PRENATAL EVALUATION AND IN-UTERO PLATELET TRANSFUSION FOR THROMBOCYTOPENIA ABSENT RADII SYNDROME

A fetus with absent radii in both forearms was discovered on routine u ltrasound examination performed at 18 weeks of pregnancy. No other sig nificant abnormalities were found, and no signs of haemorrhage were de tected. Serial ultrasound examinations revealed no evidence of fetal i nternal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocen tesis under ultrasound guidance confirmed the diagnosis of thrombocyto penia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was follo wed by an uncomplicated delivery. No bleeding was encountered during t he remainder of the baby's neonatal course. We conclude that TAR syndr ome can be readily identified prenatally on sonogram, and if severe th rombocytopenia is confirmed by cordocentesis, platelets should be tran sfused to diminish the risk of serious internal bleeding during and im mediately after delivery.