Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
M EgloffB HervéT QuibelS JaillardG Le BouarK UguenA-H SaliouM ValdugaE PerdriolleC CouttonA-L CostonA CoussementO AnselemC MissirianF BretelleF PrieurC FangetC MutiM-C JacquemotC BeneteauC Le VaillantM VekemansL J SalomonF VialardValérie MalanPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2019)
Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.