Obstet Gynecol. 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412.
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4). Importantly, and in contrast to many other congenital abnormalities, primary prevention of NTDs is possible with folic acid. In addition, prenatal screening and diagnosis are widely available, and fetal surgery has improved outcomes for some newborns. The purpose of this document is to provide information about NTDs and make management recommendations for the pregnancy complicated by a fetal NTD.
神经管缺陷（NTDs）是中枢神经系统和脊柱的先天性结构异常。神经管缺陷可能作为一种孤立的畸形出现，也可能与其他畸形同时存在，作为遗传综合征的一部分，或作为致畸暴露的结果（1）。神经管缺陷是继心脏畸形之后第二大常见的主要先天畸形（2），其流行程度因地理位置、种族和环境因素而异（3）。结局和残疾程度取决于病变的水平和范围；例如，无脑畸形无法存活，但大多数脊柱裂婴儿在接受手术修复后可以存活（4）。重要的是，与许多其他先天性异常不同，神经管缺陷可以通过叶酸进行一级预防。此外，产前筛查和诊断广泛可用，胎儿手术也改善了一些新生儿的结局。本文旨在提供关于神经管缺陷的信息，并为妊娠合并胎儿神经管缺陷的情况提供管理建议。
