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婚前基因调查:遗传咨询的效果

Premarital genetic investigations: effect of genetic counselling.

作者信息

Abdel-Meguid N, Zaki M S, Hammad S A

机构信息

Department of Human Genetics, National Research Centre, Cairo, Egypt.

出版信息

East Mediterr Health J. 2000 Jul;6(4):652-60.

Abstract

Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage.

摘要

在两年时间里,86对夫妇(172例)被转介到国家研究中心的遗传学诊所进行婚前遗传咨询。约73.25%的人有不同遗传疾病的家族史。近亲结婚的比例为86.04%。基因检测发现26例(15.11%)存在染色体异常;23例(13.37%)有其他异常结果。经过遗传咨询后,对30对夫妇进行了孕后随访;其中10对夫妇需要进行羊水穿刺,结果显示2名母亲的胎儿异常。其他夫妇的后代正常。我们得出结论,婚前遗传咨询在检测遗传疾病方面非常有用,是改变对婚前检测的态度和减少近亲结婚的重要一步。

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