Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

Jezid Enrique Miranda-QuinteroF Paz Y MiñoV BorobioC BadenasL Rodriguez-RevengaMontse Pauta Antoni Borrell

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2020)

cfDNA does not appear to be the appropriate genetic test in fetuses with NT > 99th centile, given that it would miss 12-19% of genetic anomalies in this group. Additionally, first-trimester ultrasound will identify a major structural abnormality in 11% of the fetuses with NT > 99th centile and no genetic anomaly. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Keyphrases

genome wide
copy number
gestational age
magnetic resonance imaging
gene expression
systematic review
computed tomography
pregnancy outcomes