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Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis |
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| Authors: | Dr Alan E Donnenfeld Barbara Wiseman Ehud Lavi Stuart Weiner |
| Institution: | 1. Department of Pathology, Pennsylvania Hospital, and Department of Obstetrics and Gynecology†, Medical College of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.;2. Department of Obstetrics and Gynecology, Medical College of Pennsylvania, Philadelphia, Pennsylvania, U.S.A;3. Maternal-Fetal Medicine, Medical College of Pennsylvania, Philadelphia, Pennsylvania, U.S.A. |
| Abstract: | The prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome, utilizing ultrasound and cordocentesis, is described. To our knowledge, this represents the first prenatal diagnosis of this condition in an index case. The diagnostic evaluation of a fetus with upper extremity limb reduction defects is discussed. |
| Keywords: | Thrombocytopenia absent radius syndrome Prenatal diagnosis Cordocentesis Phocomelia |