AUTOSOMAL DOMINANTLY INHERITED DIAMOND-BLACKFAN ANEMIA RESULTING IN NONIMMUNE HYDROPS

Background: Autosomal dominant inheritance of Diamond-Blackfan syndrom e has been considered an uncommon occurrence. The onset of anemia is c haracteristically within the first year of life, with 10% of cases pre senting at birth. Hydrops fetalis has been reported rarely. Cases: Two women with Diamond-Blackfan anemia had uncomplicated pregnancies with out important exacerbation of their anemia. Each delivered an edematou s infant affected with Diamond-Blackfan anemia, both of whom required immediate transfusions. One infant is currently 7 years old with trans fusion-dependent Diamond-Blackfan anemia. The second infant died 2 day s after birth; autopsy showed severe erythroid hypoplasia with absence of extramedullary hematopoiesis and placental villous edema. Conclusi on: Diamond-Blackfan anemia may result in severe fetal anemia requirin g transfusion. Among women with this disorder, a greater percentage th an previously suspected are at risk for having an infant with substant ial anemia in both the fetal and perinatal periods. Because the penetr ance of the disorder is variable, pregnant women with a history of Dia mond-Blackfan anemia should be considered at risk. (C) 1997 by The Ame rican College of Obstetricians and Gynecologists.