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

Abstract

The prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome using ultrasound and cordocentesis in the 16th week of gestation is established. The sonographic findings detected in this case included bilateral absence of the radius and club hands with normal thumbs and metacarpals. Because of a high index of suspicion for the syndrome, cordocentesis for fetal blood analysis was performed. Thrombocytopenia, with a platelet count of 14 000/mm3, was identified. The pregnancy was electively terminated and subsequent findings confirmed the sonographic diagnosis. This report, to our knowledge, is one of a very limited number of cases published in the literature, in which the prenatal diagnosis of TAR syndrome was made.