First trimester aneuploidy screening using nuchal translucency, free beta human chorionic gonadotrophin and maternal...

Screening for aneuploidy using maternal age has a low detection rate and high false positive rate. Second trimester maternal serum screening increases trisomy 21 detection and decreases the false positive rate. First trimester screening would enable definitive diagnosis with chorionic villus sampling, and simple surgical termination of affected pregnancies would still be an option. Nuchal translucency (NT), free beta human chorionic gonadotrophin (f beta HCG) and maternal age were assessed in 302 patients before chorionic villus sampling. NT positively and f beta HCG negatively correlated with gestation, but neither correlated with maternal age nor with each other. Both NT and f beta HCG were increased in trisomy 21. NT was increased and f beta HCG was decreased in trisomy 18. Multivariate discriminant analysis enabled 87.5% detection of trisomy 21 in this high-risk population, for a 14% false positive rate. In a simulated normal population, using a risk cut-off of 1 in 250, 71% detection was achieved for a 7% false positive rate. The combination of NT, f beta HCG and maternal age is a simple, readily available and viable first trimester screening strategy.