Is impaired folate absorption a factor in neural tube defects?

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Abstract
Neural tube defects (NTDs) are among the most prevalent debilitating birth defects worldwide. By 1992, after a series of trials and intervention studies, the scientific world was finally convinced that NTDs could be substantially prevented by maternal periconceptional supplementation with folic acid. Nearly a decade has elapsed since then, but despite vigorous research efforts it is fair to say that little progress has been made in answering the question of how folic acid actually affords this protection. Phenotypically, there are few clues as to which folate-related process is not functioning properly in NTD-affected pregnancies. However, it is widely acknowledged that the etiology of NTDs falls into the broad category of an interaction of multiple genes superimposed on a high-risk environment. The key topics to address, therefore, are which interactive or folate-related genes confer the genetic predisposition and what constitutes the high-risk environment. A good starting point has been to ask whether low maternal folate status provides the high-risk environment and whether this low status is itself driven by genetic factors.