Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

Maya, Idit; Kahana, Sarit; Yeshaya, Josepha; Tenne, Tamar; Yacobson, Shiri; Agmon‐Fishman, Ifaat; Cohen‐Vig, Lital; Levi, Alexander A.; Reinstein, Eyal; Basel‐Vanagaite, Lina; Sharony, Reuven

doi:10.1002/uog.15935

Cited by 39 publications

(46 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results correlate to recently published data by Maya et al, who report no pathogenic CNVs among 36 fetuses with isolated ARSA . However, the incidence of trisomy 21 in fetuses with ARSA and additional finding to be 18.5% (5 of 27)…”

Section: Discussioncontrasting

confidence: 70%

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

et al. 2017

View full text Add to dashboard Cite

show abstract

Section: Discussioncontrasting

confidence: 70%

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

et al. 2017

View full text Add to dashboard Cite

show abstract

“…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%

“…Secondly, chromosomal microarray analysis was not analyzed in our current study. While it worth noting, quite a part of deformity might be neglected without chromosomal microarray analysis according to Maya et al [15]. What's more, the incidence of ARSA in super-aged women ( 40) and its' predictive value for chromosome abnormality were not evaluated individually in our current study.…”

Section: Discussionmentioning

confidence: 94%

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.

show abstract

“…Published studies on genetic testing for AAA have mainly focused on aberrant right subclavian artery (ARSA) and RAA. Their association with trisomy 21 (T21) as well as with 22q11 microdeletion detected by fluorescent in situ hybridization (FISH) has been reported frequently in both prenatal and postnatal settings [6][7][8][9][10][11][12]. Chromosomal microarray analysis (CMA) has become a front-line method for the genetic detection of fetal heart defects, because of its ability to detect both microscopic and submicroscopic chromosomal aberrations.…”

Section: Data Interpretationmentioning

confidence: 99%

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Liu

et al. 2020

Mol Diagn Ther

View full text Add to dashboard Cite

Background Aortic arch abnormalities (AAA) are abnormal embryologic developments of the aorta and its branches. Their outcomes often depend on their association with other congenital diseases and genetic testing results. Objective This study aimed to evaluate the yield of chromosomal microarray analysis (CMA) in fetuses with different patterns of AAA and normal karyotype. Methods Data from 158 pregnancies referred for prenatal CMA testing due to fetal AAA were obtained between April 2016 and April 2019. Fetuses with isolated AAA, AAA accompanied by soft ultrasound markers, and AAA with other ultrasound malformations were classified into groups A, B, and C, respectively. Cases with detectable karyotype aberrations were excluded from the study. Results Twenty cases (12.7%) of submicroscopic anomalies were detected in 158 cases with normal karyotype, comprising 16 cases (10.1%) of clinically significant variants, two cases (1.3%) of variants of unknown significance, and two variants (1.3%) that were likely benign. Microdeletion of 22q11.2 accounted for 25% (4/16) of the clinically significant variants. The overall incremental yields by CMA in group A, group B, and group C were 1.8%, 2.3%, and 24.1%, respectively. Except for double aortic arch, the incremental yield of clinical significant findings for each type of AAA in group C was much higher than that in group A and group B. In group A, a clinically significant variant was only detected in one fetus with right aortic arch (RAA) (1.8%, 1/57). Conclusions In addition to 22q11.2 microdeletion, many other clinically significant submicroscopic variants are present in fetuses with AAA, especially in fetuses with other ultrasound malformations. Although CMA is always recommended in the presence of any malformation in many countries, our results suggest insufficient evidence to recommend CMA in fetuses with isolated AAA, except for isolated RAA.

show abstract

Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

Cited by 39 publications

References 27 publications

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

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

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

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Contact Info

Product

Resources

About