Successful pregnancy following oocyte donation in a patient with Diamond-Blackfan syndrome and premature ovarian failure

Abstract

Diamond-Blackfan anaemia (DBA) is a rare congenital condition characterized by profound anaemia associated with an absence of red cell precursors on bone marrow examination. This report represents the first case of pregnancy following egg donation in a patient with DBA and premature ovarian failure. The patient was a 24 year old woman who had been diagnosed with DBA when aged 6 months. Shortly after menarche, the patient became amenorrhoeic and was diagnosed as suffering from premature ovarian failure. She was entered onto an assisted conception programme and conceived after one cycle of egg donation. The pregnancy was characterized by a gradual decline in haemoglobin concentration, reaching a low of 8.1 g/dl, necessitating a single blood transfusion at 29 weeks of gestation. The patient suffered preterm rupture of the membranes at 29 weeks gestation and was delivered by emergency Caesarean section at 30 weeks of gestation because of chorioamnionitis and breech presentation. Comparing this case with other reports of pregnancy in patients with DBA, our patient suffered a less dramatic fall in haemoglobin concentration and required only a single blood transfusion. It is suggested that because the pregnancy arose from donated genetic material, this may have conferred some protective effect.