Objectives To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for
monogenic disorders in fetuses with structural malformations and normal results on …

Unexpected fetal abnormalities detected through ultrasound scanning in pregnancy may
have a monogenic aetiology but are difficult to diagnose. Next generation sequencing now …

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

Introduction The aim of this retrospective cohort study was to determine the potential
diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on …

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but
relevant clinical studies in the field of prenatal diagnosis are limited. The present study …

Objective To explore the indications for and diagnostic outcomes of fetal exome sequencing
in a tertiary referral center. Methods Between 2012 and 2017, 77 unrelated fetal samples …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Objective The purpose of this study was to explore the diagnostic yield and clinical utility of
trio‐based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide …

Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐
making and management. In several small series, prenatal whole exome sequencing (WES) …