Atypicality index as an add-on to combined first-trimester screening for chromosomal aberrations.

Kasper Gadsbøll Ida VogelL H PedersenS E KristensenA WrightD WrightOlav Bennike Bjørn Petersen

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2023)

As an add-on to cFTS, the atypicality index identifies women with typical measurement profiles which may act as reassurance, whereas atypical profiles may warrant specialist referral and further investigations. In pregnancies at low risk from cFTS but with a highly atypical distribution of NT, PAPP-A, and β-hCG, the risk of a chromosomal aberration is substantially increased. The atypicality index optimizes the interpretation of pre-existing prenatal screening profiles and is not limited to cFTS markers or EFW. This article is protected by copyright. All rights reserved.

Keyphrases

copy number
pregnant women
genome wide
primary care
palliative care
gestational age
pregnancy outcomes