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高龄孕产妇产前诊断前的遗传咨询:一项重要的医疗保障措施。

Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard.

作者信息

Rubin S P, Malin J, Maidman J

出版信息

Obstet Gynecol. 1983 Aug;62(2):155-9.

PMID:6866356
Abstract

Genetic counseling before amniocentesis has been advocated by many geneticists with little evidence to support their contention. Records of patients referred exclusively for advanced maternal age were evaluated for additional diagnostic information obtained from the genetic counseling process that could place these patients at additional risks for previously unsuspected fetal abnormalities. A significant number of patients (43.3%) were at additional risk or had significant concerns regarding one or more hereditary or congenital disorders requiring extensive genetic counseling. The results of the present study provide a scientific basis for the consideration of genetic counseling as a standard part of all prenatal diagnostic procedures.

摘要

许多遗传学家主张在羊膜穿刺术前进行遗传咨询,但几乎没有证据支持他们的观点。对仅因高龄产妇转诊的患者记录进行评估,以获取从遗传咨询过程中获得的额外诊断信息,这些信息可能使这些患者面临先前未被怀疑的胎儿异常的额外风险。相当一部分患者(43.3%)面临额外风险,或对一种或多种需要广泛遗传咨询的遗传性或先天性疾病存在重大担忧。本研究结果为将遗传咨询视为所有产前诊断程序的标准组成部分提供了科学依据。

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