Diagnostic Yield of Chromosomal Microarray to Examine the Genetic Factors Associated with Fetal Aberrant Right Subclavian Artery

Overview

Journal Arch Gynecol Obstet

Date 2025 Feb 3

PMID 39899060

Authors

Wenli Wu

Fanyong Zhang

Yuting Li

Peng Li

Miao Liu

Fengge Wang

Dongmei Man

Affiliations

Soon will be listed here.

Abstract

Purpose: The primary objective was to find the risk factors that increase the probability of chromosomal abnormalities in fetal aberrant right subclavian artery (ARSA). Secondary objectives were to assess the factors which impact the adverse pregnancy outcomes in ARSA fetuses.

Methods: This retrospective study included a total of 104 pregnant women whose fetuses were diagnosed with ARSA from January 2020 to July 2024, with subsequent chromosomal microarray analysis (CMA) performed.

Results: Among the 104 cases of ARSA in this study, 46 (44.2%) were classified as isolated ARSA and 58 (55.8%) as non-isolated ARSA. Classification of non-isolated ARSA based on ultrasound soft marker abnormalities and structural abnormalities showed that an increase in the number of combined ultrasound soft marker abnormalities was associated with increased fetal chromosomal abnormalities and pathogenicity. In fetuses with structural abnormalities and ultrasonographic soft markers, they have more microarray abnormalities and higher pathogenicity compared to ARSA with only a single soft marker. The chromosomal abnormalities in ARSA fetuses predominantly manifest as trisomy 21, partial segmental microduplications, and microdeletions. Logistic regression analysis indicated that the presence of ultrasonographic soft marker abnormalities alongside ARSA serves as a risk factor for adverse pregnancy outcomes in ARSA fetuses.

Conclusion: In contrast to isolated ARSA, chromosomal disorders indicate a significant risk in ARSA accompanied by ultrasound abnormalities, and the risk is closely related to the number of ultrasonographic soft marker abnormalities. In addition, the combination of ultrasonographic soft marker abnormalities was a risk factor for adverse pregnancy outcomes in ARSA, while maternal age, structural abnormalities, polyhydramnios, and intrauterine growth restriction were not associated with it.

References

Yoo S, Min J, Lee Y, Roman K, Jaeggi E, Smallhorn J . Fetal sonographic diagnosis of aortic arch anomalies. Ultrasound Obstet Gynecol. 2003; 22(5):535-46. DOI: 10.1002/uog.897. View

Morlando M, Morelli C, Del Gaizo F, Fusco A, De Fazio F, Di Pietto L . Aberrant right subclavian artery: the association with chromosomal defects and the related post-natal outcomes in a third level referral centre. J Obstet Gynaecol. 2021; 42(2):239-243. DOI: 10.1080/01443615.2021.1904228. View

Natsis K, Didagelos M, Gkiouliava A, Lazaridis N, Vyzas V, Piagkou M . The aberrant right subclavian artery: cadaveric study and literature review. Surg Radiol Anat. 2016; 39(5):559-565. DOI: 10.1007/s00276-016-1796-5. View

Cai M, Lin N, Fan X, Chen X, Xu S, Fu X . Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study. Front Pediatr. 2022; 10:895562. PMC: 9203729. DOI: 10.3389/fped.2022.895562. View

Zingarelli A, Castiglione Morelli M, Seitun S, Bezante G, Balbi M, Brunelli C . Aberrant right subclavian artery (arteria lusoria) challenging 4-French homolateral transradial coronary catheterisation in adulthood. Heart Lung Circ. 2015; 24(10):e164-8. DOI: 10.1016/j.hlc.2015.04.172. View

Borenstein M, Minekawa R, Zidere V, Nicolaides K, Allan L . 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. DOI: 10.1002/uog.7683. View

Stavridis K, Antsaklis P, Theodora M, Tasias K, Daskalakis G . Prenatal diagnosis of aberrant right subclavian artery: a literature review. J Matern Fetal Neonatal Med. 2022; 35(25):8856-8862. DOI: 10.1080/14767058.2021.2005570. View

Levy B, Wapner R . Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018; 109(2):201-212. PMC: 5856154. DOI: 10.1016/j.fertnstert.2018.01.005. View

Maya I, Kahana S, Yeshaya J, Tenne T, Yacobson S, Agmon-Fishman I . Chromosomal microarray analysis in fetuses with aberrant right subclavian artery. Ultrasound Obstet Gynecol. 2016; 49(3):337-341. DOI: 10.1002/uog.15935. View

10.

Stosic M, Levy B, Wapner R . The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. Obstet Gynecol Clin North Am. 2018; 45(1):55-68. DOI: 10.1016/j.ogc.2017.10.002. View

11.

Odacilar A, Ayhan I, Karaman A, Demirci O . Aberrant right subclavian artery in the absence of other prenatal ultrasound findings: Should we still be concerned?. J Clin Ultrasound. 2024; 52(8):1096-1102. DOI: 10.1002/jcu.23770. View

12.

Luo T, Liu S, Ran S, Dong H, Li Y, Ran Q . Associated congenital anomalies and genetic anomalies in fetuses with isolated and non-isolated aberrant right subclavian artery. J Matern Fetal Neonatal Med. 2023; 36(1):2211705. DOI: 10.1080/14767058.2023.2211705. View

13.

Chen C, Chen C, Chern S, Wu P, Chen S, Wu F . Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects. Taiwan J Obstet Gynecol. 2019; 58(5):704-708. DOI: 10.1016/j.tjog.2019.07.022. View

14.

Behram M, Suzen Caypinar S, Oglak S, Sezer S, Corbacioglu Esmer A . Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma. Turk J Obstet Gynecol. 2021; 18(2):103-108. PMC: 8191323. DOI: 10.4274/tjod.galenos.2021.69749. View

15.

Hu T, Tian T, Zhang Z, Wang J, Hu R, Xiao L . Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study. Am J Obstet Gynecol. 2020; 224(5):516.e1-516.e16. DOI: 10.1016/j.ajog.2020.10.039. View

16.

Pan L, Wu J, Liang D, Yuan J, Wang J, Shen Y . Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses. Am J Obstet Gynecol MFM. 2023; 5(10):101072. DOI: 10.1016/j.ajogmf.2023.101072. View

17.

Rembouskos G, Passamonti U, De Robertis V, Tempesta A, Campobasso G, Volpe G . Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography. Prenat Diagn. 2012; 32(10):968-75. DOI: 10.1002/pd.3942. View

18.

Rauch R, Rauch A, Koch A, Zink S, Kaulitz R, Girisch M . Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?. Eur J Pediatr. 2004; 163(11):642-5. DOI: 10.1007/s00431-004-1518-6. View

19.

McElhinney D, Clark 3rd B, Weinberg P, Kenton M, McDonald-McGinn D, Driscoll D . Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol. 2001; 37(8):2114-9. DOI: 10.1016/s0735-1097(01)01286-4. View

20.

Xue H, Zhang L, Yu A, Lin M, Guo Q, Xu L . Prenatal genetic analysis of fetal aberrant right subclavian artery with or without additional ultrasound anomalies in a third level referral center. Sci Rep. 2023; 13(1):3414. PMC: 9975173. DOI: 10.1038/s41598-023-30598-9. View