Related Experiment Video
Updated: Aug 15, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Population screening for fetal trisomy 21: easy access to screening should be balanced against a uniform ultrasound
Wilfried J A Gyselaers1, Annie J Vereecken, Erik J H Van Herck
1Department of Obstetrics and Gynaecology, Ziekenhuis Oost Limburg, Genk, Belgium. wilfried.gyselaers@zol.be
Objectives:
To evaluate the performance of a first-trimester fetal aneuploidy screening program, with a documented underestimation of nuchal translucency thickness measurements (NT) compared to the Fetal Medicine Foundation (FMF) reference range.
Methods:
We analysed the data of Algemeen Medisch Laboratorium (AML) in Antwerp, Belgium, on combined screening with pregnancy-associated plasma protein-A (PAPP-A), free beta-human chorionic gonadotropin (FB-hCG) and NT. NT-multiples of the median (MoM), relative to the FMF reference range, were used for risk calculations.
Results:
The proportion of first-trimester screening tests in the total of serum screening tests increased from 1.3% (125/9424) in 2000 to 53.1% (6577/12 377) in 2003. Only 11.4% (1514/13 267) of NT measurements were performed according to FMF criteria. The 80.8% (21/26) trisomy 21 (T21) detection rate (DR) at cut off 1:300 resulted from maternal serum screening. NT measurements did not add to this DR, but reduced the false-positive rate from 16.8% (2212/13181) to 8.6% (1130/13181). Only 23.8% (5/21) of T21 detections were by FMF trainees.
Conclusion:
Easy access to screening and maternal serum parameters accounted for the majority of T21 detections in our first-trimester combined screening program.
