Prenatal detection of fetal hemoglobin E gene from maternal plasma
- 24 April 2003
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 23 (5) , 393-396
- https://doi.org/10.1002/pd.607
Abstract
In order to provide a noninvasive prenatal diagnosis of the hemoglobin E (Hb E) related disorder, we have evaluated the possibility of identifying the fetal βE-globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 µL of plasma from pregnant women whose husbands carried Hb E. The βE-globin mutation in maternal plasma was detected by a nested PCR amplification followed by the Mnl I restriction analysis. The result was compared with that of routine analysis of the CVS specimens. Among the five pregnant women examined, the fetal βE-globin gene was identified in maternal plasma in three of them and the result was completely concordant with the conventional CVS analysis. This simple noninvasive prenatal detection of the fetal βE-globin gene should prove useful in a prevention and control program of Hb E/β-thalassemia in countries where the βE-globin gene is prevalent. Copyright © 2003 John Wiley & Sons, Ltd.Keywords
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