Screening for Down's syndrome in early and late first and second trimester using six maternal serum markers

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Abstract
The efficiency of six maternal serum markers for Down's syndrome (DS), alpha fetoprotein (AFP), human chorionic gonadotropin (hCG), free β‐hCG, pregnancy‐associated plasma protein‐A (PAPP‐A), the proform of eosinophil major basic protein (ProMBP), pregnancy‐specific‐β‐1‐glycoprotein (SP1), and combinations thereof, was examined. Discriminant analysis in 156 DS pregnancies and 546 controls defined three effective combinations of serum marker logMoMs (multiples of the median in control samples) in three gestational age windows, i.e. Index I (weeks 7–9) = 0.52 logMoM ProMBP + 0.28 logMoM PAPP‐A − logMoM SP1; Index II (weeks 10–12) = 1.94 logMoM free β‐hCG − logMoM SP1, and Index III (weeks 15–19) = 0.78 logMoM free β‐hCG + 1.12 logMoM ProMBP − logMoM AFP. The estimated detection rates of indices and age for a false‐positive rate (FPR) of 5% were 73% for Index I, 69% for Index II, and 60% for Index III. Including the ultrasound marker nuchal translucency, using a DS at term risk of 1 : 400 as cut‐off, the detection rates of the indices increased to 86, 83, and 82% for FPRs of 4.3, 4.1, and 5.8%, respectively. The indices are promising markers for screening for DS.