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胎儿右锁骨下动脉异常(ARSA)- 基因扫描中的一个新的潜在软指标?

Fetal aberrant right subclavian artery (ARSA) - a potential new soft marker in the genetic scan?

机构信息

Deparment of Obstetrics and Prenatal Medicine, University of Bonn.

出版信息

Ultraschall Med. 2012 Dec;33(7):E114-E118. doi: 10.1055/s-0029-1245935. Epub 2011 May 25.

Abstract

PURPOSE

The aim of this study was to evaluate the prevalence of an aberrant right subclavian artery (ARSA) in a mixed-risk population in the second trimester and to assess its potential as a new soft marker in the genetic scan.

MATERIALS AND METHODS

Fetal echocardiography was performed prospectively in 1337 fetuses at 16 - 28 weeks of gestation during a 12-month period at two referral centers for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view with color Doppler sonography.

RESULTS

The total rate of fetuses with an ARSA was 1.05 % (14 / 1337). The spectrum of associated findings in affected fetuses included: one trisomy 21, one unbalanced inversion of chromosome 9, one triploidy and two non-chromosomally related structural defects. Nine fetuses had no anomalies. The calculated odds ratio for the presence of an ARSA in the case of Down syndrome compared with healthy fetuses was 12.6 (95 % CI, 1.93 - 86.10).

CONCLUSION

The presence of an ARSA is more common in fetuses with trisomy 21 and other chromosomal defects than in healthy fetuses. Although it can be considered as a weak marker, the second trimester diagnosis of an ARSA should prompt a detailed search for additional "soft markers" and structural defects.

摘要

目的

本研究旨在评估中孕期混合风险人群中异常右锁骨下动脉(ARSA)的发生率,并评估其作为遗传筛查中新的软指标的潜力。

材料和方法

在 12 个月的时间里,在两家产前诊断转诊中心,对 1337 例 16-28 孕周的胎儿进行前瞻性胎儿超声心动图检查。通过彩色多普勒超声观察横位 3 血管气管切面来验证 ARSA 的存在。

结果

出现 ARSA 的胎儿总发生率为 1.05%(14/1337)。受影响胎儿的相关发现包括:1 例 21 三体、1 例 9 号染色体不平衡倒位、1 例三倍体和 2 例非染色体相关的结构缺陷。9 例胎儿无异常。与健康胎儿相比,21 三体综合征胎儿出现 ARSA 的计算比值比为 12.6(95%CI,1.93-86.10)。

结论

ARSA 在 21 三体和其他染色体缺陷胎儿中比在健康胎儿中更为常见。尽管它可以被视为一个较弱的指标,但在中孕期诊断出 ARSA 应促使对其他“软指标”和结构缺陷进行详细的搜索。

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