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神经管畸形（neural tube defects，NTDs）是一种最常见的严重中枢神经系统先天性畸形，在世界各地均有发生。它是造成流产、死产的主要原因之一，即便胎儿存活，也严重影响患儿的生长发育和生活质量，同时给家庭和社会带来沉重的精神压力和经济负担。神经管畸形的发生绝大多数是由遗传因素与环境因素相互作用的结果，若孕妇在孕早期缺乏叶酸、高热、接触射线、服用药物、感染或发生妊娠期糖尿病等条件下，结合遗传因素作用，均有可能导致神经管畸形的发生，但其目前其的确切病因及其发病机制仍有待深入研究。大量研究表明，在孕妇血清中低叶酸、低维生素B12 水平及高血浆同型半胱氨酸（Hcy）水平，都与NTDs 的发生密切相关。本文主要围绕同型半胱氨酸的代谢，从分子水平和基因水平对与神经管畸形相关的各因素做一综述。

英文摘要:

Neural tube defects ( NTDs) are one of the most common serious congenital malformations on central nervous system, which can occur all over the world. It causes miscarriage and stillbirth, even if the fetus survived , it will still affect the children's development and quality of life. At the same time, it brings our family and society more stress and heavier financial burden. The most NTDs are induced by the interaction of genetic and environmental factors. Lacking folic acid, suffering high fever, close to radiation, taking medication, being infected with or having gestational diabetes in early pregnancy, combined with genetic factors, they are all likely to lead to neural tube defects. A large number of studies have shown that low folic acid, low vitamin B12 level and high plasma homocysteine (Hcy) level in the blood serum of pregnant women are closely related to the occurrence of NTDs. This article reviews the pathogens which result in neural tube defects through the molecular level and gene level on homocysteine metabolism.

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