Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome

Abstract

The median maternal serum alpha-fetoprotein (AFP) level at 14-20 weeks' gestation in 61 pregnancies associated with Down syndrome was 0.72 multiples of the median (MoM) value for a series of 36 652 singleton pregnancies unaffected by Down syndrome or neural-tube defect--a statistically significant reduction. The difference is great enough to form the basis of a screening test. By selecting for amniocentesis women with serum AFP levels less than or equal to 0.5 MoM at 14-20 weeks' gestation (excluding any of these that ultrasound cephalometry shows to have been due to the overestimation of gestational age) 21% of pregnancies with Down syndrome would be identified as well as 5% of unaffected pregnancies. If amniocentesis were offered to all women aged 38 years or more and, in addition, to younger women with serum AFP below specified maternal age-dependent cut-off levels (less than or equal to 1.0 MoM at 37 years, less than or equal to 0.9 at 36, less than or equal to 0.8 at 35, less than or equal to 0.7 at 34, less than or equal to 0.6 at 32-33, less than or equal to 0.5 at 25-31) 40% of pregnancies with Down syndrome and 6.8% unaffected pregnancies would be selected.