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 micro L of plasma from pregnant women whose husbands carried Hb E. The beta(E)-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 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 beta(E)-globin gene should prove useful in a prevention and control program of Hb E/beta-thalassemia in countries where the beta(E)-globin gene is prevalent.