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[遗传咨询与镰状细胞贫血]

[Genetic counseling and sickle cell anemia].

作者信息

Goldcher A

机构信息

Centre de la drépanocytose, CHU Henri-Mondor, Créteil.

出版信息

Rev Prat. 1992 Oct 1;42(15):1896-9.

PMID:1485083
Abstract

In sickle cell anaemia genetic counselling benefits from the easy diagnosis and, as early as the foetal stage, from the heterozygosity (AS) and the major syndromes. Its main objective is to inform as many as possible of the subjects concerned and in particular couples with genetic risk. Counselling gives them all the elements they require to decide freely about their offsprings. It is part of the management of sickle cell anaemia patients and is often associated with the neonatal diagnosis. The ever increasing number of justified requests for a prenatal diagnosis and the early time of these requests during pregnancy show that the information has really been transmitted. Actions remain to be developed in certain medical groups and in the populations at risk. A sickle cell anaemia centre is necessary for a better rationalization of genetic counselling.

摘要

在镰状细胞贫血中,遗传咨询得益于易于诊断,并且早在胎儿期就能诊断出杂合子(AS)和主要综合征。其主要目标是让尽可能多的相关受试者,特别是有遗传风险的夫妇了解情况。咨询为他们提供做出关于后代的自由决定所需的所有信息。它是镰状细胞贫血患者管理的一部分,并且常常与新生儿诊断相关联。产前诊断合理请求的数量不断增加以及这些请求在孕期提出的时间较早,表明信息确实得到了传播。在某些医疗群体和高危人群中仍有待开展相关行动。为了更好地使遗传咨询合理化,有必要设立一个镰状细胞贫血中心。

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