New England Journal of Medicine · 1982 · 175 citations · 24 references
MedicineGeneticsMolecular GeneticsMedical GeneticsMolecular DiagnosticsPrenatal DiagnosisAnemiaGenetic DisordersHematologic DisordersPrenatal Diagnosis Of HemoglobinopathiesPrenatal Genetic DiagnosisSickle Cell DiseaseHemoglobinopathy ScreeningMolecular Diagnosis Of HemoglobinopathiesMutationPrenatal Molecular DiagnosisSickle Cell AnemiaSickle Cell Disease Prenatal Diagnosis
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 . . .
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