Araştırma Makalesi
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Aberrant right subclavian artery: is a strong marker for Down syndrome and congenital heart disease?

Yıl 2021, , 185 - 190, 04.01.2021
https://doi.org/10.31362/patd.753921

Öz

Purpose: The association between fetal aberrant right subclavian artery (ARSA) and Down syndrome has been known for a long time. The aim of our study was to determine the incidence of ARSA in our population and its association with Down syndrome and congenital heart diseases (CHD).
Materials and Methods: Between 2015-2018 years, fetal echocardiography was performed in 3150 pregnant population at a tertiary referral center for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view by color Doppler sonography during fetal echocardiography. The frequency of ARSA and its correlation with Down syndrome were investigated in our study.
Results: Among the 3150 patients, an ARSA was detected in 42 fetuses (1.3%) and isolated ARSA was detected in 36 fetuses (1.14%). Of nine fetuses with Down syndrome, ARSA was positive in two (22.2%). ARSA was positive in only one of the fetuses with CHD (4.1%). The positive likelihood ratios of isolated ARSA for Down syndrome and CHD were 0.73 and 3.81, respectively.
Conclusion: In our case series, prenatal detection of ARSA does not appear to be a strong marker alone of Down syndrome and the isolated ARSA shows a weak association with CHD.

Kaynakça

  • Referans1 Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 1983;249:2034–2038. doi:10.1001/jama.1983.03330390038028
  • Referans2 Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41:247-261. doi: 10.1002/uog.12364. Epub 2013 Jan 24.
  • Referans3 Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998;80:213-7.
  • Referans4 Zapata H, Edwards JE, Titus JL. Aberrant right subclavian artery with left aortic arch: associated cardiac anomalies. Pediatr Cardiol. Jul 1993;14:159-161. doi: 10.1007/BF00795645.
  • Referans5 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;192:257–263. doi: 10.1016/j.ajog.2004.06.080.
  • Referans6 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;39:191-195. doi: 10.1002/uog.10053.
  • Referans7 Gardiner H, Chaoui R. The fetal three-vessel and tracheal view revisited. Semin Fetal Neonatal Med 2013;18:261-268. doi: 10.1016/j.siny.2013.01.007.
  • Referans8 Willruth AM, Dwinger N, Ritgen J, Stressig R, Gelpel A, Gembruch U, Berg C: Fetal aberrant right subclavian artery (ARSA) – a potential new soft marker in the genetic scan? Ultraschall Med 2012;33:E114–E118.
  • Referans9 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;36:548–552. doi: 10.1002/uog.7683.
  • Referans10 Zalel Y, Achiron R, Yagel S, Kivilevitch Z: Fetal aberrant right subclavian artery in normal and Down syndrome fetuses. Ultrasound Obstet Gynecol 2008;31:25–29. doi: 10.1002/uog.5230.
  • Referans11 Yazicioglu HF, Sevket O, Akin H, Aygun M, Ozyurt ON, Karahasanoglu A. Aberrant right subclavian artery in Down syndrome fetuses. Prenat Diagn 2013;33:209-213. doi: 10.1002/pd.4042.
  • Referans12 Esmer AC, Gul A, Nehir A, Yuksel A, Dural O, Kalelioglu I, Has R, et al. Detection rate of trisomy 21 in fetuses with isolated and non-isolated aberrant right subclavian artery. Fetal Diagn Ther 2013;34:140-145. doi: 10.1159/000354650.
  • Referans13 Evans PR. Cardiac anomalies in Mongolism. Br Heart J 1950;12:258–262.
  • Referans14 Strauss I. Congenital cardiac anomalies with mongolism. Trans Am Coll Cardiol 1953;3:214–221.
  • Referans15 Molz G, Burri B. Aberrant subclavian artery (arteria lusoria): sex differences in the prevalence of various forms of the malformation. Virchows Arch A Path Anat Histol 1978;380:303–315.
  • Referans16 Rowe RD, Uchida IA. Cardiac malformation in mongolism: a prospective study of 184 mongoloid children. Am J Med 1961;31:726–729.
  • Referans17 Goldstein WB. Aberrant right subclavian artery in Mongolism. Am J Roentgenol Radium Ther Nucl Med 1965;95:131–134.
  • Referans18 Lo RNS, Leung PM, Lau KC, Yeung CY. Congenital cardiovascular malformations in Chinese children with Down’s syndrome. Chin Med J 1989;102:382–386.
  • Referans19 Rathore MH, Sreenivasan VV. Vertebral and right subclavian artery abnormalities in the Down syndrome.Am J Cardiol 1989;63:1528–1529.
  • Referans20 Gursoy Erzincan S, Karamustafaoglu Balci B, Tokgoz C, Kalelioglu IH. Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population. J Ultrasound Med 2017;36:1015–1019. DOI: 10.7863/ultra.16.05075.
  • Referans21 De Leon-Luis J, Gamez F, Bravo C, Tenias J.M., Arias A, Perez R, Marotos E, et al. Second-trimester fetal aberrant right subclavian artery: original study, systemic review and metaanalysis of performance in detection of Down syndrome. Ultrasound Obstet Gynecol 2014;44:147–153. DOI: 10.1002/uog.13336

Aberran sağ subklavyen arter: down sendromu ve konjenital kalp hastalığı için güçlü bir belirteç midir?

Yıl 2021, , 185 - 190, 04.01.2021
https://doi.org/10.31362/patd.753921

Öz

Amaç: Fetal aberran sağ subklavyen arter (ARSA) ile Down sendromu arasındaki ilişki uzun zamandır bilinmektedir. Çalışmamızın amacı popülasyonumuzdaki ARSA insidansını ve Down sendromu ve konjenital kalp hastalıkları (KKH) ile ilişkisini belirlemektir.
Gereç ve Yöntem: 2015-2018 yılları arasında üçüncü basamak merkezde prenatal tanı için 3150 gebeye fetal ekokardiyografi yapıldı. ARSA varlığı, fetal ekokardiyografi sırasında transvers 3 damar trakea planında renkli Doppler sonografide görüntülenmesi ile doğrulandı. Çalışmamızda ARSA'nın sıklığı ve Down sendromu ile korelasyonu araştırıldı.
Bulgular: 3150 hasta arasında 42 fetüste (% 1.3) ARSA, 36 fetüste (% 1.14) izole ARSA saptandı. Down sendromlu dokuz fetüsten iki hastada (% 22.2) ARSA pozitifti. ARSA, KKH olan fetüslerden sadece birinde pozitifti (% 4.1). İzole ARSA'nın Down sendromu ve CHD için pozitif olasılık oranları sırasıyla 0.73 ve 3.81 idi.
Sonuç: Olgu serimizde, prenatal ARSA'nın saptanması Down sendromu için tek başına güçlü bir marker gibi görünmemektedir ve izole ARSA, KKH ile zayıf bir ilişki göstermektedir.

Kaynakça

  • Referans1 Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 1983;249:2034–2038. doi:10.1001/jama.1983.03330390038028
  • Referans2 Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41:247-261. doi: 10.1002/uog.12364. Epub 2013 Jan 24.
  • Referans3 Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998;80:213-7.
  • Referans4 Zapata H, Edwards JE, Titus JL. Aberrant right subclavian artery with left aortic arch: associated cardiac anomalies. Pediatr Cardiol. Jul 1993;14:159-161. doi: 10.1007/BF00795645.
  • Referans5 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;192:257–263. doi: 10.1016/j.ajog.2004.06.080.
  • Referans6 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;39:191-195. doi: 10.1002/uog.10053.
  • Referans7 Gardiner H, Chaoui R. The fetal three-vessel and tracheal view revisited. Semin Fetal Neonatal Med 2013;18:261-268. doi: 10.1016/j.siny.2013.01.007.
  • Referans8 Willruth AM, Dwinger N, Ritgen J, Stressig R, Gelpel A, Gembruch U, Berg C: Fetal aberrant right subclavian artery (ARSA) – a potential new soft marker in the genetic scan? Ultraschall Med 2012;33:E114–E118.
  • Referans9 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;36:548–552. doi: 10.1002/uog.7683.
  • Referans10 Zalel Y, Achiron R, Yagel S, Kivilevitch Z: Fetal aberrant right subclavian artery in normal and Down syndrome fetuses. Ultrasound Obstet Gynecol 2008;31:25–29. doi: 10.1002/uog.5230.
  • Referans11 Yazicioglu HF, Sevket O, Akin H, Aygun M, Ozyurt ON, Karahasanoglu A. Aberrant right subclavian artery in Down syndrome fetuses. Prenat Diagn 2013;33:209-213. doi: 10.1002/pd.4042.
  • Referans12 Esmer AC, Gul A, Nehir A, Yuksel A, Dural O, Kalelioglu I, Has R, et al. Detection rate of trisomy 21 in fetuses with isolated and non-isolated aberrant right subclavian artery. Fetal Diagn Ther 2013;34:140-145. doi: 10.1159/000354650.
  • Referans13 Evans PR. Cardiac anomalies in Mongolism. Br Heart J 1950;12:258–262.
  • Referans14 Strauss I. Congenital cardiac anomalies with mongolism. Trans Am Coll Cardiol 1953;3:214–221.
  • Referans15 Molz G, Burri B. Aberrant subclavian artery (arteria lusoria): sex differences in the prevalence of various forms of the malformation. Virchows Arch A Path Anat Histol 1978;380:303–315.
  • Referans16 Rowe RD, Uchida IA. Cardiac malformation in mongolism: a prospective study of 184 mongoloid children. Am J Med 1961;31:726–729.
  • Referans17 Goldstein WB. Aberrant right subclavian artery in Mongolism. Am J Roentgenol Radium Ther Nucl Med 1965;95:131–134.
  • Referans18 Lo RNS, Leung PM, Lau KC, Yeung CY. Congenital cardiovascular malformations in Chinese children with Down’s syndrome. Chin Med J 1989;102:382–386.
  • Referans19 Rathore MH, Sreenivasan VV. Vertebral and right subclavian artery abnormalities in the Down syndrome.Am J Cardiol 1989;63:1528–1529.
  • Referans20 Gursoy Erzincan S, Karamustafaoglu Balci B, Tokgoz C, Kalelioglu IH. Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population. J Ultrasound Med 2017;36:1015–1019. DOI: 10.7863/ultra.16.05075.
  • Referans21 De Leon-Luis J, Gamez F, Bravo C, Tenias J.M., Arias A, Perez R, Marotos E, et al. Second-trimester fetal aberrant right subclavian artery: original study, systemic review and metaanalysis of performance in detection of Down syndrome. Ultrasound Obstet Gynecol 2014;44:147–153. DOI: 10.1002/uog.13336
Toplam 21 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Kadın Hastalıkları ve Doğum
Bölüm Araştırma Makalesi
Yazarlar

Emine Demir 0000-0003-3799-3432

Emre Ekmekci 0000-0003-2494-3073

Sefa Kelekcı 0000-0002-9952-3068

Yayımlanma Tarihi 4 Ocak 2021
Gönderilme Tarihi 18 Haziran 2020
Kabul Tarihi 23 Kasım 2020
Yayımlandığı Sayı Yıl 2021

Kaynak Göster

AMA Demir E, Ekmekci E, Kelekcı S. Aberrant right subclavian artery: is a strong marker for Down syndrome and congenital heart disease?. Pam Tıp Derg. Ocak 2021;14(1):185-190. doi:10.31362/patd.753921
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