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神经疾病的遗传咨询

Genetic counselling for neurological disorders.

作者信息

Sutherland G R

出版信息

Aust Fam Physician. 1979 Dec;8(12):1265-72.

PMID:161168
Abstract

When parents have a child with any problem, they usually become concerned about the chances of this problem recurring if they have further children, or of appearing in their grandchildren. Similarly, persons with any congenital disorder themselves or family history of such disorder, often worry about their future children. Genetic counselling can in most cases provide reassurance that there is little need for concern. In those instances where the risks are real, they can be put into perspective and often effectively circumvented by procedures such as prenatal diagnosis. Pregnant women of advanced age run increased risks of having children with chromosome disorders; it is of benefit to individual couples and to the community to refer such women for amniocentesis.

摘要

当父母的孩子出现任何问题时,他们通常会担心如果再要孩子,这个问题复发的几率,或者担心会出现在孙辈身上。同样,患有任何先天性疾病的人或有此类疾病家族史的人,常常会担心自己未来的孩子。在大多数情况下,遗传咨询可以让人放心,无需过于担忧。在那些风险确实存在的情况下,可以正确看待这些风险,并且通常可以通过产前诊断等程序有效地规避。高龄孕妇生育染色体疾病患儿的风险增加;将这类孕妇转诊进行羊膜穿刺术,对夫妻双方和社区都有益处。

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