Limb reduction defects as the sonographic manifestation of hemoglobin Bart's disease at 10 weeks of gestation

Abstract

Fetuses affected by hemoglobin Bart's disease are anemic and hypoxic from the first trimester. They develop cardiac and placental enlargement and have a high incidence of limb reduction defects and hypospadias. We present a fetus at risk for hemoglobin Bart's disease with multiple limb reduction defects detected at 10 weeks of gestation, which allowed a strong presumptive diagnosis of hemoglobin Bart's disease to be made at the time of ultrasound examination. The limb defects were verified by direct visualization via needle embryoscopy. The present case suggests that sonographic identification of limb reduction defects may be a specific marker of hemoglobin Bart's disease at 10 weeks.