2,215
Views
0
CrossRef citations to date
0
Altmetric
Original Article

Isolated aberrant right subclavian artery: an underlying clue for genetic anomalies

, , , , , , & show all
Article: 2183762 | Received 11 May 2022, Accepted 16 Feb 2023, Published online: 01 Mar 2023

References

  • Scala C, Leone Roberti Maggiore U, Candiani M, et al. Aberrant right subclavian artery in fetuses with down syndrome: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46(3):266–276.
  • Borenstein M, Minekawa R, Zidere V, et al. Aberrant right subclavian artery at 16 to 23 + 6 weeks of gestation: a marker for chromosomal abnormality. Ultrasound Obstet Gynecol. 2010;36(5):548–552.
  • De León-Luis J, Gámez F, Bravo C, et al. Second-trimester fetal aberrant right subclavian artery: original study, systematic review and meta-analysis of performance in detection of down syndrome. Ultrasound Obstet Gynecol. 2014;44(2):147–153.
  • Polguj M, Chrzanowski Ł, Kasprzak JD, et al. The aberrant right subclavian artery (arteria lusoria): the morphological and clinical aspects of one of the most important variations–a systematic study of 141 reports. ScientificWorldJournal. 2014;2014:292734.
  • Krupiński M, Irzyk M, Moczulski Z, et al. CT evaluation of aberrant right subclavian artery: anatomy and clinical implications. Cardiol Young. 2019;29(2):128–132.
  • Paladini D, Sglavo G, Pastore G, et al. Aberrant right subclavian artery: incidence and correlation with other markers of down syndrome in second-trimester fetuses. Ultrasound Obstet Gynecol. 2012;39(2):191–195.
  • Esmer AC, Gul A, Nehir A, et al. Detection rate of trisomy 21 in fetuses with isolated and non-isolated aberrant right subclavian artery. Fetal Diagn Ther. 2013;34(3):140–145.
  • Pico H, Mancini J, Lafouge A, et al. Prenatal associated features in fetuses diagnosed with an aberrant right subclavian artery. Fetal Diagn Ther. 2016;40(3):187–194.
  • Maya I, Kahana S, Yeshaya J, et al. Chromosomal microarray analysis in fetuses with aberrant right subclavian artery. Ultrasound Obstet Gynecol. 2017;49(3):337–341.
  • Rembouskos G, Passamonti U, De Robertis V, et al. Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography. Prenat Diagn. 2012;32(10):968–975.
  • Willruth AM, Dwinger N, Ritgen J, et al. Fetal aberrant right subclavian artery (ARSA) - a potential new soft marker in the genetic scan? Ultraschall in Med. 2011;33(07):E114–E118.
  • De León-Luis J, Bravo C, Gámez F, et al. Coronal view as a complementary ultrasound approach for prenatal diagnosis of aberrant right subclavian artery. Ultrasound Obstet Gynecol. 2012;40(3):370–371.
  • Behram M, Süzen Çaypınar S, Oğlak SC, et al. Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma. Turk J Obstet Gynecol. 2021;18(2):103–108.
  • McElhinney DB, Clark BJ, 3rd, Weinberg PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol. 2001;37(8):2114–2119.
  • Rauch R, Rauch A, Koch A, et al. Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr. 2004;163:642–645.
  • Ranzini AC, Hyman F, Jamaer E, et al. Correlation between fetal and neonatal abnormalities and abnormal genetic screening or testing. J Ultrasound Med. 2017;36(4):785–790.
  • Fehmi Yazıcıoğlu H, Sevket O, Akın H, et al. Aberrant right subclavian artery in down syndrome fetuses. Prenat Diagn. 2013;33(3):209–213.
  • Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41(3):247–261.
  • Gul A, Corbacioglu A, Bakirci IT, et al. Associated anomalies and outcome of fetal aberrant right subclavian artery. Arch Gynecol Obstet. 2012;285(1):27–30.
  • Gursoy Erzincan S, Karamustafaoglu Balci B, Tokgoz C, et al. Incidence of an aberrant right subclavian artery on second-trimester sonography in an unselected population. J Ultrasound Med. 2017;36(5):1015–1019.
  • Bearelly P, Oates R. Recent advances in managing and understanding Klinefelter syndrome. F1000Res. 2019;8:112.
  • Peyvandi S, Lupo PJ, Garbarini J, et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol. 2013;34(7):1687–1694.
  • Anilkumar A, Kappanayil M, Thampi MV, et al. Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children. Acta Paediatr. 2011;100(9):e97–e100.
  • Chow EW, Ho A, Wei C, et al. Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus. Am J Psychiatry. 2011;168(5):522–529.
  • Philip N, Bassett A. Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet. 2011;41(3):403–412.
  • Shprintzen RJ. Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev. 2000;6(2):142–147.
  • Linden SC, Watson CJ, Smith J, et al. The psychiatric phenotypes of 1q21 distal deletion and duplication. Transl Psychiatry. 2021;11(1):105.
  • de la Torre-Ubieta L, Won H, Stein JL, et al. Advancing the understanding of autism disease mechanisms through genetics. Nat Med. 2016;22(4):345–361.
  • Leppa VM, Kravitz SN, Martin CL, et al. Rare inherited and de novo cnvs reveal complex contributions to asd risk in multiplex families. Am J Hum Genet. 2016;99(3):540–554.
  • Weiss LA, Shen Y, Korn JM, Autism Consortium, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667–675.