遗传性血液病的产前诊断。

Clinics in haematology Pub Date : 1985-10-01
D J Weatherall
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引用次数: 0

摘要

许多常见的血液遗传疾病可以在子宫内通过胎儿血液取样、羊水细胞生化分析或直接通过研究从羊水细胞或绒毛膜活检中获得的DNA来识别。随着基因探针对大多数重要的血液遗传性疾病的发展,胎儿血液取样和羊膜穿刺术将逐渐过渡到绒毛膜活检作为血液疾病产前诊断的主要方法。由于许多这些疾病的携带者状态可以在产前诊所通过仔细的家族史和一些相对简单的血液检查来确定,因此预防许多重要的血液遗传疾病的前景非常有希望。
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Prenatal diagnosis of inherited blood diseases.

Many common genetic disorders of the blood can be identified in utero, either by fetal blood sampling, biochemical analysis of amniotic fluid cells or directly by studying DNA obtained from amniotic fluid cells or chorion biopsy. With the development of gene probes for most of the important genetic disorders of the blood there will be a gradual transition from fetal blood sampling and amniocentesis to chorion biopsy as the major approach to prenatal diagnosis of haematological disorders. Since the carrier states for many of these conditions can be identified at the antenatal clinic by a careful family history and a few relatively simple blood tests the outlook for prevention of many of the important genetic disorders of the blood is extremely promising.

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