Tuğba SARAÇ, Selen GÜRSOY ERZİNCAN, Lutfiye UYGUR, Çiğdem KUNT İŞGÜDER, Savcı Bekir TELEK, Recep HAS, İbrahim KALELİOĞLU

İZOLE ABERAN SAĞ SUBKLAVYAN ARTER: NONİNVAZİV PRENATAL TESTLERİN VARLIĞINDA PRENATAL TANI İÇİN İNVAZİV GİRİŞİM ÖNERİLMELİ Mİ?

Amaç: Aberan sağ subklavyen arter (ASSA), izole veya diğer ultrason belirteçleri ve/veya konjenital anomalilere eşlik eden bir aortik ark anomalisidir. Bu çalışmada, prenatal sonografide izole ASSA saptanan olgularda prenatal invaziv test (PIT) gerekliliğinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Mart 2015 ile Şubat 2021 arasında ikinci üçay ultrasonografi değerlendirilmesi yapılan 7690 fetüsten oluşan popülasyonda, ASSA varlığı retrospektif olarak değerlendirildi. ASSA ile birlikte ek konjenital anomalisi olan hastalara PIT önerilirken, ASSA’nın izole olduğu olgularda 22q11.2 mikrodelesyon/ dublikasyon (MMS) dahil hücre dışı DNA (cfDNA) testi veya PIT önerilmiştir. Bulgular: ASSA bulunan 95 fetüste ortalama gebelik haftası 20,26±3,93 olarak saptanmıştır. Bunlardan 42’sinde izole ASSA, 53’ünde ise ASSA dışı ek bulgular mevcuttu. İzole olguların hiçbirinde kromozom anomalisi saptanmazken, izole olmayan 53 olgudan, 14’ünde Trizomi 21, birinde Trizomi 18, birinde ise 47, XX,+i(9)(p10) saptanmıştır. Kromozom anomalisi saptanan fetüslerin tamamında ek anomali ve/veya minor belirteçler eşlik etmekteydi. Sonuç: Prenatal ultrasonografide izole ASSA saptanan olgularda, 22q11.2 MMS da dahil olmak üzere noninvaziv cfDNA testinin yapılması yeterli olabilir. Ancak, ek majör anomali, minör belirteç veya tarama testinde risk artışı varlığında PIT önerilmelidir. Anahtar Kelimeler: Aberran sağ subklavyen arter, hücre dışı DNA, Down sendromu, 22q11 mikrodelesyonu, prenatal tanı, ultrason

Anahtar Kelimeler:

Aberan sağ subklavyan arter, Hücre dışı DNA, Down sendromu

ISOLATED ABERRANT RIGHT SUBCLAVIAN ARTERY: SHOULD INVASIVE INTERVENTION BE RECOMMENDED IN THE ERA OF NONINVASIVE PRENATAL TESTS?

Objective: An aberrant right subclavian artery (ARSA) is an aortic arch anomaly isolated or associated with other ultrasound markers and/or congenital anomalies. This study aimed to evaluate the necessity of invasive prenatal tests (PIT) in cases with isolated ARSA (iARSA) in prenatal sonography. Materials and Methods: The presence of ARSA was evaluated retrospectively in 7690 fetuses who underwent a second-trimester ultrasonography evaluation between March 2015 and February 2021. PIT was recommended for patients with non-iARSA. cfDNA test (including 22q11.2 microdeletion/duplication syndrome (MMS) or PIT was suggested for patients with iARSA. Results: The mean week of gestation was 20.26±3.93 in 95 fetuses diagnosed with ARSA. Of the fetuses, fourty-two (44%) had iARSA, and 53 (56%) had additional findings. No chromosomal abnormality was found in any of the isolated cases. Trisomy 21 in 14, Trisomy 18 in one, 47,XX,+i(9)(p10) in one of 53 were found in non-isolated cases. Additional abnormalities and/or soft ultrasound markers were accompanied in all fetuses with chromosomal abnormalities. Conclusion: When iARSA is detected in prenatal ultrasonography, cfDNA testing may be sufficient, including 22q11.2 MMS. However, PIT should be recommended in the presence of structural abnormalities, soft ultrasound markers, or increased risk in the antenatal screening test.

Keywords:

Aberrant right subclavian artery, cell-free DNA Down syndrome, 22q11.2 microdeletion, prenatal diagnosis,

PDF

___

1. Svirsky R, Reches A, Brabbing-Goldstein D, Bar-Shira A, Yaron Y. Association of aberrant right subclavian artery with abnormal karyotype and microarray results. Prenat Diagn 2017;37(8):808-11. [CrossRef] google scholar
2. Chaoui R, Heiling K, 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(1):257-63. [CrossRef] google scholar
3. Borenstein M, Cavoretto P, Allan L, Huggon I, Nicolaides KH. Aberrant right subclavian artery at 11+0 to 13+6 weeks of gestation in chromosomally normal and abnormal fetuses. Ultrasound Obstet Gynecol 2008;31(1):20-4. [CrossRef] google scholar
4. 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(5):548-52. [CrossRef] google scholar
5. 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. [CrossRef] google scholar
6. Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second- trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41(3):247-61. [CrossRef] google scholar
7. Morlando M, Morelli C, Del Gaizo F, Fusco A, De Fazio F, Di Pietto L, 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(2):239-43. [CrossRef] google scholar
8. Sagi-Dain L, Singer A, Josefsberg S, Peleg A, Lev D, Samra NN, et al. Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review. Ultrasound Obstet Gynecol 2019;53(6):810-5. [CrossRef] google scholar
9. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350(9076):485-7. [CrossRef] google scholar
10. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2017;50(3):302-14. [CrossRef] google scholar
11. Avram CM, Shaffer BL, Sparks TN, Allen AJ, Caughey AB. Cell-free fetal DNA screening for detection of microdeletion syndromes: a cost-effectiveness analysis. J Matern Fetal Neonatal Med 2021;34(11):1732-40. [CrossRef] google scholar
12. Dar P, Jacobsson B, Clifton R, Egbert M, Malone F, Wapner RJ, et al. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. Am J Obstet Gynecol 2022;227(1):79.e1-11 [CrossRef] google scholar
13. Schmid M, Wang E, Bogard PE, Bevilacqua E, Hacker C, Wang S, et al. Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test. Fetal Diagn Ther 2018;44(4):299-304. [CrossRef] google scholar
14. Bevilacqua E, Jani JC, Chaoui R, Suk EA, Palma-Dias R, Ko TM, et al. Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort. Ultrasound Obstet Gynecol 2021;58(4):597-602. [CrossRef] google scholar
15. Liang D, Cram DS, Tan H, Linpeng S, Liu Y, Sun H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med 2019;21(9):1998-2006. [CrossRef] google scholar
16. 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(2):191-5. [CrossRef] google scholar
17. Rembouskos G, Passamonti U, De Robertis V, Tempesta A, Campobasso G, Volpe G, et al. Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography. Prenat Diagn 2012;3(10)2:968-75. [CrossRef] google scholar
18. Esmer AC, Gul A, Nehir A, Yuksel A, Dural O, Kalelioglu I, et al. Detection rate of trisomy 21in fetuses with isolated and non-isolated aberrant right subclavian artery. Fetal Diagn Ther 2013;34(3):140-5. [CrossRef] google scholar
19. Ayaz R, Goktas E, Turkyilmaz G, Asoglu MR. Prenatal identification of aberrant right subclavian artery in isolation: the need for further genetic work-up? Acta Clin Croat 2020;59(4):582-9. [CrossRef] google scholar
20. Lourenço CSFP, Carriço AL, Valente FMDS. Prenatal diagnosis of aberrant right subclavian artery: association with genetic abnormalities. Rev Bras Ginecol Obstet 2021;43(6):452-6. [CrossRef] google scholar
21. 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. [CrossRef] google scholar
22. De León-Luis J, Gámez F, Bravo C, Tenías JM, Arias Á, Pérez R, 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):147-53. [CrossRef] google scholar
23. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45(3):249-66. [CrossRef] google scholar
24. Gursoy Erzincan S, Karamustafaoglu Balci B, Tokgoz C, Kalelioglu IH. Incidence of aberrant right subclavian artery on second trimester ultrasonography in an unselected population. J Ultrasound Med 2017;36(5):1015-9. [CrossRef] google scholar
25. Behram M, Süzen Çaypınar S, Oğlak SC, Sezer S, Çorbacıoğlu Esmer A. Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma. Turk J Obstet Gynecol 2021;18(2):103-8. [CrossRef] google scholar
26. Maya I, Kahana S, Yeshaya J, Tenne T, Yacobson S, Agmon-Fishman I, et al. Chromosomal microarray analysis in fetuss with aberrant right subclavian artery. Ultrasound Obstet Gynecol 2017;49(3):337-41. [CrossRef] google scholar