We present the first case of a pre-natal diagnosis of fetal anaemia due to congenital pyropoikilocytosis treated with intrauterine fetal blood transfusion.
A 31 year old woman of Caucasian origin was referred to the fetal medicine unit at 29 weeks gestation with suspected fetal anaemia. She had 3 previous miscarriages and delivered a term female infant who was severely jaundiced and anaemic at birth, requiring multiple exchange transfusions. That infant was diagnosed with congenital pyropoikilocytosis.
In this pregnancy, a middle cerebral artery Doppler peak systolic velocity (MCA PSV) performed at 26 and 28 weeks gestation suggested mild to moderate fetal anaemia. At 29 weeks, MCA PSV indicated severe fetal anaemia. There were no signs of hydrops fetalis. Fetal blood sampling confirmed fetal anaemia and fetal blood transfusion was performed. Fetal blood film confirmed congenital pyropoikilocytosis. At 31 weeks, a repeat fetal blood transfusion was indicated but was unsuccessful due to transient fetal bradycardia. Delivery was prompted and at 32 weeks, a female infant was delivered by elective caesarean section. The infant was anaemic requiring multiple exchange transfusions. Neonatal recovery was uneventful.
Congenital pyropoikilocytosis is an autosomal recessive rare hemolytic anaemia due to an erythocyte membrane defect. It is more often seen in black populations and has rarely been seen in white European populations. Doppler prediction of fetal anaemia using MCA PSV should be advocated in women whose previous pregnancies show them to be at high risk of recurrent fetal or neonatal hemolytic anaemias due to rare erythrocyte defects.
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