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Prenatal Diagnosis of an Uncommon Syndrome: Thrombocytopenia Absent Radius

The prenatal diagnosis of the thrombocytopenia absent radius (TAR) syndrome using ultrasound and cordocentesis at the 34th week of gestation is established. Two basic components of the syndrome, bilateral absence of radius and thrombocytopenia at a level 12.000/mm3 were detected. No complication during the cordocentesis and delivery occurred due to thrombocytopenia. This case report, to our knowledge, is one of a limited number of cases emphasized on prenatal diagnosis of TAR syndrome in the world.