BACKGROUNDThe cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear. METHODSWe evaluated a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions. The primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that were classified as either pathogenic or likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. Secondary outcomes were the percentage of cases associated with specific genetic disorders and the proportion of variants that were inherited. RESULTSIn 37 of the 127 cases (29%), we identified diagnostic genetic variants, including those for disorders affecting the RAS-MAPK cell-signaling pathway (known as RASopathies) (30% of the genetic diagnoses); inborn errors of metabolism and musculoskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic disorders (8% each); and others. Prognoses ranged from a relatively mild outcome to death during the perinatal period. Overall, 68% of the cases (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance. We identified potentially diagnostic variants in an additional 12 cases. CONCLUSIONSIn this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases.

Automated three-dimensional ultrasound imaging using artificial intelligence can reliably identify and measure fetal biparietal diameter and head circumference, but is less consistent in accurately identifying and measuring transcerebellar diameter, cisterna magna and posterior horn of the lateral ventricle. What are the clinical implications of this work?Further optimization of this automated ultrasound imaging technology for fetal head biometry based on machine learning is necessary prior to incorporation into routine sonographic protocols.

Objective To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas. Methods We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation. A treatment program was initiated with a 10‐mg loading dose titrated to a goal maternal trough of 10 to 15 ng/dL. In order to follow fetal cardiac function, a sophisticated method of speckle tracking echocardiography was used before and after treatment. Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. Results Sirolimus was initiated from 28 to 36 weeks of gestation with improvement of cardiac status. During this period, intrauterine growth restriction developed. Postnatally, the infant has had stable rhabdomyomas and cardiac function without reinitiating sirolimus. Brain MRI demonstrated scattered cortical tubers and subependymal nodules, and the infant has not had seizure‐like activity. At 6 months of age, the infant has achieved appropriate developmental milestones. Conclusion In counseling cases of prenatal onset large obstructing rhabdomyomas and cardiac compromise, in utero sirolimus treatment can be considered.

BACKGROUNDThe cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear. METHODSWe evaluated a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions. The primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that were classified as either pathogenic or likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. Secondary outcomes were the percentage of cases associated with specific genetic disorders and the proportion of variants that were inherited. RESULTSIn 37 of the 127 cases (29%), we identified diagnostic genetic variants, including those for disorders affecting the RAS-MAPK cell-signaling pathway (known as RASopathies) (30% of the genetic diagnoses); inborn errors of metabolism and musculoskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic disorders (8% each); and others. Prognoses ranged from a relatively mild outcome to death during the perinatal period. Overall, 68% of the cases (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance. We identified potentially diagnostic variants in an additional 12 cases. CONCLUSIONSIn this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases.

Background Mental health disorders (MHD) are becoming more recognized in pregnancy. Whether MHD are associated with health services utilization postpartum is incompletely understood. Objective To investigate postpartum emergency department (ED) use within 30 days of delivery among women with preexisting MHD during pregnancy. Study Design This was a retrospective cohort study evaluating ED use among postpartum women with or without MHD who delivered at an academic center between January 2014 to June 2018. Demographic and outcome data were chart abstracted and analyzed. Multivariate regression was performed to adjust for covariates. Results During the study period, 13,605 women delivered at the institution, 2,355 (17.3%) of whom had an underlying MHD. The primary diagnoses of MHD were anxiety (48.8%), depression (34.8%), substance use disorder (11.4%), bipolar disorder (3.4%), psychosis (0.7%), and other (0.8%). There were a total of 565 ED visits within thirty days of delivery. Women who presented to the ED postpartum were more likely to have public insurance, identify as Black or Asian and have an underlying MHD. Among women with MHD, 155 (6.6%) utilized the ED within 30 days of their delivery compared to 410 (3.6%) of patients without MHD (p<0.001; aOR 1.74 95%CI [1.42-2.13]). When assessing the risk of ED usage per type of MHD, anxiety (aOR 1.73 (95%CI [1.31-2.27]) and depression (aOR 2.13 (95% CI [1.59-2.86]) carried the highest risk. Compared to women without MHD, women with underlying MHD had more presentations for hypertension (15.5% vs. 11.2%) and psychiatric evaluations (4.5% vs. 0.2%, both p<0.001). Conclusion Women with mental health disorders utilize the ED during the postpartum period for psychiatric and obstetric reasons more frequently compared to women without mental health disorders. Increased surveillance, treatment, and follow-up during pregnancy and the early postpartum period may be warranted for this high-risk population.

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Objective This study aims to evaluate the utility of social media to distribute a patient survey on differences in management and outcomes of monochorionic–diamniotic (MCDA) pregnancies. Study Design A cross-sectional survey was posted to an English-language MCDA twins patient-centered support group within the social media site, Facebook from April 2, 2018 to June 26, 2018. Subjects were recruited through a technique called “snowballing,” whereby individuals shared the survey to assist with recruiting. Patient reported data were analyzed using Chi-square and Kruskal–Wallis's tests to explore characteristics associated with surveillance and outcomes as related to region and provider type. Results Over 3 months, the post “reached” 14,288 Facebook users, among which 5,653 (40%) clicked on the post. A total of 2,357 respondents with MCDA pregnancies completed the survey. Total 1,928 (82%) were from the United States (US) and 419 (18%) from other countries. Total 85% of patients had co-management with maternal–fetal medicine (MFM), more in the US compared with the rest of the world (87 vs. 74%, p < 0.01). MFM involvement led to increased adherence to biweekly ultrasounds (91 vs. 65%, p < 0.01), diagnosis of monochorionicity by 12 weeks (74 vs. 69%, p < 0.01) and better education about twin–twin transfusion syndrome (90 vs. 66%, p < 0.01). Pregnancies with MFM involvement had a higher take-home baby rate for both babies (92 vs. 89%, p < 0.01) or for at least one baby (98 vs. 93%, p < 0.01) compared with those without MFM involvement. Conclusion A survey distributed via social media can be effective in evaluating real-life management and outcomes of an uncommon obstetrical diagnosis. This survey elucidates wide international variation in adherence to guidelines, management, and outcomes.