Prenatal diagnosis of aberrant right

subclavian artery in an unselected

population

Mi Jin Song1, Byoung Hee Han1, Young-Hwa Kim1, So Young Yoon2, Yoo Mi Lee1,
Hye Su Jeon1, Bo Kyung Park1 ORIGINAL ARTICLE
Departments of 1Radiology and 2Pediatrics, Cheil General Hospital and Women’s Healthcare https://doi.org/10.14366/usg.16046
pISSN: 2288-5919 • eISSN: 2288-5943
Center, Dankook University College of Medicine, Seoul, Korea Ultrasonography 2017;36:278-283

Purpose: The purpose of this study was to determine the frequency of aberrant right subclavian
artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal
Received: November 21, 2016
abnormalities and other congenital anomalies. Revised: February 20, 2017
Methods: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine Accepted: February 20, 2017

antenatal sonography at our institution between April 2014 and September 2015. The right Correspondence to:
Byoung Hee Han, MD, Department of
subclavian artery was assessed using grayscale and color Doppler ultrasonography in the Radiology, Cheil General Hospital and
transverse 3-vessel and tracheal view, and confirmed in the coronal plane. Women’s Healthcare Center, Dankook
University College of Medicine, 17
Results: ARSA was found in 28 fetuses (0.4%). Further, 27 of these 28 fetuses were euploid Seoae-ro 1-gil, Jung-gu, Seoul 04619,
(96.4%). Trisomy 18 was the only chromosomal anomaly (3.6%) found in the study sample. Korea
ARSA was an isolated finding in 23 of the 28 cases (82.1%). In the remaining three cases (10.7%), Tel. +82-2-2000-7363
Fax. +82-2-2000-7369
ARSA was accompanied with extracardiac anomalies. Other cardiac defects were present in three E-mail: [email protected]
cases (10.7%).
Conclusion: Isolated ARSA does not seem to be associated with a significantly increased risk of
aneuploidy. However, the possibility of fetal karyotyping, which is a more invasive procedure,
should be discussed in the light of the overall risk of the fetus. This is an Open Access article distributed under the
terms of the Creative Commons Attribution Non-
Commercial License (http://creativecommons.org/
licenses/by-nc/3.0/) which permits unrestricted non-
Keywords: Aberrant right subclavian artery; Aorta, thoracic; Chromosome aberrations; commercial use, distribution, and reproduction in
any medium, provided the original work is properly
Fetal echocardiography; Prenatal diagnosis; Ultrasound cited.

Copyright © 2017 Korean Society of

Ultrasound in Medicine (KSUM)

Introduction
Aberrant right subclavian artery (ARSA) is the most common congenital abnormality of the aortic
arch [1-6]. In ARSA, the right aortic arch regresses between the right common carotid and right
subclavian arteries, instead of being distal to them. Therefore, this hinders the fusion of the right
common carotid and right subclavian arteries to form the brachiocephalic artery. Ultimately, this
results in the left aortic arch giving rise to four arteries: the right common carotid, the left common How to cite this article:
Song MJ, Han BH, Kim YH, Yoon SY, Lee
carotid, the left subclavian, and the aberrant right subclavian arteries. ARSA, arising most distally from YM, Jeon HS, et al. Prenatal diagnosis
the aortic arch, must course from the left side of the spine, behind the esophagus and the trachea, to of aberrant right subclavian artery in an
unselected population. Ultrasonography. 2017
the right upper arm. It is also known as aberrant retroesophageal right subclavian artery [2]. It should Jul;36(3):278-283.

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ARSA in unselected population

be noted that ARSA is, in general, an asymptomatic benign finding; 5-MHz curvilinear transducers. Right subclavian artery assessment
however, esophageal compression, resulting in dysphagia, has been was carried out by five sonographers who are experts in obstetric
reported in some cases [7,8]. ultrasonography. During fetal echocardiography, the course of the
The identification of ARSA in fetuses with Down syndrome was right subclavian artery was observed after the assessment of the
first reported in 2005 by Chaoui et al. [9]. Since then, a few other 4-chamber view, outflow tracts, and the 3-vessel and tracheal view.
studies have confirmed the feasibility of prenatally diagnosing this In addition to the B-mode segmental view approach, color Doppler
benign aortic arch branching anomaly [2,4,5,10-12]. Prenatal ultrasonography was used for visualizing the transverse 3-vessel and
ultrasonography studies have revealed that the incidence of tracheal view, as previously described by Chaoui et al. [9]. In order
ARSA in the second trimester ranges between 0.4% and 1.5% in to accomplish this, the color Doppler velocity settings were adjusted
chromosomally normal fetuses [1,4,12-16]. downward (range, 15 to 30 cm/sec) to facilitate the visualization
The first aim of our study was to estimate the prevalence of of the peripheral vessels. The normal right subclavian artery in the
fetal ARSA in our unselected population, the second aim was to axial plane was visualized as an S-shaped vessel passing anterior
evaluate the association of ARSA with chromosomal abnormalities, to the trachea at the clavicle level (Fig. 1A). ARSA arose as the last
and the third aim was to investigate the coexistence of ARSA and vessel before the aortic isthmus and took a retrotracheal course
extracardiac or cardiac anomalies. behind the trachea to the right arm (Fig. 1B). The course of ARSA
was straight, without an S-shape proximal concavity surrounding the
Materials and Methods trachea anteriorly. In order to assess ARSA, we obtained a coronal
view of the fetal thorax, posterior to the trachea and anterior to
Approval from the Institutional Review Board (CGH-IRB-2015-38) the spine, until we could see the thoracic descending aorta. Color
was obtained for this retrospective study, and the need for Doppler ultrasonography showed ARSA as a vessel arising from the
informed consent was waived. We investigated the course of the descending aorta at the level of the aortic isthmus [11]. ARSA then
right subclavian artery during fetal echocardiography in 7,547 followed an oblique course towards the right clavicle and shoulder
consecutive patients with a gestational age of between 20 and 34 (Fig. 2).
weeks. Routine transabdominal ultrasonography was performed Prenatal karyotype analysis was proposed in each case of ARSA.
on unselected patients who visited our clinic between April 2014 The outcomes of each pregnancy, including the presence of fetal
and September 2015. Examinations were performed using Voluson abnormalities, cardiac defects, and the karyotype, were collected. The
730 Expert (GE Healthcare, Milwaukee, WI, USA) and iU 22 (Philips karyotype was obtained prenatally from an amniotic fluid sample.
Medical Systems, Bothell, WA, USA) machines equipped with 1- to If the karyotype was not analyzed prenatally, but the newborn

ANT ANT
T
T

RT RT
A B
Fig. 1. Comparison of color Doppler images of normal and aberrant right subclavian artery (ARSA) detected during the second trimester.
A. Color Doppler axial image shows the course of the normal right subclavian artery (arrows) anterior to the trachea (T). The typical “S”
shape can be observed here. B. ARSA (arrows) arises from the junction of the aortic arch and ductus arteriosus and passes behind the
trachea (T) towards the right arm. ANT, anterior; RT, right.

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 Mi Jin Song, et al.

cardiac malformations, including persistent left superior vena cava

RT
and aneurysmal dilatation of the proximal portion of the ARSA,
called Kommerell diverticulum (case 14) (Fig. 3); ventricular septal
defect (case 19); and coarctation of the aorta (case 28).
All 28 children were live-born. Seventeen were girls, and 11
were boys (60.7% vs. 39.3%). Postnatal echocardiography was
CRANIAL performed in the 24 affected cases to confirm the prenatal findings.
DA
A small atrial septal defect was additionally detected on postnatal
echocardiography in one case.

Discussion
Fig. 2. Color Doppler ultrasonographic coronal image showing Recently, ARSA has become prominent as an ultrasonographic
an aberrant right subclavian artery (arrows) arising from the marker of Down syndrome [9]. There have been many relevant
descending aorta (DA) with an oblique course towards the right studies on the prenatal ultrasonography of ARSA, and descriptions
shoulder. RT, right.
of its prevalence and correlation with Down syndrome
[1,4,7,9,12,14-19]. ARSA can be a useful ultrasonographic marker
appeared clinically normal, then the karyotype was considered of Down syndrome in first-trimester screenings [5,17]. However, the
normal for major aneuploidies. Additional case information, prevalence of ARSA may decrease with advancing gestation [1]. The
including the gestational age at the time of diagnosis and postnatal ultrasonographic assessment of ARSA is not routinely performed in
echocardiogram, was also collected. the first trimester, and it is possible that cases of fetal aneuploidy
with ARSA were missed because of spontaneous miscarriage or
Results termination of the pregnancy after prenatal confirmation. The
performance of a fetal karyotype test when ARSA is an isolated
In the 18-month period between April 2014 and September finding is still a debatable issue.
2015, we assessed 7,547 routine patients in the second and third The most common aortic arch anomaly is ARSA [2,5,6,8].
trimesters. ARSAs were detected in 28 cases (0.4%), including three The incidence of ARSA in the normal population in prenatal and
cases of twins. The mean gestational age at the time of detection postmortem studies has been reported to be approximately 0.4%-
was 24 weeks (range, 20 to 34 weeks). Twenty cases were detected 2% [1,4,15,16,18]. In the prospective study of Rembouskos et
during the second trimester. The other six cases were missed during al. [5], ARSA was observed in 89 of 6,605 fetuses (1.4%) with
ultrasonography performed in the second trimester, and were normal karyotypes. Gul et al. [15] investigated the course of the
detected in the third trimester. Two cases were diagnosed at 32 right subclavian artery in 4,125 consecutive low-risk pregnancies
weeks at the patients’ first visit to our institution. between 17 and 33 weeks of gestation. The prevalence of ARSA
Twenty-seven fetuses with ARSA were chromosomally or in their study population was 17 of 4,120 (0.4%). The average
morphologically normal, but one fetus had trisomy 18 (case 19). The prenatal prevalence of ARSA in the normal population was 1.0%.
karyotype was obtained from an amniotic fluid sample prenatally in Our prenatal prevalence of ARSA was 0.4%.
12 cases. Amniocentesis was performed for the following indications: Prenatal studies reported an ARSA prevalence of 6.8%-37.5%
advanced maternal age (6 cases, 50%), integrated test screening in Down syndrome fetuses [7,12]. There was no case of Down
positive for Down syndrome (4 cases, 33.3%), and abnormal second syndrome with ARSA in our study; this is a much lower incidence
trimester ultrasonography findings (2 cases, 16.7%). than that reported in the previous studies [9,12,14]. We examined
Moreover, 23 of the ARSA cases (82.1%) were isolated findings. fetal echocardiograms during the second trimester among unselected
Extracardiac anomalies were present in three fetuses (10.7%). patients. We did not perform fetal echocardiography in first-trimester
These included bilateral choroid plexus cysts and unilateral cerebral fetuses. Therefore, patients diagnosed with Down syndrome during
ventriculomegaly (case 6); echogenic bowel and unilateral renal the first trimester were not included. During the study period, 44
pelvis dilatation (case 7); and bilateral choroid plexus cysts, bilateral cases of Down syndrome were recorded at our institution. Forty of
cerebral ventriculomegaly, small ears, and clenched right hand these 44 cases of Down syndrome were confirmed before 16 weeks
(case 19). In three cases (10.7%), ARSA was accompanied by other of gestation, and they were all lost to follow-up before performing

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ARSA in unselected population

RT
CAUDAL

POST

A B

RT

Fig. 3. Aneurysmal dilatation of the descending aorta and

proximal portion of the aberrant right subclavian artery (ARSA) at
29 weeks of gestation.
A-C. Axial (A) and sagittal (B) images show the dilated descending
POST aorta and proximal portion of the ARSA (arrows) with a turbulent
flow (C). POST, posterior; RT, right.
C

fetal echocardiography in the second trimester. Among the four Walker malformation, echogenic bowel, esophageal duplication cyst,
live-born neonates with Down syndrome, three revealed several hypoplasic nasal bone, intrauterine growth restriction, low-set ears,
soft markers such as short long bone, echogenic bowel, and mild micrognatia, polycystic kidney disease, polydactyly, pyelectasis, short
cerebral ventriculomegaly, and one showed persistent left superior femur and humerus, single umbilical artery, strawberry head, thick
vena cava. However, ARSA was not detected in them. nuchal fold, and thymic hypoplasia [5,7,15].
In this study, in 23 of the 28 cases, ARSA (82.1%) was an isolated An additional cardiac defect was present in three cases (10.7%)
finding. Previous studies have reported that ARSA was diagnosed in our study. Thus far, the most frequently reported structural
as an isolated finding in 52.9%-65% of cases [7,15,16]. The abnormality coexisting with ARSA has been cardiac defects (5.4%-
higher rate of isolated ARSA in our study can be explained by the 23.5%) [5,7,15,16]. These cardiac defects include aortic stenosis,
exclusion of early-diagnosed fetal anomalies. We hypothesized that atrioventricular septal defect, dextrocardia, dilated ductus arteriosus,
an undetermined fraction of cases with severe abnormalities with double-outlet right ventricle, persistent left superior vena cava,
ARSA in the first trimester were either stillborn babies or were lost rhabdomyoma, tetralogy of Fallot, tricuspid atresia, and ventricular
to follow-up. septal defect [5,7,15]. A correlation between ARSA and congenital
In this study, three cases (10.7%) of ARSA were accompanied with heart defects (CHDs) was reported earlier. Zapata et al. [3]
extracardiac anomalies. The detection rate of extracardiac anomalies performed a postnatal study of 11,000 pathologic specimens. They
with ARSA has thus far been reported in approximately 5%-26.7% found that the incidence of ARSA was 2.9% in patients with a CHD
of cases [5,7,15,16]. These extracardiac anomalies include arachnoid and 0.1% in patients with normal hearts, suggesting a correlation
cysts, cataracts, choroid plexus cysts, cleft lip and palate, cloacal between ARSA and CHDs. However, definitive conclusions on the
dysgenesis, corpus callosum agenesis, cystic hygroma, Dandy- prenatal correlation between CHDs and ARSA cannot be drawn

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 Mi Jin Song, et al.

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Conflict of Interest subclavian artery (ARSA) in normal fetuses: a new soft marker
No potential conflict of interest relevant to this article was reported. for trisomy 21 risk assessment. Ultrasound Obstet Gynecol
2005;26:356.
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