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Journals / ACH Medical journal / 2023 / Volume: 2 Issue: 4

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

Bedri SAKCAK
Ramazan DENİZLİ
Nihat FARİSOĞULLARI
Zahid AĞAOĞLU
Atakan TANACAN
Özgür KARA
Dilek SAHİN
Pages
208–213
Publication Date
2023-10-02
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Non-isolated ARSA has a high incidence of chromosomal abnormalities, so early karyotyping should be recommended.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Methods: From 1 June 2021 to 1 June 2023, 47 ARSA cases were diagnosed by prenatal ultrasound in our hospital.
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Conclusion & Impact:Non-isolated ARSA has a high incidence of chromosomal abnormalities, so early karyotyping should be recommended.
🔬Design:Review & Systematic Survey
📍Scope:2021 · 23 samples
⚙️Variables:Aberrant right subclavian artery · congenital anomalies · fetal

Abstract

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.

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Cite This Article

SAKCAK, B., DENİZLİ, R., FARİSOĞULLARI, N., AĞAOĞLU, Z., TANACAN, A., KARA, Ö., SAHİN, D. (2023). Genetic Ethiology, Associated Anomalies in Fetal Aberrant Right Subclavian Artery: A Retrospective Cohort Study in a Tertiary Hospital. ACH Medical journal, Volume: 2 Issue: 4, 208–213. https://ajindex.com/articles/967010

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