PRENATAL-DIAGNOSIS OF SICKLE-CELL-ANEMIA AND THALASSEMIA BY ANALYSIS OF FETAL CELLS IN MATERNAL BLOOD

Currently, amniocentesis, chorionic villus sampling (CVS) and fetal bl ood sampling are used to obtain fetal cells for genetic diagnosis. The se invasive procedures pose a small but not negligible risk for the fe tus. Efforts have been directed towards the enrichment of fetal cells, such as erythroblasts, from maternal blood and progress has been made in the diagnosis of some chromosomal disorders and in sex determinati ons. We now report the detection of point mutations in single gene dis orders using this method of prenatal diagnosis by enriching fetal cell s from maternal blood by magnetic cell sorting followed by isolation o f pure fetal cells by microdissection. In two pregnancies at risk for sickle cell anaemia and beta-thalassaemia, we successfully identified the fetal genotypes. Thus, prenatal diagnosis of single gene disorders by recovering fetal cells from maternal circulation appears to be a f easible approach.