Maternal serum alpha-fetoprotein screening for the detection of neural tube defects.

We tested 10,715 low-risk pregnancies in a voluntary maternal serum alpha-fetoprotein screening program for the detection of neural tube defects in California. In all, 5.3 percent of women had one elevated serum level, 3.3 percent were referred for sonography and 1.5 percent for amniocentesis. There were 12 cases of open neural tube defects (1.1 per 1,000); all of the mothers had one elevated serum alphafetoprotein level: nine (75 percent) completed the protocol and the neural tube defects were correctly identified. No normal pregnancies were terminated. The risk of an open neural tube defect occurring was about 1 in 50 after the first abnormal serum level and 1 in 15 at amniocentesis. We found significantly increased risk for fetal death and low birth weight after one elevated serum alpha-fetoprotein level, though the likelihood of a normal pregnancy outcome was about 80 percent. Maternal serum screening was also useful in identifying twin pregnancies and correcting underestimated gestational dates.