Khoury M J, Erickson J D, James L M
Am J Epidemiol. 1982 Apr;115(4):538-48. doi: 10.1093/oxfordjournals.aje.a113335.
The epidemiology of neural tube defects was reviewed, using data from two birth defects surveillance systems: the nationwide Birth Defects Monitoring Program and the Metropolitan Atlanta Congenital Defects Program, for 1970-1978 and 1968-1979, respectively. After excluding cases with recognized causes, neural tube defects were divided into two major groups: "singles" and "multiples," depending on the presence of associated major defects. Only singles, which accounted for the majority of cases, were shown to have the well-known epidemiologic characteristics of neural tube defects: marked predominance of females and whites, geographic variation with an east-to-west gradient, and decreasing rates over time. On the other hand, multiples had no excess of females and occurred less predominantly in whites; moreover, their rates showed no geographic variation and little or no downward trends over time. The presence of associated defects indicates that neural tube defects are epidemiologically and probably etiologically heterogeneous. It is suggested that analytic studies of neural tube defects may be more rewarding if they try to identify different risk factors associated with various subgroups. This approach to the study of birth defects may provide better clues to their etiology and pathogenesis.
利用分别来自两个出生缺陷监测系统的数据，对神经管缺陷的流行病学进行了综述。这两个系统分别是1970 - 1978年的全国出生缺陷监测项目以及1968 - 1979年的亚特兰大大都会先天性缺陷项目。在排除已知病因的病例后，神经管缺陷被分为两大类：“单发”和“多发”，分类依据是是否存在相关的主要缺陷。只有占病例大多数的单发神经管缺陷表现出神经管缺陷众所周知的流行病学特征：女性和白人明显占主导，存在从东到西梯度变化的地理差异，以及随着时间推移发病率下降。另一方面，多发神经管缺陷女性没有过多，在白人中也不那么占主导；此外，其发病率没有地理差异，随着时间推移几乎没有下降趋势。相关缺陷的存在表明神经管缺陷在流行病学上以及可能在病因学上是异质性的。有人提出，如果对神经管缺陷的分析研究尝试识别与不同亚组相关的不同风险因素，可能会更有成效。这种研究出生缺陷的方法可能会为其病因和发病机制提供更好的线索。
