We report on cases of the thrombocytopenia absent radius syndrome (TAR) in a family with the first documented occurrence of parent-to-child transmission. At least three other families have been reported in which TAR has been transmitted across generations. The pattern of transmission in these cases
Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery
โ Scribed by Stuart D. Shelton; Kristin Paulyson; Helen H. Kay
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 134 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
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โฆ Synopsis
A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. Cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR syndrome.
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