Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery

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. Copyright © 1999 John Wiley & Sons, Ltd.

[1]  R. Berkowitz,et al.  Fetal alloimmune thrombocytopenia. , 1997, The New England journal of medicine.

[2]  T. Kelly,et al.  Maternal characteristics and risk of severe neonatal thrombocytopenia and intracranial hemorrhage in pregnancies complicated by autoimmune thrombocytopenia. , 1997, American journal of obstetrics and gynecology.

[3]  D. Vinatier,et al.  Prenatal diagnosis of thrombocytopenia-absent radius syndrome. , 1996, Fetal diagnosis and therapy.

[4]  M. Bialer,et al.  Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome , 1994, Prenatal diagnosis.

[5]  M. Bialer.  Prenatal diagnosis of thrombocytopenia in TAR syndrome , 1994, Prenatal Diagnosis.

[6]  U. Francke,et al.  Roberts syndrome: a review of 100 cases and a new rating system for severity. , 1993, American journal of medical genetics.

[7]  R. Frydman,et al.  Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome , 1993, Prenatal diagnosis.

[8]  D. Hickok,et al.  Percutaneous umbilical blood sampling: results from a multicenter collaborative registry. The Western Collaborative Perinatal Group. , 1992, American journal of obstetrics and gynecology.

[9]  J. Fryns,et al.  Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome? , 1992, Genetic counseling.

[10]  E. Lavi,et al.  Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis , 1990, Prenatal diagnosis.

[11]  R. Nicol,et al.  Clinical manifestations of the thrombocytopenia and absent radii (TAR) syndrome. , 1989, Australian and New Zealand journal of medicine.

[12]  C. Kaplan,et al.  Prenatal diagnosis and management of bleeding disorders with fetal blood sampling. , 1988, American journal of obstetrics and gynecology.

[13]  J. Lipton,et al.  Thrombocytopenia with absent radii. A review of 100 cases. , 1988, The American journal of pediatric hematology/oncology.

[14]  J. Hall.  Thrombocytopenia and absent radius (TAR) syndrome. , 1987, Journal of medical genetics.

[15]  A. Auerbach,et al.  Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. , 1985, Pediatrics.

[16]  K. Filkins,et al.  Prenatal diagnosis of thrombocytopenia absent radius syndrome using ultrasound and fetoscopy , 1984, Prenatal diagnosis.

[17]  D. Luthy,et al.  Prenatal ultrasound diagnosis of thrombocytopenia with absent radii. , 1981, American journal of obstetrics and gynecology.

[18]  D. Luthy,et al.  Prenatal diagnosis of thrombocytopenia with absent radii , 1979, Clinical genetics.

[19]  M. Sasaki,et al.  A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. , 1973, Cancer research.

[20]  V. McKusick,et al.  THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) , 1969, Medicine.