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Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature

Journal of Perinatology volume 38, pages 468–473 (2018)Cite this article

Subjects

Abstract

Objective:

To examine the risk for clinically significant chromosomal microarray analysis (CMA) findings in fetal right aortic arch (RAA).

Methods:

Data from all CMA analyses performed owing to isolated RAA reported to the Israeli Ministry of Health between January 2013 and September 2016 were evaluated retrospectively. Risk for abnormal CMA findings was compared with two control populations, based on both previously described 9272 pregnancies with normal ultrasound, and on a local cohort of 5541 pregnancies undergoing CMA testing owing to maternal request. In addition, Pubmed database search was conducted for original researches examining this issue.

Results:

Of 94 CMA analyses performed owing to isolated RAA, six (6.4%) pathogenic findings were detected (47,XX + 21; 45,X; two 22q11.2 microdeletions; 10p15.3 microdeletion and 16p11.2 duplication). Compared with control groups, an isolated RAA yielded a significantly increased relative risk for abnormal CMA results. Literature search yielded two additional retrospective studies describing microarray testing in RAA and encompassing 57 cases. The overall risk for clinically significant CMA findings was 6.62% (10/151).

Conclusions:

CMA testing is indicated in cases of prenatal isolated RAA, even in the era of advanced sonographic equipment, routine biochemical screening for Down syndrome and available non-invasive prenatal testing.

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Acknowledgements

We are thankful to all the genetic counselors and laboratory personnel who made this data acquisition possible.

Author information

Authors and Affiliations

  1. Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel

    Idit Maya

  2. Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel

    Amihood Singer

  3. The Genetics Institute, Rambam Health Care Campus, and the Technion – Israel Institute of Technology, Haifa, Israel

    Hagit N Baris

  4. Hadassah-Hebrew University Medical Center, Jerusalem, Israel

    Yael Goldberg

  5. Genetics Institute, Bnai Zion Medical Center, Haifa, Israel

    Adel Shalata

  6. Institute of Human Genetics, Haemek Medical Center, Afula, Israel

    Morad Khayat

  7. Genetic Institute, Tel Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Shay Ben-Shachar

  8. Genetics Institute, Carmel Medical Center, Haifa, Israel

    Lena Sagi-Dain

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  1. Idit Maya
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Correspondence to Lena Sagi-Dain.

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The authors declare that they have no conflict of interest.

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Maya, I., Singer, A., Baris, H. et al. Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature. J Perinatol 38, 468–473 (2018). https://doi.org/10.1038/s41372-018-0062-6

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  • DOI: https://doi.org/10.1038/s41372-018-0062-6

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