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Article

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

by
Asra Almubarak
1,
Dan Zhang
1,
Mackenzie Kosak
1,
Sarah Rathwell
2,
Jasmine Doonanco
3,
Alison J. Eaton
1,3,
Peter Kannu
1,2,3,
Joanna Lazier
4,
Monique Lui
3,
Karen Y. Niederhoffer
1,3,
Melissa J. MacPherson
1,3,
Melissa Sorsdahl
3 and
Oana Caluseriu
1,2,3,*
1
Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada
2
Women’s and Children’s Health Research Institute, University of Alberta, Edmonton, AB T6G 1C9, Canada
3
Maternal Fetal Medicine Clinic, Royal Alexandra Hospital, Edmonton, AB T5H 3V9, Canada
4
Regional Genetics Program, Children’s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada
*
Author to whom correspondence should be addressed.
Genes 2022, 13(11), 2019; https://doi.org/10.3390/genes13112019
Submission received: 1 October 2022 / Revised: 29 October 2022 / Accepted: 31 October 2022 / Published: 3 November 2022
(This article belongs to the Special Issue Novel Insights into Prenatal Genetic Testing)
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Abstract

The introduction of next generation sequencing (NGS) technologies has revolutionized the practice of Medical Genetics, and despite initial reticence in its application to prenatal genetics (PG), it is becoming gradually routine, subject to availability. Guidance for the clinical implementation of NGS in PG, in particular whole exome sequencing (ES), has been provided by several professional societies with multiple clinical studies quoting a wide range of testing yields. ES was introduced in our tertiary care center in 2017; however, its use in relation to prenatally assessed cases has been limited to the postnatal period. In this study, we review our approach to prenatal testing including the use of microarray (CMA), and NGS technology (gene panels, ES) over a period of three years. The overall diagnostic yield was 30.4%, with 43.2% of those diagnoses being obtained through CMA, and the majority by using NGS technology (42% through gene panels and 16.6% by ES testing, respectively). Of these, 43.4% of the diagnoses were obtained during ongoing pregnancies. Seventy percent of the abnormal pregnancies tested went undiagnosed. We are providing a contemporary, one tertiary care center retrospective view of a real-life PG practice in the context of an evolving use of NGS within a Canadian public health care system that may apply to many similar jurisdictions around the world.
Keywords: prenatal; genetic testing; postnatal; chromosomal microarray; gene panel; whole exome sequencing; next generation sequencing; pregnancy prenatal; genetic testing; postnatal; chromosomal microarray; gene panel; whole exome sequencing; next generation sequencing; pregnancy

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MDPI and ACS Style

Almubarak, A.; Zhang, D.; Kosak, M.; Rathwell, S.; Doonanco, J.; Eaton, A.J.; Kannu, P.; Lazier, J.; Lui, M.; Niederhoffer, K.Y.; et al. Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience. Genes 2022, 13, 2019. https://doi.org/10.3390/genes13112019

AMA Style

Almubarak A, Zhang D, Kosak M, Rathwell S, Doonanco J, Eaton AJ, Kannu P, Lazier J, Lui M, Niederhoffer KY, et al. Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience. Genes. 2022; 13(11):2019. https://doi.org/10.3390/genes13112019

Chicago/Turabian Style

Almubarak, Asra, Dan Zhang, Mackenzie Kosak, Sarah Rathwell, Jasmine Doonanco, Alison J. Eaton, Peter Kannu, Joanna Lazier, Monique Lui, Karen Y. Niederhoffer, and et al. 2022. "Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience" Genes 13, no. 11: 2019. https://doi.org/10.3390/genes13112019

APA Style

Almubarak, A., Zhang, D., Kosak, M., Rathwell, S., Doonanco, J., Eaton, A. J., Kannu, P., Lazier, J., Lui, M., Niederhoffer, K. Y., MacPherson, M. J., Sorsdahl, M., & Caluseriu, O. (2022). Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience. Genes, 13(11), 2019. https://doi.org/10.3390/genes13112019

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