Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Rhiannon MellisR Y EberhardtS J Hamiltonnull nullD J McMullanMark David KilbyE R MaherM E HurlesJ L GiordanoV AggarwalD B GoldsteinR J WapnerL S Chitty

Published in: BJOG : an international journal of obstetrics and gynaecology (2021)

The diagnostic yield of prenatal ES is low for fetuses with isolated increased NT but significantly higher where there are additional structural anomalies. Prenatal ES may not be appropriate for truly isolated increased NT but timely, careful ultrasound scanning to identify other anomalies emerging later can direct testing to focus where there is a higher likelihood of diagnosis.

Keyphrases

pregnant women
magnetic resonance imaging
high resolution
computed tomography
gene expression
mass spectrometry
copy number
contrast enhanced ultrasound