Preventing Birth Defects: Implications and Prospects

Periconceptional administration of folic acid can reduce a woman's risk of having a fetus or infant with a neural-tube defect. As part of a public health campaign conducted from 1993 to 1995 in an area of China with high rates of neural-tube defects (the northern region) and one with low rates (the southern region), we evaluated the outcomes of pregnancy in women who were asked to take a pill containing 400 microg of folic acid alone daily from the time of their premarital examination until the end of their first trimester of pregnancy. Among the fetuses or infants of 130,142 women who took folic acid at any time before or during pregnancy and 117,689 women who had not taken folic acid, we identified 102 and 173, respectively, with neural-tube defects. Among the fetuses or infants of women who registered before their last menstrual period and who did not take any folic acid, the rates of neural-tube defects were 4.8 per 1000 pregnancies of at least 20 weeks' gestation in the northern region and 1.0 per 1000 in the southern region. Among the fetuses or infants of the women with periconceptional use of folic acid, the rates were 1.0 per 1000 in the northern region and 0.6 per 1000 in the southern region. The greatest reduction in risk occurred among the fetuses or infants of a subgroup of women in the northern region with periconceptional use who took folic acid pills more than 80 percent of the time (reduction in risk, 85 percent as compared with the fetuses or infants of women who registered before their last menstrual period and who took no folic acid; 95 percent confidence interval, 62 to 94 percent) [corrected]. In the southern region the reduction in risk among the fetuses or infants of women with periconceptional use of folic acid was also significant (reduction in risk, 41 percent; 95 percent confidence interval, 3 to 64 percent). Periconceptional intake of 400 microg of folic acid daily can reduce the risk of neural-tube defects in areas with high rates of these defects and in areas with low rates.

To examine changes in periconceptional folic acid supplementation behaviour among Chinese women of reproductive age after the implementation of a folic acid supplementation programme. Two cross-sectional surveys were conducted. One survey was before (2002-2004) and the other was after (2011-2012) implementation of the programme, both were conducted in two areas of China with different prevalence of neural tube defects. Information on supplementation behaviours was collected in face-to-face interviews with women early in their pregnancy. A total of 1257 and 1736 pregnant women participated before and after the programme, respectively. The rate of periconceptional folic acid supplementation increased from 15 % to 85 % in the high-prevalence population and from 66 % to 92 % in the low-prevalence population. However, more than half of the women began taking the supplement after learning they were pregnant. The proportion of women who began taking folic acid before their last menstrual period decreased after the programme in rural areas with both a high and low prevalence of neural tube defects. Although periconceptional folic acid supplementation among Chinese women increased substantially after the programme, supplementation was often initiated too late to be effective in preventing neural tube defects. Educational and promotional campaigns should focus on how to increase the rate of folic acid supplementation before pregnancy.

Folic acid (FA) supplementation prevents neural tube defects, but there are mixed results for its ability to prevent limb reduction defects. We examined whether a preventive effect of FA supplementation exists for congenital limb reduction defects in a large population in China.