Improved Detection of the Sickle Mutation by DNA Analysis

Abstract

DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1 , 2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.3 , 4 Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.5 However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than . . .