A call for public funding of invasive and non-invasive prenatal testing

Idit Maya; Rivka Sukenik-Halevy; Lina Basel-Salmon; Lena Sagi-Dain

doi:10.1515/jpm-2023-0014

Article

A call for public funding of invasive and non-invasive prenatal testing

Idit Maya , Rivka Sukenik-Halevy , Lina Basel-Salmon and Lena Sagi-Dain

Published/Copyright: May 22, 2023

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From the journal Journal of Perinatal Medicine Volume 51 Issue 8

Abstract

For decades, prenatal screening and genetic testing strategies were limited, requiring less complex decisions. Recently, however, several new advanced technologies were introduced, including chromosomal microarray analysis (CMA) and non-invasive prenatal screening (NIPS), bringing about the need to choose the most appropriate testing for each pregnancy. A worrisome issue is that opposed to the wide implementation and debates over public funding of NIPS, currently invasive testing is still recommended only in selected pregnancies with increased risk for chromosomal aberrations (according to screening tests or sonographic anomalies). This current decision-making regarding public funding for invasive and screening testing might compromise informed consent and patient’s autonomy. In this manuscript, we compare several characteristics of CMA vs. NIPS, namely: the accuracy and the diagnostic scope, the risks for miscarriage and for clinically uncertain findings, the timing for testing, and pretest counselling. We argue that it must be recognized that one size might not fit all, and suggest that both options should be presented to all couples through early genetic counseling, with public funding for the specific selected test.

Keywords: chromosomal microarray analysis; non-invasive prenatal screening; prenatal diagnosis; prenatal screening

Corresponding author: Lena Sagi-Dain, M.D., Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Genetics Institute, Technion – Israel Institute of Technology, 7 Michal St., Haifa, Israel, Phone: +972 506265842, Fax: +972 48844888, E-mail: lena2303@gmail.com

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no competing of interest.
Informed consent: Not applicable.
Ethical approval: Not applicable.

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Received: 2023-01-11

Accepted: 2023-05-03

Published Online: 2023-05-22

Published in Print: 2023-10-26

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Articles in the same Issue

https://doi.org/10.1515/jpm-2023-0014

Keywords for this article

chromosomal microarray analysis; non-invasive prenatal screening; prenatal diagnosis; prenatal screening