Prevention of Neural Tube Defects

P N Kirke, The Health Research Board, Dublin,

Ireland

J M Scott, Trinity College, Dublin, Ireland

© 2005 Elsevier Ltd. All rights reserved.

Neural tube defects (NTDs) are major congenital malformations of the central nervous system resulting in fetal and perinatal death and severe handicap in the majority of survivors. The finding that folic acid can prevent most NTDs ranks as one of the most important medical research discoveries in recent times. In this article, the epidemiology of NTDs is reviewed, focusing primarily on the role of folic acid and, to a lesser extent, vitamin B12 in the etiology and prevention of these malformations. The causes of the approximately 30% of NTDs that are estimated not to be related to folate are also briefly considered. The mechanisms underlying the link between folate, vitamin B12, and NTD etiology are examined, and the rapidly expanding research literature on genetic risk factors is reviewed. The main issues in using folic acid to prevent NTDs are discussed: ways to increase folate/folic acid intakes, supplementation, fortification, and safety. The role of other nutrients in NTD prevention is considered. Recommendations on using folic acid to prevent NTDs have been issued by various national health authorities and the main points in these recommendations are presented.

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