Hunter A G, Cleveland R H, Blickman J G, Holmes L B
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Teratology. 1996 Nov;54(5):213-8. doi: 10.1002/(SICI)1096-9926(199611)54:5<213::AID-TERA1>3.0.CO;2-0.
Neural tube defects remain the most serious common birth defect and, despite considerable progress in understanding these malformations, the etiology of most cases remains unknown. It has been proposed that the cause may vary with the type and location of the malformation but, if these variables are to be studied, a rigorous classification of cases is required. This has become more important as birth prevalence has fallen, mainly due to prenatal diagnosis and elective termination of pregnancy, and future studies will increasingly require collaboration between centres. In this study we have combined data from Ottawa, Ontario, and Boston, Massachusetts, in an attempt to examine the effect of level of spina bifida on sib occurrence rates and the rates of associated malformations, and to compare the level of lesion when determined radiographically with that recorded on the clinical chart. Malformations appeared to be more frequent with thoracic spina bifida and were more often associated with additional vertebral anomalies. Significant differences were found between the upper level of lesion recorded in the clinical file and that visible radiographically. Sib recurrences were too few for statistical comparison, but the data suggest a higher rate among sibs and more distant relatives of propositi with upper level lesions. There was not evidence to support a greater than expected concordance for level of lesion between sibs.
神经管缺陷仍然是最严重的常见出生缺陷，尽管在理解这些畸形方面取得了相当大的进展，但大多数病例的病因仍然不明。有人提出，病因可能因畸形的类型和位置而异，但如果要研究这些变量，就需要对病例进行严格分类。随着出生患病率的下降，这一点变得更加重要，这主要归因于产前诊断和选择性终止妊娠，未来的研究将越来越需要各中心之间的合作。在本研究中，我们合并了来自安大略省渥太华市和马萨诸塞州波士顿市的数据，试图研究脊柱裂水平对同胞发病率和相关畸形发生率的影响，并比较通过影像学确定的病变水平与临床图表记录的病变水平。畸形在胸段脊柱裂中似乎更常见，并且更常与其他椎体异常相关。临床档案中记录的病变上限与影像学可见的病变上限之间存在显著差异。同胞复发病例太少，无法进行统计学比较，但数据表明，病变上限较高的先证者的同胞及更远亲属中的发病率更高。没有证据支持同胞之间病变水平的一致性高于预期。
