RASopathies: A significant cause of polyhydramnios?

OBJECTIVE: The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation. METHODS: In this retrospective study, we reviewed 622 pregnancies with polyhydramnios seen at Lucile Packard Children's Hospital between 2008 and 2017. The findings from 131 cases evaluated by Medical Genetics were included in our final analysis. Genetic testing information was extracted to determine the rate of chromosomal or single gene conditions focusing on the RASopathies. Additional variables collected were: maternal characteristics, ultrasound findings, and the severity and timing of diagnosis of polyhydramnios. RESULTS: Postnatal genetic testing or clinical examination identified a genetic disorder in 63 (48.1%) cases, more than half (n = 33) of which had a single gene condition. Postnatal testing revealed an underlying RASopathy in 15 (11.5%) cases. An underlying RASopathy was significantly associated with the severity and timing of polyhydramnios (p < 0.05). CONCLUSION: Focusing on a selected cohort postnatally evaluated by Medical Genetics, our study identified a chromosomal or genetic disorder in almost half of pregnancies complicated by polyhydramnios. Specifically, an underlying RASopathy was found in 11.5% of cases with 13/15 of these cases having additional ultrasound findings.

Measurement of Marginal Placental Cord Insertion by Prenatal Ultrasound Was Found Not to Be Predictive of Adverse Perinatal Outcomes.

OBJECTIVES: The clinical importance of marginal cord insertion (MCI) is currently controversial. In this study, we examined the association between MCI and adverse perinatal outcomes. We also evaluated the ultrasound-measured distance from the site of placental cord insertion (PCI) to the placental margin (PCI distance) and perinatal outcomes. METHODS: This was a retrospective cohort study of MCI and control pregnancies presenting to a single institution between September 2014 and August 2016. Marginal cord insertion was diagnosed on routine anatomy ultrasound scans at 20 weeks' gestation. The primary outcome was fetal intolerance to labor. Secondary outcomes of interest included mode of delivery, gestational age at delivery, Apgar scores at 1 and 5 minutes, birth weight, delivery complications, and neonatal intensive care unit admission. The PCI distance was determined by an ultrasound review. Statistical significance was evaluated by a χ2 analysis, descriptive statistics, Wilcoxon tests, and regression models with log-transformed outcomes, the PCI distance, or both as needed. RESULTS: Of 675 abnormal cord insertion cases, we identified 183 that met inclusion criteria. We found no statistically significant association between MCI and fetal intolerance to labor (odds ratio, 1.24 [95% confidence interval, 0.55-2.80]; P = .71) or secondary outcomes. Furthermore, we found no significant correlation between perinatal outcomes and the PCI distance. CONCLUSIONS: Our study suggests that MCI pregnancies, regardless of the specific PCI distance, might not be at increased risk of adverse perinatal outcomes. This finding questions the need for heightened antepartum surveillance of this patient population.

Obstetric ultrasound quality improvement initiative-utilization of a quality assurance process and standardized checklists.

OBJECTIVE: Our aim was to assess whether mandated completion of an electronic checklist and a quality assurance (QA) process improved obstetric (OB) ultrasound image documentation. STUDY DESIGN: A checklist of mandated images based on the American Institute of Ultrasound in Medicine guidelines was created. A baseline QA assessment was performed with a lead senior sonographer reviewing eight random OB examinations for each sonographer. An electronic checklist was then instituted for all OB examinations on each ultrasound machine. It was mandated that each anatomical structure be checked off during real-time image acquisition. A repeat QA assessment of each sonographer was then performed quarterly. RESULTS: Baseline assessments were performed between September 2011 and November 2011. Out of the 110 examinations analyzed, only 49% were deemed "complete" with none of the sonographers having a 100% complete examination rate. Following institution of the mandated electronic checklist, a repeat assessment revealed an 81% complete examination rate for the next quarter, and 90% were complete at the end of a year. All sonographers improved their image acquisition regardless of baseline skill level at the initial QA. CONCLUSION: A QA process and a mandated standardized electronic checklist improved the image documentation.

Maternal bladder cancer diagnosed at routine first-trimester obstetric ultrasound examination.

BACKGROUND: Bladder cancer is exceedingly rare in pregnancy and most commonly presents with gross hematuria. CASES: We describe two patients with the incidental finding of maternal bladder masses identified during routine first-trimester obstetric ultrasonographic evaluation and an ultimate diagnosis of carcinoma. After referral for urology evaluation and biopsy confirmation of bladder cancer, patients underwent surgical resection during their pregnancies without the need for further treatment and had uncomplicated pregnancy courses. CONCLUSION: The distended maternal urinary bladder at the time of first-trimester ultrasonographic evaluation offers a unique opportunity for examination and early diagnosis of incidental maternal bladder carcinoma.