Anna Kneitel

Increased false positive Down syndrome screening in women with sickle cell anemia.

This study seeks to determine whether there is a higher rate of false positive serum screening for Down syndrome in women with sickle cell anemia and, if so, which markers contribute to the false positive screen.

A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.

Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome.

Evaluation of Umbilical Vein Blood Volume Flow in Preeclampsia by Angle-Independent 3D Sonography: Umbilical Flow in Preeclampsia by 3D Sonography

To investigate the association between umbilical vein blood volume flow and the condition of preeclampsia in an at‐risk maternal patient cohort. Umbilical vein volume flow was quantified by a 3‐dimensional (3D) sonographic technique that overcomes several limitations of standard sonographic flow measurement methods.

Effects of maternal obstructive sleep apnea on fetal growth: a case-control study

ObjectiveTo investigate whether maternal obstructive sleep apnea (OSA) is associated with changes in fetal growth trajectory.Study designRetrospective review of pregnant women who underwent overnight polysomnography. Fetal growth was estimated using sonographic biometric measurements obtained during routine prenatal care. Customized estimated fetal weight and birth weight centiles were calculated and impaired fetal growth was defined as birth weight <10th centile or a slowing of fetal growth by >33% during the last trimester. Logistic regression models were used to determine the relationship between maternal OSA and altered fetal growth after adjusting for potential covariates.ResultsThere were 48 women without and 31 women with OSA. There were no differences in the proportion of infants with birth weight <10th centile between women with and without OSA (23 vs. 25%, p = 1.0), However, the presence of maternal OSA was predictive of impaired fetal growth (aOR 3.9, 95% CI 1.2–12.6). Logistic regression models were repeated using only a slowing of fetal growth in the 3rd trimester (excluding birth weight <10th centile) and OSA predicted a slowing in fetal growth across the 3rd trimester (aOR 3.6, 95% CI 1.4–9.4). Fourteen additional women were treated with positive airway pressure during pregnancy; fetal growth was not significantly different in these women compared to controls.ConclusionObstructive sleep apnea is independently associated with altered fetal growth, which appears to be ameliorated with use of positive airway pressure.

Screening During Pregnancy for Endocrinopathies in the Morbidly Obese [30K]

INTRODUCTION: Many endocrine disorders are associated with obesity, but screening during pregnancy remains controversial. We aimed to determine the prevalence of abnormal carbohydrate metabolism, hypothyroidism, and low vitamin D in a cohort of morbidly obese pregnant women. METHODS: We conducted a retrospective cohort study of pregnant women with BMI greater than or equal to 40 kg/m2 delivering at a tertiary care center from October 2005 to February 2014. Positive screens were defined as hemoglobin A1c (HbA1c) greater than 5.9%; thyroid-stimulating hormone (TSH) greater than 2.5 mIU/L; or 25-hydroxy vitamin D (25OHD) less than 20 ng/mL. Students t test and chi-square test were used. Numbers needed to screen (NNS) were calculated based on published outcome rates. RESULTS: Of 586 women, 348 (59%) underwent screening with HbA1c, TSH, 25OHD, or any combination. Mean BMI in the screened and unscreened groups was similar. Seven percent of the cohort had known diabetes, 6% had thyroid disease, and 5% had vitamin D deficiency. In women without known disease, HbA1c was abnormal in 14 of 121 (12%); TSH was abnormal in 26 of 252 (10%); 25OHD was abnormal in 108 of 164 (66%). NNS with TSH to prevent one case of IQ less than 85 at age 3 was 490. NNS with HbA1c to prevent one case of large for gestational age was 176; to prevent one case of perinatal death was 575. CONCLUSION: Higher prevalence of endocrine disorders in the obese population may support routine assessment and have meaningful clinical implications.