Clinical Edge Journal Scan

Key clinical point: Hepatic arterial infusion chemotherapy of infusional fluorouracil, leucovorin, and oxaliplatin (HAIC-FO) is better than sorafenib at improving survival in patients with locally advanced hepatocellular carcinoma (HCC).

Main finding: At a median follow-up of 17.1 and 19.8 months, HAIC-FO- and sorafenib-treated patients showed a median overall survival (OS) of 13.9 months (95% CI, 10.6-17.2) and 8.2 months (95% CI, 7.5-9.0), respectively (hazard ratio [HR], 0.408; P = .001), with OS improvements favoring HAIC-FO vs sorafenib in even high-risk patients (10.8 months vs 5.7 months; HR, 0.343; P < .001). Grade 3/4 adverse events were more frequent with sorafenib vs HAIC-FO (48.1% vs20.3%).

Study details: The data come from the open-label, phase 3 FOHAIC-1 trial, which included 262 systemic therapy-naive patients with locally advanced or unresectable HCC who were randomly assigned to receive either HAIC-FO (n=130) or sorafenib (n=132).

Disclosures: The National Natural Science Foundation of China sponsored the study. The authors did not report any potential conflict of interests.

Source: Lyu N et al. J Clin Oncol. 2021 Dec 14. doi: 10.1200/JCO.21.01963.

Key clinical point: Hepatic arterial infusion chemotherapy of infusional fluorouracil, leucovorin, and oxaliplatin (HAIC-FO) is better than sorafenib at improving survival in patients with locally advanced hepatocellular carcinoma (HCC).

Main finding: At a median follow-up of 17.1 and 19.8 months, HAIC-FO- and sorafenib-treated patients showed a median overall survival (OS) of 13.9 months (95% CI, 10.6-17.2) and 8.2 months (95% CI, 7.5-9.0), respectively (hazard ratio [HR], 0.408; P = .001), with OS improvements favoring HAIC-FO vs sorafenib in even high-risk patients (10.8 months vs 5.7 months; HR, 0.343; P < .001). Grade 3/4 adverse events were more frequent with sorafenib vs HAIC-FO (48.1% vs20.3%).

Study details: The data come from the open-label, phase 3 FOHAIC-1 trial, which included 262 systemic therapy-naive patients with locally advanced or unresectable HCC who were randomly assigned to receive either HAIC-FO (n=130) or sorafenib (n=132).

Disclosures: The National Natural Science Foundation of China sponsored the study. The authors did not report any potential conflict of interests.

Source: Lyu N et al. J Clin Oncol. 2021 Dec 14. doi: 10.1200/JCO.21.01963.

Key clinical point: Hepatic arterial infusion chemotherapy of infusional fluorouracil, leucovorin, and oxaliplatin (HAIC-FO) is better than sorafenib at improving survival in patients with locally advanced hepatocellular carcinoma (HCC).

Main finding: At a median follow-up of 17.1 and 19.8 months, HAIC-FO- and sorafenib-treated patients showed a median overall survival (OS) of 13.9 months (95% CI, 10.6-17.2) and 8.2 months (95% CI, 7.5-9.0), respectively (hazard ratio [HR], 0.408; P = .001), with OS improvements favoring HAIC-FO vs sorafenib in even high-risk patients (10.8 months vs 5.7 months; HR, 0.343; P < .001). Grade 3/4 adverse events were more frequent with sorafenib vs HAIC-FO (48.1% vs20.3%).

Study details: The data come from the open-label, phase 3 FOHAIC-1 trial, which included 262 systemic therapy-naive patients with locally advanced or unresectable HCC who were randomly assigned to receive either HAIC-FO (n=130) or sorafenib (n=132).

Disclosures: The National Natural Science Foundation of China sponsored the study. The authors did not report any potential conflict of interests.

Source: Lyu N et al. J Clin Oncol. 2021 Dec 14. doi: 10.1200/JCO.21.01963.

Key clinical point: Longer follow-up results confirm the survival benefits and consistent safety of first-line atezolizumab + bevacizumab vs sorafenib in patients with locally advanced or metastatic and/or unresectable hepatocellular carcinoma (HCC).

Major finding: After a 15.6-month median follow-up, the median overall survival (19.2 months vs 13.4 months; stratified hazard ratio [HR] for death, 0.66; P < .001) and progression-free survival (6.9 months vs 4.3 months; HR for death/progression, 0.65; P < .001) were higher with atezolizumab + bevacizumab vs sorafenib. Treatment-related grade 3/4 adverse events occurred in 43% vs 46% of patients receiving atezolizumab + bevacizumab vs sorafenib.

Study details: Findings are from a post hoc analysis of the phase 3 IMbrave150 trial including 501 treatment-naïve patients with locally advanced or metastatic and/or unresectable HCC. Patients were randomly assigned to atezolizumab + bevacizumab or sorafenib.

Disclosures: This study was funded by F. Hoffman-La Roche (FHLR)/Genentech. All investigators reported receiving financial or nonfinancial support, providing expert testimony, being an employee of, or holding shares/stocks in various pharmaceutical companies including FHLR/Genentech.

Source: Cheng AL et al. J Hepatol. 2021 Dec 10. doi: 10.1016/j.jhep.2021.11.030.

Key clinical point: Longer follow-up results confirm the survival benefits and consistent safety of first-line atezolizumab + bevacizumab vs sorafenib in patients with locally advanced or metastatic and/or unresectable hepatocellular carcinoma (HCC).

Major finding: After a 15.6-month median follow-up, the median overall survival (19.2 months vs 13.4 months; stratified hazard ratio [HR] for death, 0.66; P < .001) and progression-free survival (6.9 months vs 4.3 months; HR for death/progression, 0.65; P < .001) were higher with atezolizumab + bevacizumab vs sorafenib. Treatment-related grade 3/4 adverse events occurred in 43% vs 46% of patients receiving atezolizumab + bevacizumab vs sorafenib.

Study details: Findings are from a post hoc analysis of the phase 3 IMbrave150 trial including 501 treatment-naïve patients with locally advanced or metastatic and/or unresectable HCC. Patients were randomly assigned to atezolizumab + bevacizumab or sorafenib.

Disclosures: This study was funded by F. Hoffman-La Roche (FHLR)/Genentech. All investigators reported receiving financial or nonfinancial support, providing expert testimony, being an employee of, or holding shares/stocks in various pharmaceutical companies including FHLR/Genentech.

Source: Cheng AL et al. J Hepatol. 2021 Dec 10. doi: 10.1016/j.jhep.2021.11.030.

Key clinical point: Longer follow-up results confirm the survival benefits and consistent safety of first-line atezolizumab + bevacizumab vs sorafenib in patients with locally advanced or metastatic and/or unresectable hepatocellular carcinoma (HCC).

Major finding: After a 15.6-month median follow-up, the median overall survival (19.2 months vs 13.4 months; stratified hazard ratio [HR] for death, 0.66; P < .001) and progression-free survival (6.9 months vs 4.3 months; HR for death/progression, 0.65; P < .001) were higher with atezolizumab + bevacizumab vs sorafenib. Treatment-related grade 3/4 adverse events occurred in 43% vs 46% of patients receiving atezolizumab + bevacizumab vs sorafenib.

Study details: Findings are from a post hoc analysis of the phase 3 IMbrave150 trial including 501 treatment-naïve patients with locally advanced or metastatic and/or unresectable HCC. Patients were randomly assigned to atezolizumab + bevacizumab or sorafenib.

Disclosures: This study was funded by F. Hoffman-La Roche (FHLR)/Genentech. All investigators reported receiving financial or nonfinancial support, providing expert testimony, being an employee of, or holding shares/stocks in various pharmaceutical companies including FHLR/Genentech.

Source: Cheng AL et al. J Hepatol. 2021 Dec 10. doi: 10.1016/j.jhep.2021.11.030.

Key clinical point: First-line nivolumab treatment did not improve overall survival in patients with advanced hepatocellular carcinoma (HCC) compared with sorafenib.

Major finding: At a minimum follow-up of 22.8 months, nivolumab vs sorafenib did not meet the prespecified significance boundary for superior overall survival (16.4 months vs 14.7 months; hazard ratio, 0.85; P = .075).

Study details: Findings are from the phase 3 CheckMate 459 trial including 743 adult patients with advanced HCC randomly assigned to receive either nivolumab (n=371) or sorafenib (n=372).

Disclosures: This study was supported by Bristol Myers Squibb (BMS) and Ono Pharmaceutical. Some investigators including the lead author reported receiving grants and fees from, participation on data safety monitoring board or advisory boards for, owning stocks in, and being an employee of various pharmaceutical companies, including BMS and Ono Pharmaceutical.

Source: Yau T et al. Lancet Oncol. 2021 Dec 13. doi: 10.1016/S1470-2045(21)00604-5.

Key clinical point: First-line nivolumab treatment did not improve overall survival in patients with advanced hepatocellular carcinoma (HCC) compared with sorafenib.

Major finding: At a minimum follow-up of 22.8 months, nivolumab vs sorafenib did not meet the prespecified significance boundary for superior overall survival (16.4 months vs 14.7 months; hazard ratio, 0.85; P = .075).

Study details: Findings are from the phase 3 CheckMate 459 trial including 743 adult patients with advanced HCC randomly assigned to receive either nivolumab (n=371) or sorafenib (n=372).

Disclosures: This study was supported by Bristol Myers Squibb (BMS) and Ono Pharmaceutical. Some investigators including the lead author reported receiving grants and fees from, participation on data safety monitoring board or advisory boards for, owning stocks in, and being an employee of various pharmaceutical companies, including BMS and Ono Pharmaceutical.

Source: Yau T et al. Lancet Oncol. 2021 Dec 13. doi: 10.1016/S1470-2045(21)00604-5.

Key clinical point: First-line nivolumab treatment did not improve overall survival in patients with advanced hepatocellular carcinoma (HCC) compared with sorafenib.

Major finding: At a minimum follow-up of 22.8 months, nivolumab vs sorafenib did not meet the prespecified significance boundary for superior overall survival (16.4 months vs 14.7 months; hazard ratio, 0.85; P = .075).

Study details: Findings are from the phase 3 CheckMate 459 trial including 743 adult patients with advanced HCC randomly assigned to receive either nivolumab (n=371) or sorafenib (n=372).

Disclosures: This study was supported by Bristol Myers Squibb (BMS) and Ono Pharmaceutical. Some investigators including the lead author reported receiving grants and fees from, participation on data safety monitoring board or advisory boards for, owning stocks in, and being an employee of various pharmaceutical companies, including BMS and Ono Pharmaceutical.

Source: Yau T et al. Lancet Oncol. 2021 Dec 13. doi: 10.1016/S1470-2045(21)00604-5.

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.