Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia

Thrombocytopenia-absent radius (TAR) syndrome affects 0.5-1/100,000 live births. We describe, to the best of our knowledge, the sixth patient with TAR to experience a successful pregnancy and the first such case complicated by severe pre-eclampsia. The diagnosis of pre-eclampsia was made at 33 weeks by blood pressure and proteinuria. A further decline in platelets suggested, but could not reliably confirm, severe pre-eclampsia until she experienced persistently elevated aspartate aminotransferase levels. Repeat cesarean delivery was performed at 33 4/7 weeks' gestation. Obstetrical conditions characterised by thrombocytopenia may present diagnostic challenges and should be considered in the differential diagnosis of thrombocytopenic exacerbations in TAR syndrome.