Bedri SAKCAK, Ramazan DENİZLİ, Nihat FARİSOĞULLARI, Zahid AĞAOĞLU, Atakan TANACAN, Özgür KARA, Dilek SAHİN

Genetic Ethiology, Associated Anomalies in Fetal Aberrant Right Subclavian Artery: A Retrospective Cohort Study in a Tertiary Hospital

Introduction:This study aimed to determine the prevalence of chromosomal anomalies in fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA) and to evaluate its association with other congenital anomalies. Methods: From 1 June 2021 to 1 June 2023, 47 ARSA cases were diagnosed by prenatal ultrasound in our hospital. The fetuses were divided into isolated ARSA group and non-isolated ARSA group. Among the 47 fetuses, 15 were characterized in the isolated group and 32 with combined other ultrasonic abnormalities in the non-isolated group.General information, ultrasound presentation, chromosomal findings, and birth and pregnancy outcomes were reviewed retrospectively. Results: In the non-isolated ARSA group, 17 cases (53,1%, 17/32) were associated with congenital heart defects, and 8 cases (25 %, 8/32) were associated with extracardiac abnormalities. Chromosome karyotype analysis was performed successfully with all 23 samples, and a total of 8 abnormalities (17%, 8/47) were detected, including 7 cases of trisomy 21, and 1 case of trisomy 18. Single-nucleotide polymorphism array was performed in these 5 cases. Microdeletion was detected in four cases, but one of the arrays was reported normal. Using SNP-array and karyotype analysis in fetuses with ARSA, the total chromosomal anomaly detection rate was found 25.5 % (12/47). Conclusion: The most common malformation accompanying ARSA is cardiac abnormality. Isolated ARSA has a low risk of chromosomal abnormalities, so invasive chromosomal testing is not recommended. Non-isolated ARSA has a high incidence of chromosomal abnormalities, so early karyotyping should be recommended.

Keywords:

Aberrant right subclavian artery, congenital anomalies, fetal, genetic ethiology, ultrasound.,

PDF

___

1. Zalel Y, Achiron R, Yagel S, Kivilevitch Z. Fetal aberrant right subclavian artery in normal and Down syndrome fetuses. Ultrasound Obstet Gynecol. 2008;31(1):25-9.
2. Bravo Arribas C, Gámez Alderete F, Pérez R, Ortiz-Quintana L, de León-Luis J. [Diagnosis of isolated fetal aberrant right subclavian artery]. Ginecol Obstet Mex. 2012;80(6):425-9.
3. Polguj M, Chrzanowski Ł, Kasprzak JD, Stefańczyk L, Topol M, Majos A. 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.
4. Krupiński M, Irzyk M, Moczulski Z, Banyś R, Dwojak I, Urbańczyk-Zawadzka M. CT evaluation of aberrant right subclavian artery: anatomy and clinical implications. Cardiol Young. 2019;29(2):128-32.
5. Yates CL, Monaghan KG, Copenheaver D, Retterer K, Scuffins J, Kucera CR, et al. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. Genet Med. 2017;19(10):1171-8.
6. Scala C, Leone Roberti Maggiore U, Candiani M, Venturini PL, Ferrero S, Greco T, et al. Aberrant right subclavian artery in fetuses with Down syndrome: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46(3):266-76.
7. Ranzini AC, Hyman F, Jamaer E, van Mieghem T. Aberrant Right Subclavian Artery:Correlation Between Fetal and Neonatal Abnormalities and Abnormal Genetic Screening or Testing. J Ultrasound Med. 2017;36(4):785-90.
8. Maya I, Kahana S, Yeshaya J, Tenne T, Yacobson S, Agmon-Fishman I, et al. Chromosomal microarray analysis in fetuses with aberrant right subclavian artery. Ultrasound Obstet Gynecol. 2017;49(3):337-41.
9. AIUM practice guideline for the performance of fetal echocardiography. J Ultrasound Med. 2013;32(6):1067-82.
10. AIUM Practice Parameter for the Performance of Detailed Second- and Third-Trimester Diagnostic Obstetric Ultrasound Examinations. J Ultrasound Med. 2019;38(12):3093-100.
11. Verbitsky M, Westland R, Perez A, Kiryluk K,Liu Q, Krithivasan P, et al. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019;51(1):117-27.
12. Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, et al. Prenatal diagnosis of aberrant right subclavian artery in an unselected population. Ultrasonography. 2017;36(3):278-83.
13. Jelin A, Sagaser K, Lawson C, Forster KR, Leppert K, Hertenstein C, et al. Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies. Obstet Gynecol. 2019;133(4):827-8.
14. Ganapathi M, Nahum O, Levy B. Prenatal Diagnosis Using Chromosomal SNP Microarrays. Methods Mol Biol. 2019;1885:187-205.
15. Gul A, Corbacioglu A, Bakirci IT,Ceylan Y. Associated anomalies and outcome of fetal aberrant right subclavian ar-