Aberrant right subclavian artery in Down syndrome fetuses

Yazicioglu, H. F.; Şevket, Osman; Akin, Hale; Aygün, Mehmet; Özyurt, Osman; Karahasanoğlu, Ayşe

doi:10.1002/pd.4042

Cited by 40 publications

(61 citation statements)

References 15 publications

(42 reference statements)

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“…Several authors recommended karyotyping even if ARSA is the only positive marker [5,11], while it has been claimed that ARSA without another sonographic finding is not a powerful enough argument to recommend karyotyping [12]. In three previous series there was no case of trisomy 21 with isolated ARSA [4,6,12]. On the contrary, Chaoui et al [2] reported 5 cases of trisomy 21 having ARSA, and in 1 (20%) of them ARSA was the only positive sonographic marker.…”

Section: Discussionmentioning

confidence: 99%

“…However, whether ARSA can be used as an isolated marker of Down syndrome, or only in combination with cardiac or extracardiac sonographic findings is yet to be established. Some of the previous studies showed the presence of trisomy 21 in cases with isolated ARSA [2,9,10,11], while in the other studies ARSA was associated with another sonographic finding in all cases with a chromosomal anomaly [4,6,12]. Moreover, the estimated likelihood ratio of isolated ARSA for Down syndrome was reported as 3.94 in a meta-analysis [8].…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, the estimated likelihood ratio of isolated ARSA for Down syndrome was reported as 3.94 in a meta-analysis [8]. By contrast, in a recent study, the authors reported the positive and negative likelihood ratio of isolated ARSA to be 0.00 and 1.005, respectively [12]. …”

Section: Introductionmentioning

confidence: 99%

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Detection Rate of Trisomy 21 in Fetuses with Isolated and Non-Isolated Aberrant Right Subclavian Artery

Esmer

Gül²,

Nehir

et al. 2013

Fetal Diagn Ther

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Objective: The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA. Methods: This is a retrospective study conducted during the period between January 2008 and December 2012 at the maternal fetal medicine units of three different referral centers. Results: Among the 148 cases of ARSA, 98 were isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers. Trisomy 21 was the only chromosomal anomaly with a prevalence of 6.8% (10/148). The corresponding rate was 6.1% (6/98) and 8% (4/50) for isolated and non-isolated ARSA, respectively. Cardiac anomalies, extracardiac findings and soft markers were detected in 5.4% (8), 10.8% (16) and 24.3% (36) of cases, respectively. Among the 10 fetuses with trisomy 21, 6 were isolated, 4 were associated with soft markers, 2 were associated with fetal growth restriction and 1 was associated with hydrops fetalis. Cardiac anomalies were not observed in any of these fetuses. Conclusion: The prenatal diagnosis of ARSA should prompt meticulous anatomic survey, and karyotype analysis might be offered even in the absence of associated findings.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Detection Rate of Trisomy 21 in Fetuses with Isolated and Non-Isolated Aberrant Right Subclavian Artery

Esmer

Gül²,

Nehir

et al. 2013

Fetal Diagn Ther

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“…An abnormal origin of the right subclavian artery (SCA) in subjects with a left aortic arch is an uncommon malformation in the general population (0.4-2%) [1,2,3] and occurs in 8-37.5% of subjects in high-risk populations [3,4,5]. The right SCA normally arises from the right brachiocephalic trunk.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Pico¹,

Mancini

Lafouge³

et al. 2016

Fetal Diagn Ther

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Objective: The objective of this study was to determine the frequency and the nature of associated anomalies, especially malformations and chromosome abnormalities, in a population of fetuses with an aberrant right subclavian artery (ARSA). Materials and Methods: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities. Results: Between May 2007 and April 2014, an ARSA was diagnosed in 120 fetuses. The outcome was found in 108 cases (90%). ARSA was an isolated finding in 54/108 cases (50%). In 20% (22/108) of the fetuses, chromosomal abnormalities were detected. No chromosomal abnormalities were found in fetuses with an isolated ARSA. 82% (18/22) of chromosomal abnormalities were usual, such as trisomies 21 and 18, monosomy X, and 22q11.2 deletion. 21% (23/108) of the fetuses presenting an ARSA were associated with having a congenital heart disease. Conclusion: The presence of an isolated ARSA is a condition rarely associated with a chromosomal abnormality. The decision to perform an invasive karyotyping procedure under such circumstances or not may be made according to the principle of parental autonomy after extensive counselling and mostly a thorough assessment of the fetus.

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“…It is important to highlight the relevance of the anatomy of the subclavian arteries, especially in cases of an aberrant right subclavian artery, where this vessel is absent in view IX. Interest in an aberrant right subclavian artery has increased, owing to its association with trisomy 21 and cardiac defects, 10,12,[35][36][37][38][39] although this association seems less marked when the condition is isolated. 16 Other authors have also reported on the possibility of observing the right subclavian artery under normal conditions in the second trimester.…”

Section: View Ix: Subclavian Arteriesmentioning

confidence: 99%

Cardiovascular System Sonographic Evaluation Algorithm

León-Luis

Bravo

Gámez

et al. 2015

J of Ultrasound Medicine

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Objectives To evaluate the reproducibility and feasibility of the new cardiovascular system sonographic evaluation algorithm for studying the extended fetal cardiovascular system, including the portal, thymic, and supra‐aortic areas, in the second trimester of pregnancy (19–22 weeks). Methods We performed a cross‐sectional study of pregnant women with healthy fetuses (singleton and twin pregnancies) attending our center from March to August 2011. The extended fetal cardiovascular system was evaluated by following the new algorithm, a sequential acquisition of axial views comprising the following (caudal to cranial): I, portal sinus; II, ductus venosus; III, hepatic veins; IV, 4‐chamber view; V, left ventricular outflow tract; VI, right ventricular outflow tract; VII, 3‐vessel and trachea view; VIII, thy‐box; and IX, subclavian arteries. Interobserver agreement on the feasibility and exploration time was estimated in a subgroup of patients. The feasibility and exploration time were determined for the main cohort. Maternal, fetal, and sonographic factors affecting both features were evaluated. Results Interobserver agreement was excellent for all views except view VIII; the difference in the mean exploration time between observers was 1.5 minutes (95% confidence interval, 0.7–2.1 minutes; P < .05). In 184 fetuses (mean gestational age ± SD, 20 ± 0.6 weeks), the feasibility of all views was close to 99% except view VIII (88.7%). The complete feasibility of the algorithm was 81.5%. The mean exploration time was 5.6 ± 4.2 minutes. Only the occiput anterior fetal position was associated with a lower frequency of visualization and a longer exploration time (P < .05). Conclusions The cardiovascular system sonographic evaluation algorithm is a reproducible and feasible approach for exploration of the extended fetal cardiovascular system in a second‐trimester scan. It can be used to explore these areas in normal and abnormal conditions and provides an integrated image of extended fetal cardiovascular anatomy.

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Aberrant right subclavian artery in Down syndrome fetuses

Abstract: In our study, the ARSA in combination with other ultrasound signs increased the risk for trisomy 21 by factor of 45, but the independent ability of ARSA as an isolated marker to predict fetal Trisomy 21 is unclear.

Cited by 40 publications

References 15 publications

Detection Rate of Trisomy 21 in Fetuses with Isolated and Non-Isolated Aberrant Right Subclavian Artery

Detection Rate of Trisomy 21 in Fetuses with Isolated and Non-Isolated Aberrant Right Subclavian Artery

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery

Cardiovascular System Sonographic Evaluation Algorithm

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