Prenatal diagnosis of Thrombocytopenia and absent radius syndrome (TAR): A case report and review of the literature

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Ivan Aivasovsky
Lorena Rincones
Sergio Vergara
Andrés Parra
Andreina Zannin
Ameinada Ferrer
Ana Isabel Bracho
Isabel Fernandez
Luis Gustavo Celis

Abstract

Background: Thrombocytopenia syndrome with aplasia of the radius (TAR) is a congenital disorder with an autosomal recessive inheritance pattern of unknown prevalence, affecting less than 1 case per 100,000 live births with no difference between sexes. The absence of a bilateral radius, the presence of thumbs, and thrombocytopenia characterize it. In addition, it can be associated with various craniofacial and lower extremity anomalies, as well as cardiac, urogenital, and gastrointestinal pathologies. Case report: Primiparous patient, who underwent an in-utero diagnosis at week 19 of gestation with suspicion of TAR syndrome due to ultrasound findings (bilateral absence of radii), was referred for genetic evaluation, and it was decided to perform cordocentesis at week 25 showing thrombocytopenia and anemia. Due to the high risk of fetoplacental complications, in-utero management is performed by transfusion of blood products and strict prenatal controls. The pregnancy is carried to term, and a cesarean section is performed at week 38 without complications during neonatal adaptation. Conclusions: ART syndrome is associated with a high mortality risk during the neonatal period and the first year of life. An early prenatal diagnosis is essential for timely treatment and for improving the newborn's and its parents' hope and quality of life.

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How to Cite
Aivasovsky Trotta, I. C., Rincones Rojas, L. V., Vergara Cardenas, V., Parra Charris, A., Zannin Ferrero, A., Ferrer Marcano, A. C., … Celis Regalado, L. G. (2023). Prenatal diagnosis of Thrombocytopenia and absent radius syndrome (TAR): A case report and review of the literature. Pediatría, 55(Suplemento 2), 20–26. https://doi.org/10.14295/rp.v55iSuplemento2.219
Section
Case report

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