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DOI: 10.1055/s-0042-1743573
Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing
Funding None.
Abstract
Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of invasive prenatal diagnostic approaches. However, to facilitate prenatal testing without causing any danger to the fetus, the noninvasive prenatal diagnostic method, which uses circulating cell-free deoxyribonucleic acid (DNA), has become a suitable method of prenatal diagnosis. This review discusses the recent bioinformatics approaches used for analyzing fetal DNA concentration.
Publication History
Received: 16 November 2021
Accepted: 29 December 2021
Article published online:
25 February 2022
© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Georg Thieme Verlag KG
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