Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available.

Racial Disparities in Adverse Pregnancy Outcomes and Psychosocial Stress.

Objective: To assess the relationships between self-reported psychosocial stress and preterm birth, hypertensive disease of pregnancy, and small-for-gestational-age (SGA) birth and to assess the extent to which these relationships account for racial and ethnic disparities in these adverse outcomes.

Methods: Self-reported measures of psychosocial stress (perceived stress, depression, racism, anxiety, resilience, and social support) were collected during pregnancy among a racially and ethnically diverse cohort of women enrolled in a prospective observational study of nulliparous women with singleton pregnancies, from eight clinical sites across the United States, between October 2010 and May 2014. The associations of preterm birth, hypertensive disease of pregnancy, and SGA birth with the self-reported measures of psychosocial stress as well as with race and ethnicity were evaluated.

Accuracy of Blood Pressure Measurement Devices in Pregnancy: A Systematic Review of Validation Studies.

The accurate measurement of blood pressure (BP) in pregnancy is essential to guide medical decision making that affects both mother and fetus. The aim of this systematic review was to determine the accuracy of ambulatory, home, and clinic BP measurement devices in pregnant women. We searched Ovid MEDLINE, The Cochrane Library, EMBASE, CINAHL EBSCO, ClinicalTrials.

Adverse Maternal and Neonatal Outcomes in Indicated Compared with Spontaneous Preterm Birth in Healthy Nulliparas: A Secondary Analysis of a Randomized Trial.

Objective: To compare the risks of adverse maternal and neonatal outcomes associated with spontaneous (SPTB) versus indicated preterm births (IPTB).

Methods: A secondary analysis of a multicenter trial of vitamin C and E supplementation in healthy low-risk nulliparous women. Outcomes were compared between women with SPTB (due to spontaneous membrane rupture or labor) and those with IPTB (due to medical or obstetric complications).

Cervical funneling or intra-amniotic debris and preterm birth in nulliparous women with midtrimester cervical length less than 30 mm.

Objective: To evaluate whether the presence of cervical funneling or intra-amniotic debris identified in the second trimester is associated with a higher rate of preterm birth (PTB) in asymptomatic nulliparous pregnant women with a midtrimester cervical length (CL) less than 30 mm (i.e. below the 10 percentile).

A Multicenter Investigation of Factors Influencing Women's Participation in Clinical Trials.

Objective: To identify factors that influence women's participation in clinical research.

Methods: We administered a survey in outpatient and inpatient populations of Obstetrics and Gynecology facilities of six institutions located in four states. The survey included questions regarding any of the participant's past experiences in clinical research and the factors that would influence their participation in clinical research.

Defining failed induction of labor.

Background: While there are well-accepted standards for the diagnosis of arrested active-phase labor, the definition of a "failed" induction of labor remains less certain. One approach to diagnosing a failed induction is based on the duration of the latent phase. However, a standard for the minimum duration that the latent phase of a labor induction should continue, absent acute maternal or fetal indications for cesarean delivery, remains lacking.

Association of Maternal Obesity With Longitudinal Ultrasonographic Measures of Fetal Growth: Findings From the NICHD Fetal Growth Studies-Singletons.

Importance: Despite the increasing prevalence of pregravid obesity, systematic evaluation of the association of maternal obesity with fetal growth trajectories is lacking.

Objective: To characterize differences in fetal growth trajectories between obese and nonobese pregnant women, and to identify the timing of any observed differences.

Design, Setting, And Participants: The Eunice Kennedy Shriver National Institute of Child Health and Human Development Fetal Growth Studies-Singletons study enrolled cohorts of pregnant women at 12 US health care institutions.

Racial and Ethnic Differences in Utilization of Labor Management Strategies Intended to Reduce Cesarean Delivery Rates.

Objective: To examine whether racial and ethnic differences exist in the frequency of and indications for cesarean delivery and to assess whether application of labor management strategies intended to reduce cesarean delivery rates is associated with patient's race and ethnicity.

Methods: This is a secondary analysis of a multicenter observational obstetric cohort. Trained research personnel abstracted maternal and neonatal records of greater than 115,000 pregnant women from 25 hospitals (2008-2011).

The Association of Decision-to-Incision Time for Cesarean Delivery with Maternal and Neonatal Outcomes.

Objective: The objective of this study was to estimate whether the decision-to-incision (DTI) time for cesarean delivery (CD) is associated with differences in maternal and neonatal outcomes.

Methods: This analysis is of data from women at 25 U.S.

Neonatal Morbidity of Small- and Large-for-Gestational-Age Neonates Born at Term in Uncomplicated Pregnancies.

Objective: To compare morbidity among small-for-gestational-age (SGA; birth weight less than the 10th percentile for gestational age), appropriate-for-gestational-age (AGA; birth weight 10th to 90th percentile; reference group), and large-for-gestational-age (LGA; birth weight greater than the 90th percentile) neonates in apparently uncomplicated pregnancies at term (37 weeks of gestation or greater).

Methods: This secondary analysis, derived from an observational obstetric cohort of 115,502 deliveries, included women with apparently uncomplicated pregnancies of nonanomalous singletons who had confirmatory ultrasound dating no later than the second trimester and who delivered between 37 0/7 and 42 6/7 weeks of gestation. We used two different composite neonatal morbidity outcomes: hypoxic composite neonatal morbidity for SGA and traumatic composite neonatal morbidity for LGA neonates.

Predictive Characteristics of Elevated 1-Hour Glucose Challenge Test Results for Gestational Diabetes.

Objective: To estimate the optimal screen-positive 1-hour 50 gm glucose challenge test (GCT) threshold for gestational diabetes (GDM) and predictive characteristics of increasing screen-positive GCT threshold values (135-199 mg/dL) for GDM.

Study Design: Secondary analysis of a multicenter mild GDM study. At 24-30 weeks' gestation, women with elevated GCT (135-199 mg/dL) completed a diagnostic 3-hour oral glucose tolerance test (OGTT).

Role of early second-trimester uterine artery Doppler screening to predict small-for-gestational-age babies in nulliparous women.

Background: Trophoblastic invasion of the uterine spiral arteries substantially increases compliance to accommodate increased blood flow to the placenta. Failure of this process impedes uterine artery blood flow, and this may be detected by uterine artery Doppler flow studies. However, the clinical utility of uterine artery Doppler flow studies in the prediction of adverse pregnancy outcomes in a general population remains largely unknown.

Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts.

Dynamic maternal and fetal Notch activity and expression in placentation.

Introduction: Murine placentation requires trophoblast Notch2, while the Notch ligand, JAGGED1, is reduced in invasive trophoblasts from women with preeclampsia. However, the placental cells with active Notch signaling and expression of other Notch proteins and ligands in placentation have yet to be defined. We sought to identify endothelial cell and trophoblast subtypes with canonical Notch signaling in the decidua and placenta and correlate this to expression of Notch proteins and ligands.

Activity restriction and risk of preterm delivery.

Purpose: We sought to determine whether activity restriction (AR) in a cohort of women at high risk for preterm delivery is associated with the risk of preterm delivery.

Materials And Methods: This is a secondary analysis of the Maternal-Fetal Medicine Units MFMU's Preterm Prediction Study; a multicenter prospective cohort study designed to identify risk factors of preterm birth (PTB). The study group consisted of women with a singleton gestation that at their first study visit (23-24 weeks) had at least one of the following criteria: patient reported contractions, severe back pain, a cervical length <15 mm, spotting, protruding membranes, or positive fetal fibronectin.

The association among cytochrome P450 3A, progesterone receptor polymorphisms, plasma 17-alpha hydroxyprogesterone caproate concentrations, and spontaneous preterm birth.

Background: Infants born <37 weeks' gestation are of public health concern since complications associated with preterm birth are the leading cause of mortality in children <5 years of age and a major cause of morbidity and lifelong disability. The administration of 17-alpha hydroxyprogesterone caproate reduces preterm birth by 33% in women with history of spontaneous preterm birth. We demonstrated previously that plasma concentrations of 17-alpha hydroxyprogesterone caproate vary widely among pregnant women and that women with 17-alpha hydroxyprogesterone caproate plasma concentrations in the lowest quartile had spontaneous preterm birth rates of 40% vs rates of 25% in those women with higher concentrations.

Maternal Depressive Symptoms, Perceived Stress, and Fetal Growth.

Objectives: To determine whether longitudinal fetal growth is altered among pregnant women reporting greater perceived stress or more symptoms of depression.

Methods: This analysis was based on a multicenter longitudinal study of fetal growth. Women were screened at gestational ages of 8 weeks to 13 weeks 6 days for low-risk status and underwent serial sonographic examinations.

Racial or Ethnic and Socioeconomic Inequalities in Adherence to National Dietary Guidance in a Large Cohort of US Pregnant Women.

Background: The significance of periconceptional nutrition for optimizing offspring and maternal health and reducing social inequalities warrants greater understanding of diet quality among US women.

Objective: Our objective was to evaluate racial or ethnic and education inequalities in periconceptional diet quality and sources of energy and micronutrients.

Design: Cross-sectional analysis of data from the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be cohort.

A Parameterized Ultrasound-Based Finite Element Analysis of the Mechanical Environment of Pregnancy.

Preterm birth is the leading cause of childhood mortality and can lead to health risks in survivors. The mechanical functions of the uterus, fetal membranes, and cervix have dynamic roles to protect the fetus during gestation. To understand their mechanical function and relation to preterm birth, we built a three-dimensional parameterized finite element model of pregnancy.

Predictive Accuracy of Serial Transvaginal Cervical Lengths and Quantitative Vaginal Fetal Fibronectin Levels for Spontaneous Preterm Birth Among Nulliparous Women.

Importance: Spontaneous preterm birth is a leading cause of infant mortality. Prediction, largely based on prior pregnancy outcomes, is not possible in women pregnant for the first time.

Objective: To assess the accuracy of universal screening to predict spontaneous preterm birth in nulliparous women using serial measurements of vaginal fetal fibronectin levels and cervical length.