Keena B, Sadovnick A D, Baird P A, Hall J G
Am J Med Genet. 1986 Nov;25(3):563-73. doi: 10.1002/ajmg.1320250320.
The purpose of this study is to determine whether couples receiving genetic counselling because of a child with a neural tube defect (NTD) are a selected group and therefore not representative of the general population with respect to sib risks for NTDs. British Columbia (B.C.) provides an excellent opportunity to look at this for several reasons. Firstly, genetic counselling services are centralized. Secondly, there is virtually complete ascertainment of all infants with NTDs in the province. Thirdly, sib risks for NTDs in the general population have been derived previously [McBride, 1979] and, therefore, are available for comparison with the risks for sibships in the clinic populations. In the present study, data were available on 398 sibships in which the index case had anencephaly and/or spina bifida. In all instances, sib risks for the clinic populations did not differ significantly from those for the general population. In addition, congenital malformations other than NTDs did not occur among sibs of index cases more often than expected, based on provincial incidence data.
本研究的目的是确定因孩子患有神经管缺陷(NTD)而接受遗传咨询的夫妇是否为特定群体,因此在NTD同胞风险方面是否不代表一般人群。出于几个原因,不列颠哥伦比亚省(B.C.)提供了一个研究此问题的绝佳机会。首先,遗传咨询服务是集中化的。其次,该省几乎能完全确定所有患有NTD的婴儿。第三,一般人群中NTD的同胞风险先前已得出[麦克布赖德,1979],因此可用于与临床人群中同胞关系的风险进行比较。在本研究中,有398个同胞关系的数据,其中索引病例患有无脑畸形和/或脊柱裂。在所有情况下,临床人群的同胞风险与一般人群的风险没有显著差异。此外,根据省级发病率数据,索引病例的同胞中除NTD外的先天性畸形发生率并未高于预期。