神经管缺损是一种常见的多基因遗传性先天畸形,是最常见的新生儿缺陷,根据孕早期神经管发育受阻导致闭合不全的时期及部位的不同,主要类型有无脑畸形、脊柱裂、脑膨出,目前已成为影响围产儿死亡和致残的主要因素之一,普遍认为其发病机制是由遗传因素与环境因素综合作用结果。本文就近几年有关的流行病学、病因学、产前诊断、早期预防和存在的问题等作一综述。 Neural tube defects is a common polygenic hereditary congenital malformations, is the most common neonatal defects, according to the early development of obstruction during the first trimester of obstruction caused by incomplete closure of the period and the different parts of the main types of anencephaly, spina bifida, Encephalocele has become one of the main factors affecting perinatal death and disability. It is generally believed that the pathogenesis is caused by the combination of genetic factors and environmental factors. This article reviews the recent epidemiology, etiology, prenatal diagnosis, early prevention and existing problems.