北爱尔兰贝尔法斯特脊柱裂和无脑儿的家族研究（1964年至1968年）
A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968).
作者信息
Nevin N C, Johnston W P
出版信息
J Med Genet. 1980 Jun;17(3):203-11. doi: 10.1136/jmg.17.3.203.
The parents of 226 of the 360 patients with anencephalus or spinal bifida or both, born in Belfast 1964 to 1968, were visited to document the occurrence of these malformations among other relatives. The proportions of sibs with anencephalus and spina bifida were 10.41% for spina bifida index patients and 6.4% for anencephalus. For patients born after the index patients, the proportions were 12.19% and 6.35%, respectively. The overall incidence of either malformation among sibs was 8.87%. This estimate is higher than the 4 to 5% commonly reported and is probably related to the specific background of the Northern Ireland population, which is known to have the highest incidence of CNS malformations in the United Kingdom. The substantial size of this risk indicates the importance of amniocentesis for monitoring subsequent pregnancies of women who have had one child with a CNS malformation.
对1964年至1968年在贝尔法斯特出生的360例无脑儿或脊柱裂或两者皆有的患者中的226例患者的父母进行了走访，以记录这些畸形在其他亲属中的发生情况。脊柱裂指数患者的兄弟姐妹中患脊柱裂的比例为10.41%，患无脑儿的比例为6.4%。对于在指数患者之后出生的患者，相应比例分别为12.19%和6.35%。兄弟姐妹中任一畸形的总体发生率为8.87%。这一估计高于通常报道的4%至5%，可能与北爱尔兰人群的特定背景有关，众所周知，北爱尔兰人群在英国中枢神经系统畸形的发生率最高。这种风险的大小表明，对于有一个孩子患中枢神经系统畸形的妇女，羊水穿刺术对于监测其后续妊娠具有重要意义。
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