Antenatal diagnosis of homozygous alpha thalassemia - A case report

Objective: Diagnosis of the alpha-thalassemia-2 trait. Method: Homozygous a lpha-thalassemia was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobil e fetus, and cardiomegaly were the principal echographic signs. Cordocentes is showed fetal anemia, and electrophoresis of fetal hemoglobin revealed th e presence of Bart's hemoglobin. Result: As there is no known effective tre atment, termination of pregnancy was proposed to the patient. Conclusions: An alpha-thalassemia-2 trait is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would perm it a reduction of invasive examinations in couples at risk.