Ranzini Angela C, Hyman Francine, Jamaer Emily, van Mieghem Tim
Department of Obstetrics and Gynecology, Saint Peter's University Hospital, New Brunswick, New Jersey, USA.
Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium.
J Ultrasound Med. 2017 Apr;36(4):785-790. doi: 10.7863/ultra.16.05028. Epub 2017 Jan 10.
To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion.
We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records.
Seventy-nine fetuses with ARSA were identified at 20.3 ± 3.8 weeks' gestation. Forty-eight fetuses underwent chromosomal evaluation. Of those, seven had trisomy 21. Four other fetuses had unusual karyotype abnormalities. All fetuses with genetic anomalies had additional aberrant ultrasound findings. There were three spontaneous fetal deaths (trisomy 21-2 and Wolf-Hirshhorn-1). Nine pregnancies were terminated because of abnormalities and one died as a result of hypoplastic left heart syndrome. No neonate was found or suspected to have 22q11.2 deletion. The ARSA was isolated in 43 fetuses; all had unremarkable neonatal outcomes, and none were readmitted within 6 months after discharge.
As an apparently isolated finding, ARSA is benign and not associated with trisomy 21 or 22q11.2 deletion. The finding of ARSA, however, warrants a detailed fetal ultrasound. All fetuses with ARSA and genetic anomalies had additional ultrasound findings.
确定孤立性右锁骨下动脉走行异常（ARSA）的胎儿染色体异常风险是否增加，包括21三体或22q11缺失。
我们对所有产前诊断为ARSA的胎儿进行了回顾性病历审查。数据收集自胎儿解剖学检查、胎儿超声心动图、无创21三体筛查项目、侵入性基因研究和新生儿记录。
共识别出79例妊娠20.3±3.8周的ARSA胎儿。48例胎儿接受了染色体评估。其中7例为21三体。另外4例胎儿有异常核型异常。所有有基因异常的胎儿均有其他异常超声表现。有3例胎儿自然死亡（21三体2例，Wolf-Hirshhorn综合征1例）。9例因异常终止妊娠，1例因左心发育不全综合征死亡。未发现或怀疑有新生儿22q11.2缺失。43例胎儿为孤立性ARSA；所有新生儿结局均正常，出院后6个月内均未再次入院。
作为一个明显孤立的发现，ARSA是良性的，与21三体或22q11.2缺失无关。然而，ARSA的发现需要进行详细的胎儿超声检查。所有有ARSA和基因异常的胎儿均有其他超声表现。
