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

Kasper Gadsbøll Ida Vogel Lars Henning Petersen S 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 (2024)

As an add-on to cFTS, the atypicality index identifies women with typical measurement profiles, which may provide reassurance, whereas atypical profiles may warrant specialist referral and further investigation. In pregnancies identified as low risk on 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. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Keyphrases

copy number
primary care
magnetic resonance imaging
pregnant women
palliative care
preterm birth
ultrasound guided
gestational age