Prenatal Diagnosis of Sickle-Cell Anemia and Alpha G-Philadelphia

Abstract

Prenatal diagnosis is now available as a research procedure for families whose children are at risk for hemoglobinopathies. The expressions of the sickle^{1 2 3} and thalassemia genes^{4 , 5} have been detected in abortuses as early as five weeks' gestation. Homozygous sickle-cell disease, thalassemia major and thalassemia trait have also been detected by diagnostic procedures during the midtrimester. Fetal blood samples for these diagnoses were obtained by needle aspiration of the placenta^{6 , 7} or by fetoscopy.^{8 , 9} We report here the prenatal diagnosis of a complex hemoglobinopathy in which the sample was obtained by fetoscopy. The detection of apparent homozygosity for βS (or possibly S/β . . .