Second trimester screening for Down's syndrome: 7 years experience

OBJECTIVES: To evaluate the effectiveness of the first 7 years of a programme for second trimester antenatal screening for Down's syndrome, using alpha-fetoprotein (alphaFP) and total human chorionic gonadotropin (hCG) as maternal serum markers. METHODS: A clinical biochemistry laboratory providing a screening service for four obstetric units. Women attending for antenatal care who accepted an offer of serum screening for Down's syndrome were tested between 15 and 20 weeks gestation. Down's risk estimates were calculated using maternal serum alphaFP and total hCG results as modifiers of the maternal age related risk. Outcome was determined in collaboration with the regional cytogenetics unit. RESULTS: In 7 years 66,631 women were screened, in whom 108 Down's syndrome pregnancies were identified. Risks for Down's syndrome were reported without a specified cut off recommendation; however, at a cut off of 1 in 250, 72 (66.7%) of the affected pregnancies were screen positive, the false positive rate was 5.8%, and the uptake of amniocentesis 71.2%. The detection rate was higher in women screened before 17 weeks (70.5%) than in those screened at 17 weeks or later (56.7% overall and 20.0% in those under 30 years). The uptake of screening declined gradually from 84% in 1992 to 59.5% in 1998. CONCLUSIONS: Two marker screening using aFP and total hCG is an effective way of screening for Down's syndrome and is widely accepted in the local community. Detection rates were comparable with other second trimester studies using two markers including both total and free beta hCG.