Nicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, Arjen J Scheper, Rianne Kinds, Julia El Mecky, Hanna Breet, Joke B G M Verheij, Ron Suijkerbuijk, Leonie K Duin, Gwendolyn T R Manten, Irene M van Langen, Rolf H Sijmons, Birgit Sikkema-Raddatz, Helga Westers, Cleo C van Diemen
OBJECTIVE: Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield. METHODS: We prospectively studied 55 fetuses...
September 2020: Prenatal Diagnosis