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羊膜穿刺术前遗传咨询中家族谱系的构建。

Construction of a family pedigree in genetic counseling before amniocentesis.

作者信息

Langer A, Kudart E

机构信息

Department of Obstetrics and Gynecology, Aultman Hospital, Canton, OH 44710.

出版信息

J Reprod Med. 1990 Jul;35(7):715-8.

PMID:2376858
Abstract

The construction of a family pedigree consumes an average of 15-20 minutes during a typical preamniocentesis counseling session. The records of 1,131 patients were reviewed to determine whether development of a pedigree before amniocentesis reveals conditions other than those for which the patient was referred often enough to justify the time spent in the process. The patients were referred for a variety of reasons, with increased maternal age the most common. A positive finding in the pedigree was any condition other than that for which the patient was referred and that required additional comments or testing. It was found that 72.15% of the pedigrees contained at least one other positive finding. Thus, construction of a pedigree before genetic amniocentesis is a valuable objective since it reveals, in the majority of cases, additional factors that may influence the current or future pregnancies or may provide information for other family members.

摘要

在典型的羊膜穿刺术前咨询过程中,构建一份家族谱系平均耗时15 - 20分钟。对1131名患者的记录进行了审查,以确定在羊膜穿刺术前构建家族谱系是否能揭示出患者转诊原因以外的其他情况,这些情况出现的频率足以证明构建过程中所花费的时间是合理的。患者转诊的原因多种多样,其中母亲年龄增加是最常见的。家族谱系中的阳性发现是指除患者转诊原因之外的任何情况,且该情况需要额外的注释或检测。结果发现,72.15%的家族谱系至少包含一项其他阳性发现。因此,在基因羊膜穿刺术前构建家族谱系是一个有价值的目标,因为在大多数情况下,它能揭示可能影响当前或未来妊娠的其他因素,或者能为其他家庭成员提供信息。

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