Single-step maternal serum screening for trisomy 21 in the era of combined or integrated screening

Abstract

Single-step maternal serum screening (MSS) in the first (1MSS) or second (2MSS) trimester at maternal age > or =35 years was evaluated in the North Belgian region Flanders, where difficulties are encountered in the general introduction of combined or integrated screening algorithms. The fetal aneuploidy screening database of General Medical Laboratory AML in Antwerp was searched for 2MSS tests between 1992 and 1999 (alpha-fetoprotein, beta-human chorionic gonadotropin (beta-HCG) and unconjugated estriol, cut-off 1:300) and for 1MSS tests between 1999 and 2003 (free beta-HCG and pregnancy-associated plasma protein A, cut-off 1:85). At > or =35 years, the detection rate for trisomy 21 (DR) was 93.8% (15/16) for 2MSS and the screen-positive rate (SPR) was 24.5% (504/2061). For 1MSS, these figures were 85.7% (6/7) and 17.7% (109/615) respectively. To detect one trisomy 21, missed by MSS at > or =35 years of age, an additional number of 1,557 and 506 primary invasive procedures would be needed for 2MMS and 1MSS respectively. We conclude that the performance of both single-step 1MSS and 2MSS at maternal age > or =35 years in Flanders is excellent, even without the combination with ultrasound parameters or integration of first and second trimester parameters. The simplicity of both methods allows to consider them valuable options for fetal aneuploidy screening at advanced maternal age, until high quality combined or integrated screening is accessible to all pregnant women in Belgium.