Successful Application of Prenatal Diagnosis in a Pregnancy at Risk for Homozygous β-Thalassemia

Abstract

A Sicilian couple whose first child had homozygous β⁺-thalassemia requiring monthly transfusion requested prenatal diagnosis during the second pregnancy. Fully informed consent was obtained. The placenta was localized by ultrasound at the 20th week of gestation, and was aspirated with a 20-gauge needle. Samples containing fetal red cells were obtained, and studies of globin-chain synthesis showed a normal β/γ synthesis ratio for this gestational age. The conclusion that the child was not affected by β-thalassemia was confirmed when an infant not affected with homozygous or heterozygous β-thalassemia was born at term. Although more experience with this approach is necessary, this study demonstrates that prenatal diagnosis or exclusion of β-thalassemia and sickle-cell anemia is feasible. (N Engl J Med 292:1096–1099, 1975)