Objectives We conducted a systematic review and meta‐analysis to determine the
diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural …

An interdisciplinary fetal-neonatal neurology (FNN) program over the first 1,000 days
teaches perspectives of the neural exposome that are applicable across the life span. This …

Objective Prenatally detected central nervous system (CNS) anomalies present a diagnostic
challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and …

Objectives To determine (1) the diagnostic yield and turnaround time (TAT) of two
consecutive prenatal exome sequencing (ES) pathways,(2) the evolution of the fetal …

As prenatal exome sequencing becomes integrated into clinical care, it is critical that
providers caring for women with fetal anomalies recognize not only the benefits, but also the …

Objectives To determine the incremental diagnostic yield of exome sequencing (ES) after
negative chromosomal microarray analysis (CMA) in cases of prenatally diagnosed …

Genetic diseases disrupt the functionality of an infant's genome during fetal–neonatal
adaptation and represent a leading cause of neonatal and infant mortality in the United …

Objectives Determine the incremental diagnostic yield of prenatal exome sequencing (pES)
over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous …

Non‐immune hydrops fetalis (NIHF) has multiple genetic etiologies diagnosable by exome
sequencing (ES). We evaluated the yield of prenatal ES for NIHF, and the contribution of …

OBJECTIVE This study aimed to determine the incremental diagnostic yield of prenatal
exome sequencing after negative chromosomal microarray analysis results in prenatally …