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

Objective To determine the diagnostic yield of exome sequencing (ES) above that of
chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem …

Objective About 3% of newborns show malformations, with about 20% of the affected having
genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly …

Objective To determine the incremental yield of exome sequencing (ES) over chromosomal
microarray analysis (CMA) or karyotyping in prenatally diagnosed non‐immune hydrops …

Objective Studies have shown that prenatal exome sequencing (PES) improves diagnostic
yield in cases of fetal structural malformation. We have retrospectively analysed PES cases …

Purpose Nonimmune hydrops fetalis (NIHF) presents as life-threatening fluid collections in
multiple fetal compartments and can be caused by both genetic and non-genetic etiologies …

Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for
cytogenetics and molecular testing.“Structural anomalies” include non-transient anatomic …

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 …

The introduction of Next Generation Sequencing (NGS) technologies has exerted a
significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed …

As the use of genomic sequencing (GS) in the prenatal setting becomes more widespread,
laboratories and clinicians will be tasked with making decisions about whether to offer …