Prenatal diagnosis of Thrombocytopenia and absent radius syndrome (TAR): A case report and review of the literature
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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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References
Martinez-Frías M., Bermejo Sánchez E, García García A, Fernández J. P, Cucalón Manzanos F, Aguilar M. C. Estudio epidemiológico del síndrome de trombocitopenia con aplasia de radio (TAR) en España. An Esp Pediatr. 1998;49(6):619-623.
Diep RT, Arcasoy MO. Pregnancy in patients with thrombocytopenia and absent radii (TAR). Ann Hematol. 2017;96(9):1589-1590. DOI: https://doi.org/10.1007/s00277-017-3053-3
Toriello H V. Thrombocytopenia Absent Radius Syndrome: TAR Syndrome. 2016.
Boranić M, Raić F, Puretić S, Zergollern L. Skin disorder in an infant with congenital thrombocytopenia and aplasia of the radial bones. Acta Med Iugosl. 1979;33(1):67-74.
Luthy DA, Mack L, Hirsch J, Cheng E. Prenatal ultrasound diagnosis of thrombocytopenia with absent radii. Am J Obstet Gynecol. 1981;141(3):350-1. DOI: https://doi.org/10.1016/S0002-9378(16)32646-1
Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, et al. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: A case report. BMC Res Notes. 2013;6(1):0-5.
Tassano E, Gimelli S, Divizia MT, Lerone M, Vaccari C, Puliti A, et al. Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: A new familial case. Mol Cytogenet. 2015;8(1):1-7. DOI: https://doi.org/10.1186/s13039-015-0188-6
Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H. Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. Br J Haematol. 2017;179(4):606-17. DOI: https://doi.org/10.1111/bjh.14913
Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, et al. Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report. Mol Med Rep. 2014;9(1):163-5. DOI: https://doi.org/10.3892/mmr.2013.1788
Klopocki E, Schulze H, Strauß G, Ott CE, Hall J, Trotier F, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007;80(2):232-40. DOI: https://doi.org/10.1086/510919
Al-Qattan MM. The pathogenesis of radial ray deficiency in thrombocytopenia-absent radius (TAR) syndrome. J Coll Physicians Surg Pakistan. 2016;26(11):912-6.
Pavlenishvili I V., Mchedleshvili N V., Gotua TA. Thrombocytopenia-absent radius - TAR-syndrome. Georgian Med News. 2011;(193):86-8.
Forestier F, Daffos F, Catherine N, Renard M, Andreux JP. Developmental hematopoiesis in normal human fetal blood. Blood. 1991;77(11):2360-2363. DOI: https://doi.org/10.1182/blood.V77.11.2360.bloodjournal77112360
Bottillo I, Castori M, Bernardo C De, Fabbri R, Grammatico B, Preziosi N, et al. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 2013;6:376 DOI: https://doi.org/10.1186/1756-0500-6-376
Baken L, Groenenberg IAL, Hoogeboom AJM, Koning AHJ, Exalto N. First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality. Clin Dysmorphol. 2014;23(2):71-3. DOI: https://doi.org/10.1097/MCD.0000000000000029
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012;44(4):435-9. DOI: https://doi.org/10.1038/ng.1083
Geddis AE. Congenital Amegakaryocytic Thrombocytopenia and Thrombocytopenia with Absent Radii. Hematol Oncol Clin North Am. 2009;23(2):321-31. DOI: https://doi.org/10.1016/j.hoc.2009.01.012
De Ybarrondo L, Barratt MS. Thrombocytopenia Absent Radius Syndrome Pediatr Rev. 2011;32(9):399-400 19. DOI: https://doi.org/10.1542/pir.32.9.399
Castriota-Scanderbeg A, Dallapiccola B. Thrombocytopenia-Absent Radius Syndrome. En: Springer. Berlin, Heidelberg: Springer US; 2005. p. 910-1.
Filkins K, Russo J, Bilinki I, Diamond N, Searle B. Prenatal diagnosis of thrombocitopenia absent radius syndrome using ultrasound and fetoscopy. Prenat Diagn. 1984;4(1):139-42. DOI: https://doi.org/10.1002/pd.1970040208
Boute O, Depret-Mosser S, Vinatier D, Manouvrier S, De Lassale M, Farriaux JP, et al. Prenatal diagnosis of thrombocytopenia-absent radius syndrome. Fetal Diagn Ther. 1996;11(3):224-30. DOI: https://doi.org/10.1159/000264307
Azemi M, Kolgeci S, Grajçevci-Uka V, Berisha M, Ismaili-Jaha V, Spahiu L. CASE REPORT Thrombocytopenia Absent Radius (TAR) Syndrome Thrombocytopenia Absent Radius (TAR) Syndrome. Med Arh. 2011;65(3):178-81 DOI: https://doi.org/10.5455/medarh.2011.65.178-181
Shelton SD, Paulyson K, Kay HH. Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery. Prenat Diagn. 1999;19(1):54-7. DOI: https://doi.org/10.1002/(SICI)1097-0223(199901)19:1<54::AID-PD452>3.0.CO;2-8
Tongsong T, Sirichotiyakul S, Chanprapaph P. Prenatal diagnosis of thrombocytopenia-absent-radius (TAR) syndrome. Ultrasound Obstet Gynecol. 2000;15(3):256-8 DOI: https://doi.org/10.1046/j.1469-0705.2000.00047.x
Weinblatt M, Petrikovsky B, Bialer M, Kochen J, Harper R. Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome. Prenat Diagn. 1994;14(9):892-6. DOI: https://doi.org/10.1002/pd.1970140922
Hedberg VA, Lipton JM. Thrombocytopenia with absent radii: A review of 100 cases. J Pediatr Hematol Oncol. 1988; 10(1):51-64 DOI: https://doi.org/10.1097/00043426-198821000-00010
Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, Berkum P van, Mckusick V. Thrombocytopenia with absent radius. Archives of disease in childhood. 1969; 48(6):411-39. DOI: https://doi.org/10.1097/00005792-196948060-00001
Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U. Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature. Hematol Oncol Stem Cell Ther. 2018;11(4):245-7. DOI: https://doi.org/10.1016/j.hemonc.2017.02.001
Bradshaw A, Donnelly LF, Foreman JW. Thrombocytopenia and absent radii (TAR) syndrome associated with horseshoe kidney. Pediatr Nephrol. 2000;14(1):29-31 DOI: https://doi.org/10.1007/s004670050007
Akil I, Gözmen S, Yilmaz Ö, Taneli C. Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome. Turk J Pediatr. 2008;50(5):509-11.
Williams J, Kim BY, Warrier R. An Infant With Abnormal Upper Extremity Findings: A Case Report. Clin Pediatr (Phila). 2018;57(8):997-8. DOI: https://doi.org/10.1177/0009922818771501