Diamond-Blackfan anemia as an unusual cause of nonimmune hydrops fetalis: a case report.

BACKGROUND

Diamond-Blackfan anemia is an unusual cause of childhood anemia that results from an absence of bone marrow red cell precursors. To our knowledge, the in utero development of Diamond-Blackfan anemia has been recognized and reported in only two prior instances.

CASE: We report the case of a patient who presented with hydrops fetalis during the second trimester of pregnancy. After prenatal evaluation revealed anemia of undetermined etiology, the fetus received intrauterine transfusion therapy. Despite successful treatment of the anemia and hydrops fetalis, in utero renal failure ensued. The infant died neonatally. Postmortem examination of a bone marrow aspirate indicated Diamond-Blackfan anemia as the cause of the hydrops fetalis.

CONCLUSION

Diamond-Blackfan anemia may be an unrecognized cause of hydrops fetalis. The suboptimal outcome in this case underscores the larger issue of apparently successful treatment of in utero anemia with little or no impact on postnatal survival.