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血红蛋白病的产前诊断。

Prenatal diagnosis of hemoglobinopathies.

作者信息

Leonard C O, Kazazian H H

出版信息

Pediatr Clin North Am. 1978 Aug;25(3):631-42. doi: 10.1016/s0031-3955(16)33608-2.

Abstract

Techniques are currently available at a few specialized centers for the antenatal detection of hemoglobinopathies such as beta thalassemia and sickle cell anemia. The risks are not yet clearly defined, but it seems reasonable to suggest that about 90 per cent of families may obtain useful information about the genotype of their fetus. Obtaining fetal blood as well as analyzing the sample requires considerable experience and skill. These factors continue to limit the availability of this procedure.

摘要

目前,一些专业中心已有技术可用于产前检测血红蛋白病,如β地中海贫血和镰状细胞贫血。风险尚未明确界定,但似乎有理由认为,约90%的家庭可能会获得有关其胎儿基因型的有用信息。获取胎儿血液以及分析样本需要相当多的经验和技能。这些因素继续限制了该程序的可用性。

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