Prenatal diagnosis of hemoglobinopathies: development of methods for study of fetal red cells and fibroblasts.
Prenatal testing for hemoglobinopathies has been available since 1974, using fetal blood samples, and since 1978, using fetal DNA. Close to 2000 cases were studied by analysis of fetal globin synthesis, and approximately 100 by restriction enzyme techniques. More than 20 centers worldwide are performing these tests. The safety and reliability of these tests are now clear, and they have a major role in the counselling of families where there is a risk of sickle cell disease or thalassemia.
D001800:Blood Specimen Collection / Q000379:methods; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes / Q000494:pharmacology; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005312:Fetal Blood / Q000378:metabolism*; D005347:Fibroblasts / Q000032:analysis; D005914:Globins / Q000096:biosynthesis*; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes