Population screening for fetal trisomy 21: easy access to screening should be balanced against a uniform ultrasound protocol

Wilfried J A Gyselaers; Annie J Vereecken; Erik J H Van Herck; Dany P L Straetmans; Eric T M de Jonge; Willem U A M Ombelet; Jan G Nijhuis

doi:10.1002/pd.1217

Population screening for fetal trisomy 21: easy access to screening should be balanced against a uniform ultrasound protocol

Prenat Diagn. 2005 Nov;25(11):984-90. doi: 10.1002/pd.1217.

Authors

Wilfried J A Gyselaers¹, Annie J Vereecken, Erik J H Van Herck, Dany P L Straetmans, Eric T M de Jonge, Willem U A M Ombelet, Jan G Nijhuis

Affiliation

¹ Department of Obstetrics and Gynaecology, Ziekenhuis Oost Limburg, Genk, Belgium. wilfried.gyselaers@zol.be

PMID: 16240322
DOI: 10.1002/pd.1217

Abstract

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.

Publication types

Evaluation Study

MeSH terms

Adult
Belgium
Chorionic Gonadotropin, beta Subunit, Human / blood*
Down Syndrome / diagnosis*
Female
Fetal Diseases / diagnosis
Humans
Mass Screening
Maternal Age
Nuchal Translucency Measurement*
Pregnancy
Pregnancy Trimester, First
Pregnancy-Associated Plasma Protein-A / analysis*
Prenatal Diagnosis / methods*
Retrospective Studies
Ultrasonography, Prenatal

Substances

Chorionic Gonadotropin, beta Subunit, Human
Pregnancy-Associated Plasma Protein-A