Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome

Abstract

A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.

Prenatal Diagnosis of Thrombocytopenia-Absent Radius Syndrome

“…He can confirm, in utero, the diagnosis of TAR syndrome. In utero diagnosis of less severe cases is possible as shown by the two observations of Labrune et al [14] and Weinblatt et al [15]. All but two pregnancies were terminated.…”

“…The 2 cases rejected by Bialer [16] and Weinblatt et al [15] are excluded from the discussion. Four cases diagnosed in utero revealed the disease in the family [3,5,14,15]. It concerns the most recent diagnosis, all discovered during sonographic examination.…”

“…Nine prenatal diagnoses of TAR syndrome have been previously reported [3,5,[11][12][13][14][15] (table 1). The 2 cases rejected by Bialer [16] and Weinblatt et al [15] are excluded from the discussion.…”

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

“…Prenatal diagnosis of an index case has been reported only in four fetuses (Donnenfeld et al, 1990;Delooz et al, 1992;Labrune et al, 1993;Weinblatt et al, 1994). All index cases were diagnosed by ultrasound and/or cordocentesis.…”

“…Fetuses with TAR syndrome have been diagnosed prenatally by finding thrombocytopenia at the time of cordocentesis (Daffos et al, 1988;Donnenfeld et al, 1990;Labrune et al, 1993;Weinblatt et al, 1994;Boute et al, 1996). Individuals with Fanconi's anaemia may have thrombocytopenia, but this is rarely present before 17 months of age and individuals usually demonstrate pancytopenia (Hedberg and Lipton, 1988).…”