Prenatal detection of fetal hemoglobin E gene from maternal plasma

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 beta(E)-globin gene in maternal plasma. The analysis was performed during 8 to 18 weeks of gestation using DNA extracted from 200 muL of plasma from pregnant women whose husbands carried Hb E. The beta(E)-globin mutation in maternal plasiria 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 beta(E)-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 E beta(E)-globin gene should prove useful in a prevention and control progrant of Hb E/beta-thalassemia in countries where the beta(E)-globin gene is prevalent. Copyright (C) 2003 John Wiley Sons. Ltd.