and partners

The pandemic has taken a toll on physicians outside of work as well as on the job. Eight in 10 physicians (82% of men and 80% of women) said they were “somewhat” or “very” happy outside of work before the pandemic. This is almost exactly the same result as in last year’s survey.

However, when asked how happy they are outside of work currently, only 6 in 10 (59%) reported being “somewhat” or “very” happy. While the pandemic has made life difficult for everyone, health care professionals face particular stresses even outside of work. Wayne M. Sotile, PhD, founder of the Center for Physician Resilience, says he has counseled doctors who witnessed COVID-related suffering and death at work, then came home to a partner who didn’t believe that the pandemic was real.

Still, physicians reported that spending time with people they love and engaging in favorite activities helps them stay happy. “Spending time with pets” and “religious practice/prayer” were frequent “other” responses to the question, “What do you do to maintain happiness and mental health?” Seven in 10 physicians reported having some kind of religious or spiritual beliefs.

The majority of physicians (83%) are either married or living with a partner, with male physicians edging out their female peers (89% vs. 75%). Among married physicians, 8 in 10 physicians reported that their union is “good” or “very good.” The pandemic may have helped in this respect. Dr. Sotile says he’s heard physicians say that they’ve connected more with their families in the past 18 months. Specialists with the highest rates of happy marriages were otolaryngologists and immunologists (both 91%), followed closely by dermatologists, rheumatologists, and nephrologists (all 90%).

Among physicians balancing a medical career and parenthood, female physicians reported feeling conflicted more often than males (48% vs. 29%). Nicole A. Sparks, MD, an ob.gyn. and a health and lifestyle blogger, cites not being there for her kids as a source of stress. She notes that her two young children notice when she’s not there to help with homework, read bedtime stories, or make their dinner. “Mom guilt can definitely set in if I have to miss important events,” she says.

Work-life balance is an important, if elusive, goal for physicians, and not just females. Sixty percent of female doctors and 53% of male doctors said they would be willing to take a cut in pay if it meant more free time and a better work-life balance. Many doctors do manage to get away from work occasionally, with one-fifth of all physicians taking 5 or more weeks of vacation each year.

Seeking a ‘balanced life’

Alexis Polles, MD, medical director for the Professionals Resource Network, points out the importance of taking time for personal health and wellness. “When we work with professionals who have problems with mental health or substance abuse, they often don’t have a balanced life,” she says. “They are usually in a workaholic mindset and disregard their own needs.”

Few physicians seem to prioritize self-care, with a third indicating they “always” or “most of the time” spend enough time on their own health and wellness. But of those who do, males (38%) are more likely than females (27%) to spend enough time on their own health and wellness. Dr. Polles adds that exercising after a shift can help physicians better make the transition from professional to personal life. Though they did not report when they exercised, about a third of physicians reported doing so four or more times per week. Controlling weight is an issue as well, with 49% of male and 55% of female physicians saying they are currently trying to lose weight.

Of physicians who drink alcohol, about a third have three or more drinks per week. (The CDC defines “heavy drinking” as consuming 15 drinks or more per week for men and eight drinks or more per week for women.)

Of those surveyed, 92% say they do not regularly use cannabidiol or cannabis, and a mere 4% of respondents said they would use at least one of these substances if they were to become legal in their state.

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

One of the unexpected consequences of the pandemic is that many people are rethinking their priorities and lifestyles, and physicians are no exception.

This year’s Medscape Physician Lifestyle and Happiness Report surveyed more than 10,000 physicians in 29 specialties about how they are prioritizing wellness, work-life balance, and their family lives during this challenging time.

Pets, prayer, and partners

The pandemic has taken a toll on physicians outside of work as well as on the job. Eight in 10 physicians (82% of men and 80% of women) said they were “somewhat” or “very” happy outside of work before the pandemic. This is almost exactly the same result as in last year’s survey.

However, when asked how happy they are outside of work currently, only 6 in 10 (59%) reported being “somewhat” or “very” happy. While the pandemic has made life difficult for everyone, health care professionals face particular stresses even outside of work. Wayne M. Sotile, PhD, founder of the Center for Physician Resilience, says he has counseled doctors who witnessed COVID-related suffering and death at work, then came home to a partner who didn’t believe that the pandemic was real.

Still, physicians reported that spending time with people they love and engaging in favorite activities helps them stay happy. “Spending time with pets” and “religious practice/prayer” were frequent “other” responses to the question, “What do you do to maintain happiness and mental health?” Seven in 10 physicians reported having some kind of religious or spiritual beliefs.

The majority of physicians (83%) are either married or living with a partner, with male physicians edging out their female peers (89% vs. 75%). Among married physicians, 8 in 10 physicians reported that their union is “good” or “very good.” The pandemic may have helped in this respect. Dr. Sotile says he’s heard physicians say that they’ve connected more with their families in the past 18 months. Specialists with the highest rates of happy marriages were otolaryngologists and immunologists (both 91%), followed closely by dermatologists, rheumatologists, and nephrologists (all 90%).

Among physicians balancing a medical career and parenthood, female physicians reported feeling conflicted more often than males (48% vs. 29%). Nicole A. Sparks, MD, an ob.gyn. and a health and lifestyle blogger, cites not being there for her kids as a source of stress. She notes that her two young children notice when she’s not there to help with homework, read bedtime stories, or make their dinner. “Mom guilt can definitely set in if I have to miss important events,” she says.

Work-life balance is an important, if elusive, goal for physicians, and not just females. Sixty percent of female doctors and 53% of male doctors said they would be willing to take a cut in pay if it meant more free time and a better work-life balance. Many doctors do manage to get away from work occasionally, with one-fifth of all physicians taking 5 or more weeks of vacation each year.

Seeking a ‘balanced life’

Alexis Polles, MD, medical director for the Professionals Resource Network, points out the importance of taking time for personal health and wellness. “When we work with professionals who have problems with mental health or substance abuse, they often don’t have a balanced life,” she says. “They are usually in a workaholic mindset and disregard their own needs.”

Few physicians seem to prioritize self-care, with a third indicating they “always” or “most of the time” spend enough time on their own health and wellness. But of those who do, males (38%) are more likely than females (27%) to spend enough time on their own health and wellness. Dr. Polles adds that exercising after a shift can help physicians better make the transition from professional to personal life. Though they did not report when they exercised, about a third of physicians reported doing so four or more times per week. Controlling weight is an issue as well, with 49% of male and 55% of female physicians saying they are currently trying to lose weight.

Of physicians who drink alcohol, about a third have three or more drinks per week. (The CDC defines “heavy drinking” as consuming 15 drinks or more per week for men and eight drinks or more per week for women.)

Of those surveyed, 92% say they do not regularly use cannabidiol or cannabis, and a mere 4% of respondents said they would use at least one of these substances if they were to become legal in their state.

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

One of the unexpected consequences of the pandemic is that many people are rethinking their priorities and lifestyles, and physicians are no exception.

This year’s Medscape Physician Lifestyle and Happiness Report surveyed more than 10,000 physicians in 29 specialties about how they are prioritizing wellness, work-life balance, and their family lives during this challenging time.

Pets, prayer, and partners

The pandemic has taken a toll on physicians outside of work as well as on the job. Eight in 10 physicians (82% of men and 80% of women) said they were “somewhat” or “very” happy outside of work before the pandemic. This is almost exactly the same result as in last year’s survey.

However, when asked how happy they are outside of work currently, only 6 in 10 (59%) reported being “somewhat” or “very” happy. While the pandemic has made life difficult for everyone, health care professionals face particular stresses even outside of work. Wayne M. Sotile, PhD, founder of the Center for Physician Resilience, says he has counseled doctors who witnessed COVID-related suffering and death at work, then came home to a partner who didn’t believe that the pandemic was real.

Still, physicians reported that spending time with people they love and engaging in favorite activities helps them stay happy. “Spending time with pets” and “religious practice/prayer” were frequent “other” responses to the question, “What do you do to maintain happiness and mental health?” Seven in 10 physicians reported having some kind of religious or spiritual beliefs.

The majority of physicians (83%) are either married or living with a partner, with male physicians edging out their female peers (89% vs. 75%). Among married physicians, 8 in 10 physicians reported that their union is “good” or “very good.” The pandemic may have helped in this respect. Dr. Sotile says he’s heard physicians say that they’ve connected more with their families in the past 18 months. Specialists with the highest rates of happy marriages were otolaryngologists and immunologists (both 91%), followed closely by dermatologists, rheumatologists, and nephrologists (all 90%).

Among physicians balancing a medical career and parenthood, female physicians reported feeling conflicted more often than males (48% vs. 29%). Nicole A. Sparks, MD, an ob.gyn. and a health and lifestyle blogger, cites not being there for her kids as a source of stress. She notes that her two young children notice when she’s not there to help with homework, read bedtime stories, or make their dinner. “Mom guilt can definitely set in if I have to miss important events,” she says.

Work-life balance is an important, if elusive, goal for physicians, and not just females. Sixty percent of female doctors and 53% of male doctors said they would be willing to take a cut in pay if it meant more free time and a better work-life balance. Many doctors do manage to get away from work occasionally, with one-fifth of all physicians taking 5 or more weeks of vacation each year.

Seeking a ‘balanced life’

Alexis Polles, MD, medical director for the Professionals Resource Network, points out the importance of taking time for personal health and wellness. “When we work with professionals who have problems with mental health or substance abuse, they often don’t have a balanced life,” she says. “They are usually in a workaholic mindset and disregard their own needs.”

Few physicians seem to prioritize self-care, with a third indicating they “always” or “most of the time” spend enough time on their own health and wellness. But of those who do, males (38%) are more likely than females (27%) to spend enough time on their own health and wellness. Dr. Polles adds that exercising after a shift can help physicians better make the transition from professional to personal life. Though they did not report when they exercised, about a third of physicians reported doing so four or more times per week. Controlling weight is an issue as well, with 49% of male and 55% of female physicians saying they are currently trying to lose weight.

Of physicians who drink alcohol, about a third have three or more drinks per week. (The CDC defines “heavy drinking” as consuming 15 drinks or more per week for men and eight drinks or more per week for women.)

Of those surveyed, 92% say they do not regularly use cannabidiol or cannabis, and a mere 4% of respondents said they would use at least one of these substances if they were to become legal in their state.

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

Key clinical point: A pregnancy-specific questionnaire to perform risk factor-based screening for elevated lead levels during pregnancy identified parturients with elevated blood lead levels with good sensitivity but poor specificity.

Major finding: Almost 78% of participants reported at least 1 risk factor for lead, with the questionnaire showing high sensitivity (100%) but low specificity (22%) for identifying detectable maternal lead levels. The blood lead level was clinically reportable in 2.2% of participants, with 1 of them having a blood lead level above 5 μg/dL.

Study details: Findings are from an analysis of 92 parturients with a singleton pregnancy ≥34 weeks’ gestation who had data recorded for blood lead levels and completed a lead risk factor survey modified for pregnancy.

Disclosures: This work was supported by the Harvard Catalyst, Harvard Clinical and Translational Science Center, Harvard University, and others. The authors declared no conflict of interests.

Source: Johnson KM et al. Matern Child Health J. 2022 Jan 12. doi: 10.1007/s10995-021-03325-x.

Key clinical point: A pregnancy-specific questionnaire to perform risk factor-based screening for elevated lead levels during pregnancy identified parturients with elevated blood lead levels with good sensitivity but poor specificity.

Major finding: Almost 78% of participants reported at least 1 risk factor for lead, with the questionnaire showing high sensitivity (100%) but low specificity (22%) for identifying detectable maternal lead levels. The blood lead level was clinically reportable in 2.2% of participants, with 1 of them having a blood lead level above 5 μg/dL.

Study details: Findings are from an analysis of 92 parturients with a singleton pregnancy ≥34 weeks’ gestation who had data recorded for blood lead levels and completed a lead risk factor survey modified for pregnancy.

Disclosures: This work was supported by the Harvard Catalyst, Harvard Clinical and Translational Science Center, Harvard University, and others. The authors declared no conflict of interests.

Source: Johnson KM et al. Matern Child Health J. 2022 Jan 12. doi: 10.1007/s10995-021-03325-x.

Key clinical point: A pregnancy-specific questionnaire to perform risk factor-based screening for elevated lead levels during pregnancy identified parturients with elevated blood lead levels with good sensitivity but poor specificity.

Major finding: Almost 78% of participants reported at least 1 risk factor for lead, with the questionnaire showing high sensitivity (100%) but low specificity (22%) for identifying detectable maternal lead levels. The blood lead level was clinically reportable in 2.2% of participants, with 1 of them having a blood lead level above 5 μg/dL.

Study details: Findings are from an analysis of 92 parturients with a singleton pregnancy ≥34 weeks’ gestation who had data recorded for blood lead levels and completed a lead risk factor survey modified for pregnancy.

Disclosures: This work was supported by the Harvard Catalyst, Harvard Clinical and Translational Science Center, Harvard University, and others. The authors declared no conflict of interests.

Source: Johnson KM et al. Matern Child Health J. 2022 Jan 12. doi: 10.1007/s10995-021-03325-x.

Key clinical point: Singleton exome sequencing (sES) could be a valuable prenatal diagnostic tool that offers the opportunity to obtain reliable and rapid prenatal results that reveal novel disease-causing variants in fetuses with ultrasound anomalies.

Major finding: The overall diagnostic yield for detection of pathogenic or likely pathogenic variants was 34.4%, with the diagnostic rate being highest for multiple anomalies (56%), followed by skeletal or renal abnormalities (50%). Furthermore, 20 novel disease-causing variants in different known disease-associated genes were identified.

Study details: Findings are from a retrospective analysis of 90 fetuses with a normal rapid aneuploidy detection but abnormal ultrasound findings, who were further investigated with sES or multigene panel analysis of 6,713 genes.

Disclosures: The study did not receive funds, grants, or other support. The authors declared no competing interests.

Source: Smogavec M et al. Eur J Hum Genet. 2022 Jan 1. doi: 10.1038/s41431-021-01012-7.

Key clinical point: Singleton exome sequencing (sES) could be a valuable prenatal diagnostic tool that offers the opportunity to obtain reliable and rapid prenatal results that reveal novel disease-causing variants in fetuses with ultrasound anomalies.

Major finding: The overall diagnostic yield for detection of pathogenic or likely pathogenic variants was 34.4%, with the diagnostic rate being highest for multiple anomalies (56%), followed by skeletal or renal abnormalities (50%). Furthermore, 20 novel disease-causing variants in different known disease-associated genes were identified.

Study details: Findings are from a retrospective analysis of 90 fetuses with a normal rapid aneuploidy detection but abnormal ultrasound findings, who were further investigated with sES or multigene panel analysis of 6,713 genes.

Disclosures: The study did not receive funds, grants, or other support. The authors declared no competing interests.

Source: Smogavec M et al. Eur J Hum Genet. 2022 Jan 1. doi: 10.1038/s41431-021-01012-7.

Key clinical point: Singleton exome sequencing (sES) could be a valuable prenatal diagnostic tool that offers the opportunity to obtain reliable and rapid prenatal results that reveal novel disease-causing variants in fetuses with ultrasound anomalies.

Major finding: The overall diagnostic yield for detection of pathogenic or likely pathogenic variants was 34.4%, with the diagnostic rate being highest for multiple anomalies (56%), followed by skeletal or renal abnormalities (50%). Furthermore, 20 novel disease-causing variants in different known disease-associated genes were identified.

Study details: Findings are from a retrospective analysis of 90 fetuses with a normal rapid aneuploidy detection but abnormal ultrasound findings, who were further investigated with sES or multigene panel analysis of 6,713 genes.

Disclosures: The study did not receive funds, grants, or other support. The authors declared no competing interests.

Source: Smogavec M et al. Eur J Hum Genet. 2022 Jan 1. doi: 10.1038/s41431-021-01012-7.

Key clinical point: Prenatal detection of fetal growth restriction (FGR) combined with polyhydramnios should indicate presence of different etiological groups with different prenatal and postnatal outcomes, necessitating long-term follow-up.

Major finding: The highest proportion of etiology identified was chromosomal abnormalities (41.8%), followed by complex malformation syndromes (24.1%), isolated malformations (15.7%), musculoskeletal disorders (9.2%), and parentally nonanomalous fetuses (9.2%). Overall, the mortality rate in the population was 64.7%.

Study details: Findings are from a single-center, retrospective analysis of 153 cases with FGR and polyhydramnios diagnosed by prenatal ultrasound, identified over 17 years.

Disclosures: No other funding sources were declared, except for open access funding by Projekt DEAL. The authors declared no competing interests.

Source: Walter A et al. Sci Rep. 2022 Jan 10. doi: 10.1038/s41598-021-04371-9.

Key clinical point: Prenatal detection of fetal growth restriction (FGR) combined with polyhydramnios should indicate presence of different etiological groups with different prenatal and postnatal outcomes, necessitating long-term follow-up.

Major finding: The highest proportion of etiology identified was chromosomal abnormalities (41.8%), followed by complex malformation syndromes (24.1%), isolated malformations (15.7%), musculoskeletal disorders (9.2%), and parentally nonanomalous fetuses (9.2%). Overall, the mortality rate in the population was 64.7%.

Study details: Findings are from a single-center, retrospective analysis of 153 cases with FGR and polyhydramnios diagnosed by prenatal ultrasound, identified over 17 years.

Disclosures: No other funding sources were declared, except for open access funding by Projekt DEAL. The authors declared no competing interests.

Source: Walter A et al. Sci Rep. 2022 Jan 10. doi: 10.1038/s41598-021-04371-9.

Key clinical point: Prenatal detection of fetal growth restriction (FGR) combined with polyhydramnios should indicate presence of different etiological groups with different prenatal and postnatal outcomes, necessitating long-term follow-up.

Major finding: The highest proportion of etiology identified was chromosomal abnormalities (41.8%), followed by complex malformation syndromes (24.1%), isolated malformations (15.7%), musculoskeletal disorders (9.2%), and parentally nonanomalous fetuses (9.2%). Overall, the mortality rate in the population was 64.7%.

Study details: Findings are from a single-center, retrospective analysis of 153 cases with FGR and polyhydramnios diagnosed by prenatal ultrasound, identified over 17 years.

Disclosures: No other funding sources were declared, except for open access funding by Projekt DEAL. The authors declared no competing interests.

Source: Walter A et al. Sci Rep. 2022 Jan 10. doi: 10.1038/s41598-021-04371-9.

Key clinical point: A short femur (SF) as an isolated symptom in prenatal diagnosis may not require additional surveillance, but intensified pregnancy monitoring may be required if SF is a part of small for gestational age (SGA) baby, an intrauterine growth retardation, or a suspected late growth retardation.

Major finding: Overall, 49.9% of fetuses presented with an isolated SF and 50.1% had additional abnormalities, 42.6% being SGA babies and 57.4% having ≥1 severe malformation. Children with isolated SF vs those with SF and additional abnormalities had a higher live birth rate (97.8% vs 78.9%) and a lower rate of perinatal death (0.1% vs 3.9%), abortions (0.3% vs 9.6%), or spontaneous miscarriages/intrauterine demises (1.8% vs 7.6%).

Study details: Findings are from a retrospective analysis of 1,373 singleton pregnancies with a fetal femoral length of <5^th percentile, detected during the second trimester screening.

Disclosures: The open access funding was enabled and organized by Projekt DEAL. The authors declared no conflict of interests.

Source: Friebe‐Hoffmann U et al. Arch Gynecol Obstet. 2022 Jan 11. doi: 10.1007/s00404-021-06394-z.

Key clinical point: A short femur (SF) as an isolated symptom in prenatal diagnosis may not require additional surveillance, but intensified pregnancy monitoring may be required if SF is a part of small for gestational age (SGA) baby, an intrauterine growth retardation, or a suspected late growth retardation.

Major finding: Overall, 49.9% of fetuses presented with an isolated SF and 50.1% had additional abnormalities, 42.6% being SGA babies and 57.4% having ≥1 severe malformation. Children with isolated SF vs those with SF and additional abnormalities had a higher live birth rate (97.8% vs 78.9%) and a lower rate of perinatal death (0.1% vs 3.9%), abortions (0.3% vs 9.6%), or spontaneous miscarriages/intrauterine demises (1.8% vs 7.6%).

Study details: Findings are from a retrospective analysis of 1,373 singleton pregnancies with a fetal femoral length of <5^th percentile, detected during the second trimester screening.

Disclosures: The open access funding was enabled and organized by Projekt DEAL. The authors declared no conflict of interests.

Source: Friebe‐Hoffmann U et al. Arch Gynecol Obstet. 2022 Jan 11. doi: 10.1007/s00404-021-06394-z.

Key clinical point: A short femur (SF) as an isolated symptom in prenatal diagnosis may not require additional surveillance, but intensified pregnancy monitoring may be required if SF is a part of small for gestational age (SGA) baby, an intrauterine growth retardation, or a suspected late growth retardation.

Major finding: Overall, 49.9% of fetuses presented with an isolated SF and 50.1% had additional abnormalities, 42.6% being SGA babies and 57.4% having ≥1 severe malformation. Children with isolated SF vs those with SF and additional abnormalities had a higher live birth rate (97.8% vs 78.9%) and a lower rate of perinatal death (0.1% vs 3.9%), abortions (0.3% vs 9.6%), or spontaneous miscarriages/intrauterine demises (1.8% vs 7.6%).

Study details: Findings are from a retrospective analysis of 1,373 singleton pregnancies with a fetal femoral length of <5^th percentile, detected during the second trimester screening.

Disclosures: The open access funding was enabled and organized by Projekt DEAL. The authors declared no conflict of interests.

Source: Friebe‐Hoffmann U et al. Arch Gynecol Obstet. 2022 Jan 11. doi: 10.1007/s00404-021-06394-z.

Key clinical point: Performing a first-trimester ultrasound examination along with noninvasive prenatal testing (NIPT) led to a higher positive predictive value (PPV) for trisomy 18, which could help alleviate stress caused by a false-positive NIPT result in cases where the ultrasound is normal.

Major finding: The PPV of NIPT was 100%, 84.6%, and 100% for trisomy 21, trisomy 18, and trisomy 13, respectively. The use of ultrasound in pregnancies with positive NIPT results detected abnormalities in 80% of trisomy 13 and 100% of true-positive trisomy 18 cases.

Study details: This was a retrospective analysis of 41 women with positive NIPT results for trisomy 21, trisomy 18, and trisomy 13 who underwent a first-trimester ultrasound scan.

Disclosures: The study did not receive any funding. The authors did not have any conflict of interests.

Source: Saito M et al. J Obstet Gynaecol Res. 2021 Dec 16. doi: 10.1111/jog.15115.

Key clinical point: Performing a first-trimester ultrasound examination along with noninvasive prenatal testing (NIPT) led to a higher positive predictive value (PPV) for trisomy 18, which could help alleviate stress caused by a false-positive NIPT result in cases where the ultrasound is normal.

Major finding: The PPV of NIPT was 100%, 84.6%, and 100% for trisomy 21, trisomy 18, and trisomy 13, respectively. The use of ultrasound in pregnancies with positive NIPT results detected abnormalities in 80% of trisomy 13 and 100% of true-positive trisomy 18 cases.

Study details: This was a retrospective analysis of 41 women with positive NIPT results for trisomy 21, trisomy 18, and trisomy 13 who underwent a first-trimester ultrasound scan.

Disclosures: The study did not receive any funding. The authors did not have any conflict of interests.

Source: Saito M et al. J Obstet Gynaecol Res. 2021 Dec 16. doi: 10.1111/jog.15115.

Key clinical point: Performing a first-trimester ultrasound examination along with noninvasive prenatal testing (NIPT) led to a higher positive predictive value (PPV) for trisomy 18, which could help alleviate stress caused by a false-positive NIPT result in cases where the ultrasound is normal.

Major finding: The PPV of NIPT was 100%, 84.6%, and 100% for trisomy 21, trisomy 18, and trisomy 13, respectively. The use of ultrasound in pregnancies with positive NIPT results detected abnormalities in 80% of trisomy 13 and 100% of true-positive trisomy 18 cases.

Study details: This was a retrospective analysis of 41 women with positive NIPT results for trisomy 21, trisomy 18, and trisomy 13 who underwent a first-trimester ultrasound scan.

Disclosures: The study did not receive any funding. The authors did not have any conflict of interests.

Source: Saito M et al. J Obstet Gynaecol Res. 2021 Dec 16. doi: 10.1111/jog.15115.

Key clinical point: The novel congenital anomaly testing strategy using simultaneous CNV-seq and whole-exome sequencing (WES) can effectively identify congenital defects and complex anomalies.

Major finding: Overall, 227 trios were identified with a causative alteration (CNV or variant), of which 84.14% were de novo. Both pathogenic CNVs and variants were identified in 10 fetuses. Multisystem anomalies yielded a higher diagnostic yield than single-system anomalies (32.28% vs 22.36%; P = .0183).

Study details: Findings are from a retrospective study of 1,800 pregnant women with singleton fetuses showing structural anomalies at prenatal ultrasound screening, of which 959 trios underwent simultaneous CNV-seq and WES analysis.

Disclosures: This study was funded by CAMS Innovation Fund for Medical Sciences, National Key R&D Program of China, and others. R Chen, X Zhang, C Liu, Y Li, and J Zhang declared being employees of Berry Genomics, and the other authors had no competing interests.

Source: Chen X et al. J Transl Med. 2022 Jan 3. doi: 10.1186/s12967-021-03202-9.

Key clinical point: The novel congenital anomaly testing strategy using simultaneous CNV-seq and whole-exome sequencing (WES) can effectively identify congenital defects and complex anomalies.

Major finding: Overall, 227 trios were identified with a causative alteration (CNV or variant), of which 84.14% were de novo. Both pathogenic CNVs and variants were identified in 10 fetuses. Multisystem anomalies yielded a higher diagnostic yield than single-system anomalies (32.28% vs 22.36%; P = .0183).

Study details: Findings are from a retrospective study of 1,800 pregnant women with singleton fetuses showing structural anomalies at prenatal ultrasound screening, of which 959 trios underwent simultaneous CNV-seq and WES analysis.

Disclosures: This study was funded by CAMS Innovation Fund for Medical Sciences, National Key R&D Program of China, and others. R Chen, X Zhang, C Liu, Y Li, and J Zhang declared being employees of Berry Genomics, and the other authors had no competing interests.

Source: Chen X et al. J Transl Med. 2022 Jan 3. doi: 10.1186/s12967-021-03202-9.

Key clinical point: The novel congenital anomaly testing strategy using simultaneous CNV-seq and whole-exome sequencing (WES) can effectively identify congenital defects and complex anomalies.

Major finding: Overall, 227 trios were identified with a causative alteration (CNV or variant), of which 84.14% were de novo. Both pathogenic CNVs and variants were identified in 10 fetuses. Multisystem anomalies yielded a higher diagnostic yield than single-system anomalies (32.28% vs 22.36%; P = .0183).

Study details: Findings are from a retrospective study of 1,800 pregnant women with singleton fetuses showing structural anomalies at prenatal ultrasound screening, of which 959 trios underwent simultaneous CNV-seq and WES analysis.

Disclosures: This study was funded by CAMS Innovation Fund for Medical Sciences, National Key R&D Program of China, and others. R Chen, X Zhang, C Liu, Y Li, and J Zhang declared being employees of Berry Genomics, and the other authors had no competing interests.

Source: Chen X et al. J Transl Med. 2022 Jan 3. doi: 10.1186/s12967-021-03202-9.

Key clinical point: Intrapartum rapid test to diagnose maternal group B Streptococcus (GBS) colonization did not reduce rates of prophylactic antibiotics administered to at-risk mothers for preventing mother-to-child transmission of GBS infection compared with the usual care policy of offering antibiotics based on only risk factors.

Major finding: The proportion of women receiving intrapartum antibiotic prophylaxis to prevent neonatal early-onset GBS infection was not significantly different between units assigned to rapid intrapartum test vs usual care (41% vs 36%; adjusted relative risk, 1.16; 95% CI, 0.83-1.64).

Study details: Findings are from a parallel-group cluster-randomized trial including 20 maternity clinics that were randomly assigned to a strategy of an intrapartum rapid test to detect maternal GBS colonization (722 mothers; 749 babies) or usual care (906 mothers; 951 babies).

Disclosures: The GBS2 study was funded by the National Institute for Health Research, Health Technology Assessment programme. JP Daniel, J Plumb, and J Gray declared being grant holders, receiving support for attending conferences, summits, or workshops from various sources and being members of various committees.

Source: Daniels JP et al. BMC Med. 2022 Jan 14. doi: 10.1186/s12916-021-02202-2.

Key clinical point: Intrapartum rapid test to diagnose maternal group B Streptococcus (GBS) colonization did not reduce rates of prophylactic antibiotics administered to at-risk mothers for preventing mother-to-child transmission of GBS infection compared with the usual care policy of offering antibiotics based on only risk factors.

Major finding: The proportion of women receiving intrapartum antibiotic prophylaxis to prevent neonatal early-onset GBS infection was not significantly different between units assigned to rapid intrapartum test vs usual care (41% vs 36%; adjusted relative risk, 1.16; 95% CI, 0.83-1.64).

Study details: Findings are from a parallel-group cluster-randomized trial including 20 maternity clinics that were randomly assigned to a strategy of an intrapartum rapid test to detect maternal GBS colonization (722 mothers; 749 babies) or usual care (906 mothers; 951 babies).

Disclosures: The GBS2 study was funded by the National Institute for Health Research, Health Technology Assessment programme. JP Daniel, J Plumb, and J Gray declared being grant holders, receiving support for attending conferences, summits, or workshops from various sources and being members of various committees.

Source: Daniels JP et al. BMC Med. 2022 Jan 14. doi: 10.1186/s12916-021-02202-2.

Key clinical point: Intrapartum rapid test to diagnose maternal group B Streptococcus (GBS) colonization did not reduce rates of prophylactic antibiotics administered to at-risk mothers for preventing mother-to-child transmission of GBS infection compared with the usual care policy of offering antibiotics based on only risk factors.

Major finding: The proportion of women receiving intrapartum antibiotic prophylaxis to prevent neonatal early-onset GBS infection was not significantly different between units assigned to rapid intrapartum test vs usual care (41% vs 36%; adjusted relative risk, 1.16; 95% CI, 0.83-1.64).

Study details: Findings are from a parallel-group cluster-randomized trial including 20 maternity clinics that were randomly assigned to a strategy of an intrapartum rapid test to detect maternal GBS colonization (722 mothers; 749 babies) or usual care (906 mothers; 951 babies).

Disclosures: The GBS2 study was funded by the National Institute for Health Research, Health Technology Assessment programme. JP Daniel, J Plumb, and J Gray declared being grant holders, receiving support for attending conferences, summits, or workshops from various sources and being members of various committees.

Source: Daniels JP et al. BMC Med. 2022 Jan 14. doi: 10.1186/s12916-021-02202-2.

Key clinical point: Increased fetal crown-chin length (CCL)/crown-rump length (CRL) ratio at 11-14 weeks’ gestation was significantly associated with an increased risk for skeletal dysplasia and could help screen the same in the first trimester.

Major finding: Of 16 fetuses with skeletal dysplasia, 62.5% had a CCL/CRL ratio above the 95th percentile, which when used as a cutoff yielded a detection rate, specificity, false-positive rate, and the positive likelihood ratio of 62.5%, 72.6%, 5.0%, and 17.5%, respectively.

Study details: Findings are from a retrospective study that compared CCL/CRL ratios on a first-trimester ultrasound examination in 418 normal fetuses with 154 fetuses affected by skeletal dysplasia.

Disclosures: No source of funding was declared. None of the other authors declared any conflict of interests.

Source: Li Y et al. J Ultrasound Med. 2022 Jan 3. doi: 10.1002/jum.15936.

Key clinical point: Increased fetal crown-chin length (CCL)/crown-rump length (CRL) ratio at 11-14 weeks’ gestation was significantly associated with an increased risk for skeletal dysplasia and could help screen the same in the first trimester.

Major finding: Of 16 fetuses with skeletal dysplasia, 62.5% had a CCL/CRL ratio above the 95th percentile, which when used as a cutoff yielded a detection rate, specificity, false-positive rate, and the positive likelihood ratio of 62.5%, 72.6%, 5.0%, and 17.5%, respectively.

Study details: Findings are from a retrospective study that compared CCL/CRL ratios on a first-trimester ultrasound examination in 418 normal fetuses with 154 fetuses affected by skeletal dysplasia.

Disclosures: No source of funding was declared. None of the other authors declared any conflict of interests.

Source: Li Y et al. J Ultrasound Med. 2022 Jan 3. doi: 10.1002/jum.15936.

Key clinical point: Increased fetal crown-chin length (CCL)/crown-rump length (CRL) ratio at 11-14 weeks’ gestation was significantly associated with an increased risk for skeletal dysplasia and could help screen the same in the first trimester.

Major finding: Of 16 fetuses with skeletal dysplasia, 62.5% had a CCL/CRL ratio above the 95th percentile, which when used as a cutoff yielded a detection rate, specificity, false-positive rate, and the positive likelihood ratio of 62.5%, 72.6%, 5.0%, and 17.5%, respectively.

Study details: Findings are from a retrospective study that compared CCL/CRL ratios on a first-trimester ultrasound examination in 418 normal fetuses with 154 fetuses affected by skeletal dysplasia.

Disclosures: No source of funding was declared. None of the other authors declared any conflict of interests.

Source: Li Y et al. J Ultrasound Med. 2022 Jan 3. doi: 10.1002/jum.15936.

Key clinical point: Fetal abdominal obesity (FAO) was already present at 20-24 gestational weeks (GW) in the high-risk older and/or obese women with gestational diabetes mellitus (GDM) with FAO at 20-24 GW in women with GDM being associated with higher odds of FAO at GDM diagnosis.

Major finding: Compared with normal glucose tolerance (NGT), older and/or obese women (P < .05) but not young and nonobese women with GDM had a significantly higher fetal abdominal overgrowth ratio at gestational weeks 20-24. Compared with NGT women without FAO at 20-24 GW, the odds ratio for exhibiting FAO at GDM diagnosis was 10.15 (95% CI, 5.27-19.57).

Study details: Findings are from a retrospective review of 6,996 singleton pregnant women who had fetal biometry data measured at 20-24 GW and delivered at the respective medical center were included.

Disclosures: The authors did not declare any source of funding. The authors declared no competing interests.

Source: Kim W et al. Sci Rep. 2021 Dec 10. doi: 10.1038/s41598-021-03145-7.

Key clinical point: Fetal abdominal obesity (FAO) was already present at 20-24 gestational weeks (GW) in the high-risk older and/or obese women with gestational diabetes mellitus (GDM) with FAO at 20-24 GW in women with GDM being associated with higher odds of FAO at GDM diagnosis.

Major finding: Compared with normal glucose tolerance (NGT), older and/or obese women (P < .05) but not young and nonobese women with GDM had a significantly higher fetal abdominal overgrowth ratio at gestational weeks 20-24. Compared with NGT women without FAO at 20-24 GW, the odds ratio for exhibiting FAO at GDM diagnosis was 10.15 (95% CI, 5.27-19.57).

Study details: Findings are from a retrospective review of 6,996 singleton pregnant women who had fetal biometry data measured at 20-24 GW and delivered at the respective medical center were included.

Disclosures: The authors did not declare any source of funding. The authors declared no competing interests.

Source: Kim W et al. Sci Rep. 2021 Dec 10. doi: 10.1038/s41598-021-03145-7.

Key clinical point: Fetal abdominal obesity (FAO) was already present at 20-24 gestational weeks (GW) in the high-risk older and/or obese women with gestational diabetes mellitus (GDM) with FAO at 20-24 GW in women with GDM being associated with higher odds of FAO at GDM diagnosis.

Major finding: Compared with normal glucose tolerance (NGT), older and/or obese women (P < .05) but not young and nonobese women with GDM had a significantly higher fetal abdominal overgrowth ratio at gestational weeks 20-24. Compared with NGT women without FAO at 20-24 GW, the odds ratio for exhibiting FAO at GDM diagnosis was 10.15 (95% CI, 5.27-19.57).

Study details: Findings are from a retrospective review of 6,996 singleton pregnant women who had fetal biometry data measured at 20-24 GW and delivered at the respective medical center were included.

Disclosures: The authors did not declare any source of funding. The authors declared no competing interests.

Source: Kim W et al. Sci Rep. 2021 Dec 10. doi: 10.1038/s41598-021-03145-7.