神经管畸形(neural tube defects,NTDs)是指由于在胚胎发育过程中,神经管闭合不全所引起的一组出生缺陷,包括无脑儿、脊柱裂、脑积水、脑或脑脊膜膨出等,其危害极大,严重影响患儿的生理发育和生活质量,给家庭和社会带来沉重的精神压力和经济负担。大多数研究认为神经管畸形是多因素多基因的遗传疾病,是遗传、环境、营养因素共同作用、交互影响的结果,目前还不能用一种单一原因解释该疾病的发生。本文主要从导致神经管畸形发生的叶酸代谢酶基因多态性、神经管形态学方面的相关基因研究等做一综述。 Neural tube defects (NTDs) are a group of birth defects caused by incomplete neural tube closure during embryonic development, including anencephaly, spina bifida, hydrocephalus, encephalic or meningeal bulging Etc. It is extremely harmful and seriously affects the children’s physical development and quality of life and brings heavy mental pressure and financial burden to families and society. Most studies believe that neural tube defects are multifactorial polygenic genetic diseases, genetic, environmental, nutritional factors together, the interaction of the results, the current can not explain the occurrence of a single cause of the disease. This article mainly reviews the gene polymorphisms of folic acid metabolizing enzyme and the related gene of neural tube in neural tube defects.