Association of aberrant right subclavian artery with abnormal karyotype and microarray results

Svirsky, Ran; Reches, Adi; Brabbing-Goldstein, Dana; Bar‐Shira, Anat; Yaron, Yuval

doi:10.1002/pd.5092

Cited by 24 publications

(34 citation statements)

References 27 publications

(39 reference statements)

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“…As in our study, the likelihood ratios of combined ARSA for chromosomal abnormalities in the entire population AMA and non-AMA group were as high as respectively 69.76, 246.00 and 97.82. The study performed by Svirsky et al [16] was in support of our results. They claimed ARSA with additional ultrasound ndings constitutes a strong predictor for aneuploidy.…”

Section: Discussionsupporting

confidence: 92%

“…The association between ARSA fetuses and chromosomal abnormalities such as Down syndrome was described by some scholars [12,16,17]. Reported by Paladini et al [15], ARSA should be considered among the three most powerful ultrasound indicators of Down syndrome in the second trimester resembling nasal bone abnormality and increased nuchal fold.…”

Section: Discussionmentioning

confidence: 96%

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Predictive value of aberrant right subclavian artery for fetal Chromosome aneuploidy in women of advanced maternal age

Chen

Zhong

You

et al. 2020

Preprint

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Background: In entire population, aberrant right subclavian artery ( ARSA) was in closely association with chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased with the maternal age exponentially. This situation in advanced maternal age ( AMA )group is uncertain. This study aimed to establish the incidence of ARSA in Chinese AMA and non-AMA women and to determine the frequency of aneuploidy among AMA and non-AMA women with ARSA.Methods: The retrospective study included 13,690 singleton pregnancies which were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening and fetal karyotype analysis were analyzed.Results: 1. The overall incidence of ARSA was 0.69 % with no difference in both age groups. 2. The incidence rate of chromosomal abnormalities in AMA group ( 37 / 2,860 ) was much higher than that in non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. 3. With combined ARSA detected in AMA ones, the lilelihood of the incidence of chromosomal abnormalities increased. 4. Additionally, a case with chimeric ( 45X / 46XX ) was found with isolated ARSA in AMA pregnancy.Conclusion: There is a high prevalence of chromosomal abnormalities in AMA fetuses. ARSA would increase the risk of chromosomal abnormalities in both age groups, especially combined ARSA. Moreover, when combined ARSA is found in AMA ones, it confers a high likelihood of chromosomal abnormalities.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 96%

Predictive value of aberrant right subclavian artery for fetal Chromosome aneuploidy in women of advanced maternal age

Chen

Zhong

You

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…As in our study, the positive likelihood ratios of nonisolated ARSA for chromosomal abnormalities in the entire population and AMA group were as high as respectively 69.49 and 36.90. The study performed by Svirsky et al [14] was in support of our results. They claimed ARSA with additional ultrasound findings constitutes a strong predictor for aneuploidy.…”

Section: Discussionsupporting

confidence: 92%

“…However, due to the high omission diagnostic rate during the first trimester and the early mid-trimester, and in order to reduce the bias caused by the difference in technical level between examiners and ensure the accuracy, we set the threshold of 16 weeks of gestation for this study. The correlation between ARSA fetuses and chromosomal abnormalities such as Down syndrome was described by some scholars [10,14,15]. As we found whether isolated or nonisolated ARSA would increase the risk of chromosomal abnormalities.…”

Section: Discussionsupporting

confidence: 60%

Predictive value of aberrant right subclavian artery for fetal chromosomal in women of advanced maternal age

You

Chen

Zhong

et al. 2019

Preprint

View full text Add to dashboard Cite

Background: In entire population, aberrant right subclavian artery ( ARSA ) was in closely association with chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased with the maternal age exponentially. While, the situation in advanced maternal age ( AMA ) group is uncertain. This study aimed to establish the incidence of ARSA in Chinese AMA and non-AMA women and to determine the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods: The retrospective study included 13,690 singleton pregnancies which were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening and fetal karyotype analysis were analyzed. Results: 1. The overall incidence of ARSA was 0.69 % with no difference in both groups. 2. The prevalence rate of chromosomal abnormalities in AMA group ( 37 / 2,860 ) was much higher than that in non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. 3. With ARSA detected, the incidence increased to 20.00 % and 10.00 % in AMA and non-AMA cases, respectively. 4. Additionally, a case with chimeric Turner syndrome ( 45X / 46XX ) was found with isolated ARSA in AMA pregnancy. Conclusion: There is a high prevalence of chromosomal abnormalities in AMA fetuses. Both isolated and nonisolated ARSA would increase the risk of chromosomal abnormalities. Moreover, when ARSA is found in AMA ones, it confers a sharp increase in the incidence of chromosomal abnormalities.

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“…The prenatal detection of an ARSA is of importance because of its association with Down syndrome and a variety of other genetic syndromes, especially when non-isolated [ 1 , 2 , 3 , 5 , 6 , 7 , 8 , 9 , 18 , 19 , 20 , 21 , 22 , 23 ]. Furthermore, ARSA itself can occasionally cause aggravating symptoms due to compression of the esophagus and trachea [ 11 , 12 , 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

The “No ARSA” Sign: A Novel Method of Prenatal Screening for Aberrant Right Subclavian Artery

Kassif

Tsur

Shust-Barequet

et al. 2020

JCM

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An aberrant right subclavian artery (ARSA) can be overlooked by the conventional method as described by Chaoui et al., due to acoustic shadowing. The aim of this study was to evaluate the feasibility and accuracy of a novel screening method for ARSA by demonstrating the brachiocephalic artery bifurcation, referred to as the “No ARSA” sign. A prospective study conducted at a tertiary care center between 2018 and 2019 included unselected pregnant patients at a median gestational age of 15.1 (14.2–22.1; IQR (inter-quartile range)) weeks, who had been referred for a routine or targeted anomaly scan. All participants were scanned for the presence or absence of ARSA using both the conventional and the novel “No ARSA” methods for validation purposes. A total of 226 unselected patients were enrolled in the study. The “No ARSA” sign was visualized in 218 fetuses (96.5%). In the remaining 8 cases (3.5%), the “No ARSA” sign was not demonstrated. In these fetuses, an ARSA was visualized by the conventional method. The new method exhibited 100% feasibility and was in complete agreement with the conventional method. Intra- and inter-observer agreement was excellent (κ = 1). The results of the study suggest that the “No ARSA” sign is an efficient and reliable screening tool for ARSA.

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Association of aberrant right subclavian artery with abnormal karyotype and microarray results

Abstract: Aberrant right subclavian artery with additional ultrasound findings constitute a strong predictor for aneuploidy. However, when ARSA is found in isolation, it confers no increased risk for aneuploidy or pathogenic CNVs. © 2017 John Wiley & Sons, Ltd.

Cited by 24 publications

References 27 publications

Predictive value of aberrant right subclavian artery for fetal Chromosome aneuploidy in women of advanced maternal age

Predictive value of aberrant right subclavian artery for fetal Chromosome aneuploidy in women of advanced maternal age

Predictive value of aberrant right subclavian artery for fetal chromosomal in women of advanced maternal age

The “No ARSA” Sign: A Novel Method of Prenatal Screening for Aberrant Right Subclavian Artery

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