Fetal Aberrant Right Subclavian Artery (ARSA) – a Potential New Soft Marker in the Genetic Scan?

Willruth, A.; Dwinger, N.; Ritgen, J; Stressig, R.; Geipel, A.; Gembruch, Ulrich; Berg, C. van den

doi:10.1055/s-0029-1245935

Cited by 35 publications

(57 citation statements)

References 15 publications

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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%

“…Prenatal ultrasound studies have reported the incidence of ARSA to be 7.8-37.5% in fetuses with Down syndrome as opposed to 0.6-1.5% in chromosomally normal fetuses [4,5,6,7]. Furthermore, the positive and negative likelihood ratio for Down syndrome in fetuses with ARSA has been reported to be 21.48 and 0.71, respectively, in a recent meta-analysis [8].…”

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%

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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“…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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“…Além disso, sua existência está associada a cromossomopatias, nomeadamente trissomia do 21, e/ou malformações cardíacas 4 . Vários estudos de diagnóstico pré-natal recentes estimam que a incidência de ARSA varie entre 7,8-37,5% nos fetos com trissomia do 21 e 0,6-1,5% nos fetos cromossomicamente normais [5][6][7][8][9][10][11][12][13] . O diagnóstico pós-natal de ARSA em ecocardiografia de rotina não é fácil, dificultando o cálculo da sua incidência, quer na população normal, quer nos indivíduos com cromossomopatia e/ou malformações cardíacas 8 .…”

Section: Introductionunclassified

Avaliação da artéria subclávia direita na ecografia do primeiro trimestre

Verde¹,

Braga²,

Gonçalves³

et al. 2015

Rev. Bras. Ginecol. Obstet.

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Resumo OBJETIVO: Avaliar a artéria subclávia direita durante a ecografia do primeiro trimestre, descrever a técnica para a sua avaliação e, em caso de identificação de artéria subclávia direita aberrante (ARSA), determinar sua associação com alterações cromossómicas e/ou malformações cardíacas e sua orientação. MÉTODOS: Estudo prospectivo que consistiu na avaliação da artéria subclávia direita no primeiro trimestre (comprimento crânio caudal entre 45 e 84 milímetros), em todas as gestações únicas, consecutivas, por um único examinador, ecógrafo Voluson E8 (GE Healthcare, Zipf, Áustria) com sonda transabdominal RAB 4-8-D, 2 a 8 MHz, por um período não superior a 2 minutos, numa população geral de baixo risco. Com a ajuda do power/color Doppler, a artéria subclávia direita foi classificada como normal ou aberrante. Foi utilizada análise de regressão estatística (IBM SPSS Statistics for Windows, versão 20.0) para estudar o grau de associação entre a falha na avaliação/ classificação da artéria subclávia direita e o comprimento crânio-caudal fetal e o índice de massa corporal materno. RESULTADOS: A mediana da idade materna foi de 30 anos (variando entre 17 e 43 anos) e a mediana do tempo de gestação no momento da avaliação da artéria subclávia direita foi de 12 semanas de gestação (variando entre 11 e 13 semanas de gestação). A avaliação da artéria subclávia direita foi possível em 138/176 (78,4%) dos casos. ARSA foi diagnosticada em um único caso (0,7%). Esse feto com ARSA também apresentou um foco hiperecogênico no ventrículo cardíaco esquerdo. Foi realizada ecocardiografia fetal às 16 semanas de gestação, que confirmou o diagnóstico de ARSA e foco hiperecogênico. A amniocentese revelou cariótipo normal, 46, XX. CONCLUSÃO: É possível fazer o diagnóstico de ARSA na ecografia do primeiro trimestre. O nosso único caso de ARSA apresentou um cariótipo normal sem malformações cardíacas associadas. Abstract PURPOSE:To determine the feasibility of evaluation of the right subclavian artery during the first trimester ultrasound scan, as well as to describe the technique for its evaluation and, in case of aberrant right subclavian artery (ARSA) identification, to determine its association with chromosomal abnormalities and/or cardiac malformations and its management. METHODS: A prospective study for evaluation of the right subclavian artery during the first trimester ultrasound scan (crownto-rump length between 45 and 84 mm), in all consecutive single pregnancies, by a single examiner, using a Voluson E8 system (GE Healthcare, Zipf, Austria) with a 2 to 8 MHz RAB 4-8-D transabdominal probe, within a short period of time (less than 2 minutes), in a general low risk population. Color and/or power Doppler flow mapping was used to classify the right subclavian artery as normal or aberrant. Regression analysis with the IBM SPSS Statistics software for Windows, version 20.0 was used to determine the significance of the association between failure to examine/classify the right subclavian artery and both fetal crown-rump length and ...

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Fetal Aberrant Right Subclavian Artery (ARSA) – a Potential New Soft Marker in the Genetic Scan?

Cited by 35 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

Cardiovascular System Sonographic Evaluation Algorithm

Avaliação da artéria subclávia direita na ecografia do primeiro trimestre

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