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[羊膜穿刺术中性染色体异常]

[Anomalies of sex chromosomes in amniocentesis].

作者信息

Paoloni-Giacobino Ariane, Dahoun Sophie, Hamany Hanane, Lespinasse James

机构信息

Division de Génétique Médicale Hôpitoux Universitaires de Genève.

出版信息

Rev Med Suisse Romande. 2004 Mar;124(3):167-9.

Abstract

When sex chromosome abnormalities are detected by amniocentesis, the concerned couples have to face a difficult decision with regards to the pregnancy issue. Indeed the prognosis of these chromosomal abnormalities is favorable, developmental defects being generally not considered as severe. We have analysed 113 cases of sex chromosome abnormalities detected by amniocentesis and compared the pregnancy issues. The cases were obtained from the Centre Hospitalier de Chambéry and the Hôpitaux Universitaires de Genève. When such abnormalities are detected, the couple's decision can be variable, depending on many factors, as the country of origin. The goal of genetic counseling is to provide as many informations as possible to the concerned couples, in order to let them make an informed decision.

摘要

当通过羊膜穿刺术检测到性染色体异常时,相关夫妇必须就妊娠问题面临艰难的决定。事实上,这些染色体异常的预后是良好的,发育缺陷通常不被认为很严重。我们分析了113例通过羊膜穿刺术检测到的性染色体异常病例,并比较了妊娠情况。这些病例来自尚贝里中心医院和日内瓦大学医院。当检测到此类异常时,夫妇的决定可能会有所不同,这取决于许多因素,比如原籍国。遗传咨询的目的是向相关夫妇提供尽可能多的信息,以便让他们做出明智的决定。

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