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神经管缺陷患者亲属的产前诊断指征。

Inidcations for prenatal diagnosis in relatives of patients with neural tube defects.

作者信息

Lippman-Hand A, Fraser F C, Biddle C J

出版信息

Obstet Gynecol. 1978 Jan;51(1):72-6.

PMID:619340
Abstract

We have reviewed the family histories of children with neural tube defects to determine which relatives are at sufficient risk to be offered amniocentesis for prenatal diagnosis. The recurrence risks for sibs was 6%; therefore, women with one affected child should be made aware of the availability of this test for monitoring subsequent pregnancies. The empiric recurrence risks for various groups of second and third degree relative exceeds 1% only for mothers' sisters' children. The lower values for the other groups may reflect either true biologic differences of reporting biases. Unit the matter is clarified, all sibs of affected children and all sibs of the parents of affected children should be informed of the availability of amniocentesis for monitoring their (or their spouse's) pregnancies.

摘要

我们回顾了神经管缺陷患儿的家族史,以确定哪些亲属有足够的风险接受羊膜穿刺术进行产前诊断。同胞的复发风险为6%;因此,应该让有一个患病孩子的女性了解这项检测可用于监测后续妊娠。仅母亲姐妹的孩子这一二级和三级亲属的不同组别的经验性复发风险超过1%。其他组别的较低数值可能反映了真正的生物学差异或报告偏差。在问题得到澄清之前,应该告知患病孩子的所有同胞以及患病孩子父母的所有同胞,羊膜穿刺术可用于监测他们(或其配偶)的妊娠情况。

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