Abstract

High free beta human chorionic gonadotropin (beta-hCG) and low alpha-fetoprotein (AFP) levels were found in 47 Asian Down's syndrome pregnancies (median values 2.79 and 0.77 MOM, respectively). At a 5 per cent false-positive rate, free beta-hCG alone would identify 46.8 per cent of Down's syndrome pregnancies, age alone detected 34.5 per cent of affected cases, whilst AFP alone detected 17 per cent and free beta-hCG/AFP MOM ratios detected 48.9 per cent of Down's syndrome cases. When combined with maternal age-specific risk, free beta-hCG could achieve a 59.6 per cent detection rate, with AFP achieving 42.6 per cent, free beta-hCG/AFP MOM ratios 61.7 per cent, and combined free beta-hCG and AFP a detection rate of 63.8 per cent for a 5 per cent false-positive rate. Down's syndrome screening at an early gestational age (before 18 weeks) could achieve a 68 per cent detection rate with a 5 per cent false-positive rate, compared with a 59.1 per cent detection rate for a 5.2 per cent false-positive rate when screening at a late gestational age. The use of free beta-hCG in Down's syndrome screening programmes can yield an improved efficacy in the detection of Down's syndrome in an Asian population.

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