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[β-地中海贫血的产前诊断]

[Prenatal diagnosis of beta-thalassemia].

作者信息

Mazurova O L, Biriukov V B, Matveeva E V, Rasulov E M, Kolesnikova T N, Kuliev A M

出版信息

Akush Ginekol (Mosk). 1991 Jul(7):16-8.

PMID:1835313
Abstract

Mass screening of married couples in the town of Baku has revealed a couple at risk of giving birth to a child with homozygotic beta-thalassemia. Prenatal diagnosis was carried out during week 23 of pregnancy by means of cordocentesis and biochemical analysis of globin chains, in vitro synthesized in fetal blood in the presence of labeled leucin. beta-thalassemia was detected in the fetus, similarly as in the child in this family. Abortion was induced on pregnancy week 25. Prenatal diagnosis is recommended in case of another pregnancy during the first trimester, involving analysis of the chorionic villi DNA.

摘要

对巴库市已婚夫妇进行的大规模筛查发现,有一对夫妇生育纯合子β地中海贫血患儿的风险较高。在妊娠第23周时通过脐带穿刺术以及对在标记亮氨酸存在的情况下于胎儿血液中体外合成的珠蛋白链进行生化分析,进行了产前诊断。在胎儿中检测到了β地中海贫血,与该家庭中的患儿情况相同。在妊娠第25周时实施了人工流产。建议在孕早期再次怀孕时进行产前诊断,包括对绒毛膜绒毛DNA进行分析。

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