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

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

Background Exome sequencing (ES) is becoming more widely available in prenatal
diagnosis. However, data on its clinical utility and integration into clinical management …

Purpose Previous studies have reported that prenatal exome sequencing (pES) can detect
monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging …

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 …

Background Prenatal exome sequencing (ES) for monogenic disorders in fetuses with
structural anomalies increases diagnostic yield. In England there is a national trio ES service …

WES has proven to be a disrupting technology, enabling genetic diagnosis for pregnancies
complicated by previously unexplained foetal abnormalities, and revealing a significant …

Objective To investigate the genetic etiology of skeletal dysplasia in highly selected fetuses
during the first and second trimesters using deep phenotyping and exome sequencing (ES) …

Establishing the diagnosis of a fetal genetic disease in utero expands decision-making
opportunities for individuals during pregnancy and enables providers to tailor prenatal care …

Introduction Nonimmune hydrops fetalis (NIHF) has varied etiology. We assessed the
etiological spectrum and evaluated the utility of fetal whole exome sequencing (fWES) for …