Antenatal Diagnosis of Homozygous alpha thalassemia : A case report

Objective: Diagnosis of the α-thalassemia-2 trait. Method: Homozygous α-thalassemia was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. Cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. Result: As there is no known effective treatment, termination of pregnancy was proposed to the patient. Conclusions: An α-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 permit a reduction of invasive examinations in couples at risk.