Article
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenatal diagnosis - 1 Sept 2020
Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo C
Abstract excerpt
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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.