Prenatal diagnosis of homozygous α thalassaemia by direct DNA analysis of uncultured amniotic fluid cells

Abstract

Prenatal diagnosis of homozygous α thalassaemia was performed in eight successive patients at risk using DNA from uncultured amniotic fluid cells. The presence of α gene was determined by restriction endonuclease mapping and hybridisation with cloned α and β globin probes. This method is reliable and may be performed at 16 weeks of gestation.