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 evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for
monogenic disorders in fetuses with structural malformations and normal results 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 determine the diagnostic yield of exome sequencing (ES) above that of
chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem …

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

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

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

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

Purpose We investigated the diagnostic and clinical performance of trio exome sequencing
(ES) in parent–fetus trios where the fetus had sonographic abnormalities but normal …

Purpose Exome sequencing (ES) is an efficient tool to diagnose genetic disorders
postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses …