First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects.

The aim of this study was to determine the efficacy of combined maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) screening in detecting chromosome defects in the first trimester of pregnancy. Sera of 492 women (previously assayed for MSAFP) were analysed for MShCG under code without knowledge of cytogenetic results. Overall, 48 of 492 patients (9.8 per cent) had either an MSAFP multiple of the median less than or equal to 0.5 or an MShCG beta/alpha ratio multiple of the median less than or equal to 0.25, eight of whom had a fetus with a serious chromosome defect. A third of fetuses with Down's syndrome and 83 per cent with trisomy 18 were detected at a potential 'cost' of providing chorionic villus sampling or amniocentesis in 8.6 per cent of women screened.