Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene

A 36-year-old woman, who was 27 weeks pregnant, attended our hospital reporting decreased fetal movements for 2 days. On examination, she appeared well; a fetal heart rate tracing showed reduced variability, and on fetal ultrasound, we detected pleural effusion, ascites, and subcutaneous oedema. The middle cerebral artery peak systolic velocity (MCA-PSV) indicated possible fetal anaemia (figure). A Kleihauer-Betke test showed no fetal-maternal haemorrhage. The patient's blood type was O RhD-positive, and investigations found no red cell alloantibodies, thalassaemia, or maternal infections—parvovirus B19-specific IgM and IgG antibody assays were negative. Cordocentesis showed a fetal haemoglobin concentration of 2·1 g/dL (normal 10·7–13·8) and haematocrit 6·9% (normal >30). Taken together, we diagnosed non-immune hydrops fetalis due to severe fetal anaemia. We gave two cycles of intrauterine transfusion, 1 week apart—of irradiated, allogenic type O Rhesus D negative, and cytomegalovirus-antibody negative packed red cells with 85% haematocrit—into the intrahepatic portion of the umbilical vein. Post-transfusion, the fetal haemoglobin concentration was 10·6 g/dL and the haematocrit 30·5%, and the hydrops resolved. The patient was then followed up closely during the pregnancy.