Cukuova University Medical Faculty, Obstetrics and Gynaecology Department, Perinatology Unit., Mithat ozsan Bulvari, 01130 Adana, Turkey.
Ginekol Pol. 2020;91(8):460-464. doi: 10.5603/GP.2020.0078.
We hoped to reveal the frequency of Aberrant Right Subclavian Artery (ARSA) and to find the relationship of isolated/non-isolated ARSA with chromosomal defects and other fetal congenital heart diseases (FCHD) in a heterogeneous population.
This was a retrospective cohort study conducted between December 2015 to September 2018. Women admitted for routine ultrasound examination or referred to our hospital for a suspected fetal anomaly were underwent detailed fetal anomaly ultrasonography scan and tested for the presence of ARSA.
ARSA was detected in 27 patients and an isolated finding in 13 (48%) cases. Among 13 cases with isolated ARSA, trisomy 21 was diagnosed in 1 case. In the non-isolated group (n: 14, 52%), five cases presented with trisomy 21. There was no significant difference of trisomy 21 frequency between isolated and non-isolated groups (7.6% vs 35.7%, p = 0.08). In 3 patients, FCHD was diagnosed and 2 of them had trisomy 21.
Our study shows that ARSA can be the only marker in trisomy 21. The examination of the subclavian artery must be a part of the fetal anomaly ultrasonography. Detecting an ARSA should increase the attentiveness of the sonographer to investigate for the other markers of trisomy 21. In the existence of other findings, invasive diagnostic procedures should be offered to the patients, whereas in cases that arsa is the only finding, other risk factors should be investigated to offer karyotyping or cell-free DNA analysis.
我们希望揭示右位主动脉弓（ARSA）的发生频率，并在异质人群中发现孤立/非孤立 ARSA 与染色体缺陷和其他胎儿先天性心脏病（FCHD）的关系。
这是一项回顾性队列研究，于 2015 年 12 月至 2018 年 9 月进行。接受常规超声检查或因疑似胎儿异常转诊我院的女性接受详细的胎儿异常超声扫描，并检测 ARSA 的存在。
27 例患者中检出 ARSA，其中 13 例（48%）为孤立性发现。在 13 例孤立性 ARSA 中，1 例诊断为 21 三体综合征。在非孤立组（n=14，52%）中，5 例诊断为 21 三体综合征。孤立组和非孤立组 21 三体综合征发生率无显著差异（7.6% vs 35.7%，p=0.08）。在 3 例患者中诊断出 FCHD，其中 2 例患有 21 三体综合征。
我们的研究表明，ARSA 可能是 21 三体综合征的唯一标志物。锁骨下动脉检查必须成为胎儿异常超声检查的一部分。检测到 ARSA 应增加超声医师对 21 三体综合征其他标志物的关注度。在存在其他发现的情况下，应向患者提供有创诊断程序，而在 ARSA 是唯一发现的情况下，应调查其他危险因素，以提供核型分析或游离 DNA 分析。
