A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Nicole Corsten-JanssenKatelijne BoumanJanouk C D DiphoornArjen J ScheperRianne KindsJulia El MeckyHanna BreetJoke B G M VerheijRon SuijkerbuijkLeonie K DuinGwendolyn T R MantenIrene M van LangenRolf H SijmonsBirgit Sikkema-RaddatzHelga WestersCleo C van Diemen

Published in: Prenatal diagnosis (2020)

Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.

Keyphrases

magnetic resonance imaging
pregnant women
clinical practice
single cell
quality improvement
copy number
gene expression
ultrasound guided
quantum dots