Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome

The prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome usi ng ultrasound and cordocentesis in the 16th week of gestation is establishe d. The sonographic findings detected in this case included bilateral absenc e of the radius and club hands with normal thumbs and metacarpals. Because of a high index of suspicion for the syndrome, cordocentesis for fetal bloo d analysis was performed. Thrombocytopenia, with a platelet count of 14 000 /mm(3), was identified. The pregnancy was electively terminated and subsequ ent findings confirmed the sonographic diagnosis. This report, to our knowl edge, is one of a very limited number of cases published in the literature, in which the prenatal diagnosis of TAR syndrome tons made.