Objective: To examine the association between the risk of neural tube defects (NTD) and maternal serum vitamin B 12 , folate and homocysteine in a high-risk area of China. Design: A case-control study was carried out in Luliang mountain area of Shanxi Province. Subjects/setting: A total of eighty-four NTD pregnancies and 110 matched controls were included in the study; their serum vitamin B 12 and folate concentrations were measured by chemiluminescent immunoenzyme assay and total homocysteine concentrations by fluorescent polarisation immunoassay. Results: Serum vitamin B 12 and folate concentrations were lower in NTD-affected pregnant women than in controls (P , 0?01). Serum total homocysteine was higher in the NTD group than in controls at less than 21 weeks of gestation (P , 0?01). Adjusted odds ratios revealed that women with lower vitamin B 12 (adjusted OR54?96; 95 % CI 1?94, 12?67) and folate (adjusted OR53?23; 95 % CI 1?33, 7?85) concentrations had a higher risk of NTD compared to controls. Based on dietary analysis, less consumption of meat, egg or milk, fresh vegetables and fruit intake would increase the risk of NTD. Conclusions: Lower serum concentrations of folate and vitamin B 12 are related to the increased risk of NTD in high-risk populations. Both folate and vitamin B 12 intake insufficiency could contribute to the increased risk of NTD. A dietary supplement, combining folate and vitamin B 12 , might be an effective measure to decrease the NTD incidence in these areas.

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