Aberrant Right Subclavian Artery—To Test or Not to Test, That Is the Question

Abstract

Objectives This study aimed to determine if isolated fetal aberrant right subclavian artery (ARSA) is associated with an increased risk of chromosomal abnormalities and to see whether or not invasive testing should be considered.

Methods We conducted a retrospective study from January 2017 to December 2021. All prenatally diagnosed cases of ARSA were reviewed and their clinical data were collected. Amniocentesis was advised after genetic counseling in every case of ARSA.

Results One hundred and thirteen patients of ARSA were diagnosed at 21.2 ± 2.4 weeks of gestational age. Eighty-eight fetuses had isolated ARSA. Eighty-three patients underwent amniocentesis. Of those, six had Down syndrome and one had Turner syndrome. Four fetuses with genetic abnormalities had no other ultrasound findings; however, the association of isolated ARSA with chromosomal abnormalities was not statistically significant (p-value = 0.998). Ten patients underwent termination of pregnancy including seven with chromosomal abnormalities and three fetuses with other structural anomalies. The mean age of postnatal follow-up was 2.2 years. Mild respiratory distress was seen in one fetus. No neonatal intensive care unit admissions were present.

Conclusion Isolated ARSA by itself does not significantly increase the risk of associated chromosomal abnormalities. The detection of fetal ARSA, however, mandates a detailed fetal ultrasound. Invasive testing can be deferred in cases of isolated ARSA. Larger prospective studies are required to see the role of cell-free DNA as an optimal alternative option.

Keywords

amniocentesis - ARSA - Down syndrome - trisomy 21

Publikationsverlauf

Artikel online veröffentlicht:
16. November 2023

• References

• 1 Shah N. Prenatal diagnosis of aberrant right subclavian artery in unselected North Indian population: significance and counselling. J Foetal Med 2018; 5 (02) 75-79
• 2 Paladini D, Sglavo G, Pastore G, Masucci A, D'Armiento MR, Nappi C. Aberrant right subclavian artery: incidence and correlation with other markers of Down syndrome in second-trimester fetuses. Ultrasound Obstet Gynecol 2012; 39 (02) 191-195
• 3 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 (04) 785-790
• 4 Fehmi Yazıcıoğlu H, Sevket O, Akın H, Aygün M, Özyurt ON, Karahasanoğlu A. Aberrant right subclavian artery in Down syndrome fetuses. Prenat Diagn 2013; 33 (03) 209-213
• 5 Zalel Y, Achiron R, Yagel S, Kivilevitch Z. Fetal aberrant right subclavian artery in normal and Down syndrome fetuses. Ultrasound Obstet Gynecol 2008; 31 (01) 25-29
• 6 Chaoui R, Heling KS, Sarioglu N, Schwabe M, Dankof A, Bollmann R. Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome. Am J Obstet Gynecol 2005; 192 (01) 257-263
• 7 Borenstein M, Minekawa R, Zidere V, Nicolaides KH, Allan LD. Aberrant right subclavian artery at 16 to 23 + 6 weeks of gestation: a marker for chromosomal abnormality. Ultrasound Obstet Gynecol 2010; 36 (05) 548-552
• 8 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 (03) 140-145
• 9 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 (02) 147-153
• 10 Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013; 41 (03) 247-261
• 11 Entezami M, Liepe L, Lebek H, Albig M, Hagen A. OP17. 09: 125 single examiner cases of ARSA—additional malformations and chromosomal abnormalities. Ultrasound Obstet Gynecol 2009; 34 (S1): 117
• 12 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
• 13 Gul A, Corbacioglu A, Bakirci IT, Ceylan Y. Associated anomalies and outcome of fetal aberrant right subclavian artery. Arch Gynecol Obstet 2012; 285 (01) 27-30
• 14 Pico H, Mancini J, Lafouge A, Bault JP, Gorincour G, Quarello E. Prenatal associated features in fetuses diagnosed with an aberrant right subclavian artery. Fetal Diagn Ther 2016; 40 (03) 187-194
• 15 Morlando M, Morelli C, Del Gaizo F. et al. Aberrant right subclavian artery: the association with chromosomal defects and the related post-natal outcomes in a third level referral centre. J Obstet Gynaecol 2022; 42 (02) 239-243
• 16 Martínez-Payo C, Suanzes E, Nieto-Jiménez Y. et al. Is it useful to evaluate the presence of aberrant right subclavian artery in prenatal diagnosis ultrasounds?. J Obstet Gynaecol Res 2021; 47 (01) 359-367