Brost, Brian

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with aCOL2A1mutation. To our knowledge, this represents the first case of a persistent notochord associated with aCOL2A1mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.

Abstract Objective: This study aims to evaluate cardiac function in fetuses with intrauterine growth restriction (IUGR) compared with healthy fetuses, using the left modified myocardial performance index (MPI) and the association between MPI and perinatal outcome. Methods: Pregnant women between 34 and 39 weeks of gestation, who met the criteria for IUGR and were scheduled for delivery at an Egyptian tertiary medical center, were prospectively enrolled in the study. Women in the same gestational-age group with uncomplicated pregnancies were included as a control group. MPI was measured in all fetuses. The IUGR group was analyzed based on normal and abnormal umbilical artery (UA) Doppler. Perinatal outcomes were recorded. Results: The mean left MPI was significantly higher in IUGR fetuses with abnormal UA Doppler (mean 0.58±SD 0.093) compared with healthy fetuses (mean 0.45±SD 0.070) (P<0.001). IUGR fetuses with abnormal left MPI showed significantly worse perinatal outcome and increased morbidity compared with the control group. IUGR fetuses with abnormal left MPI also showed significantly worse perinatal outcome compared with IUGR fetuses with normal MPI (whether the UA Doppler was normal or abnormal). The fetal MPI was associated with the severity of fetal compromise in IUGR fetuses based on the perinatal outcome. Conclusion: MPI is a potentially useful tool in evaluating fetuses with suspected IUGR, which is crucial in classifying IUGR pregnancies into critical and non-critical cases and in predicting neonatal outcome.

Podocyturia, the shedding of live podocytes, is present at delivery in women with preeclampsia. The aim of this study was to test whether podocyturia is present earlier in pregnancy and predicts for preeclampsia. We also aimed to compare test characteristics of podocyturia with those of angiogenic factors previously implicated in the pathogenesis of this disorder. We prospectively enrolled 315 women who provided blood and urine samples at the end of the second trimesters of their pregnancies (median, 27 gestational weeks) and within 24 hours of their deliveries (median, 39.5 gestational weeks). Blood samples were analyzed for angiogenic markers, including placental growth factor, the soluble receptor fms-like tyrosine kinase receptor-1 for vascular endothelial growth factor, and endoglin. The urine sediments were analyzed for podocytes, identified by staining for podocin after culturing the urinary sediments for 24 hours. This analysis included all women who developed preeclampsia (n=15), gestational hypertension (n=15), and a subsample of women who remained normotensive throughout pregnancy (n=44), matched for maternal age and number of previous pregnancies to those who developed preeclampsia. At the second trimester collection, all women who developed preeclampsia had podocyturia, compared with none of those who remained normotensive or were diagnosed with gestational hypertension. Podocyturia in the second trimester had a significantly greater sensitivity and specificity for the subsequent diagnosis of preeclampsia than any single angiogenic marker or a combination thereof. Screening for podocyturia at the end of the second trimester may allow for accurate identification of pregnant women at risk for preeclampsia.

In this study, 65% (132/195) of level B/C obstetric recommendations are amenable to randomized clinical trials (RCTs) and seven were identified as most needed. The purpose of the survey was to evaluate levels B and C recommendations in obstetric practice bulletins (PBs) regarding the feasibility of performing RCT to elevate each subject to level A evidence. Eleven geographically dispersed physicians with experience in research reviewed levels B and C recommendations for the ethical and logistical feasibility of performing an RCT. In the 35 obstetric PBs, 195 level B/C recommendations were reviewed. The majority considered 47 (24%) topics unethical for an RCT and thought 16 (11%) did not need an RCT, thus leaving 132 (67%) levels B and C recommendations available for an RCT. Two-thirds of levels B and C recommendations in obstetric PB are amenable to RCTs and potentially becoming level A evidence.