Successful application of prenatal diagnosis in a pregnancy at risk for homozygous beta-thalassemia.
A Sicilian couple whose first child had homozygous beta-+-thalassemia requiring monthly transfusion requested prenatal diagnosis during the second pregnancy. Fully informed consent was obtained. The placenta was localized by ultra-sound at the 20th week of gestation, and was aspirated with a 20-gauge needle. Samples containing fetal red cells were obtained, and studies of globinchain synthesis showed a normal beta/gamma synthesis ratio for this gestational age. The conclusion that the child was not affected by beta-thalassemia was confirmed when an infant not affected with homozygous of heterozygous beta-thalassemia was born at term. Although more experience with this approach is necessary, this study demonstrates that prenatal diagnosis or exclusion of beta-thalassemia and sickle-cell anemia is feasible.
D001772:Blood Cell Count; D005260:Female; D005319:Fetal Hemoglobin / Q000096:biosynthesis; D005333:Fetus / Q000378:metabolism; D005865:Gestational Age; D005914:Globins / Q000032:analysis; D006454:Hemoglobins / Q000096:biosynthesis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D011677:Punctures / Q000379:methods; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D014463:Ultrasonography
D006454:Hemoglobins; D005914:Globins; D005319:Fetal Hemoglobin