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CC BY 4.0 · Glob Med Genet 2022; 09(02): 072-075
DOI: 10.1055/s-0042-1743573
Review Article

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing

Lizzy Teleboshe Paul
1   Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Mahmut Cerkez Ergoren 
2   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
3   DESAM Research Institute, Near East University, Nicosia, Cyprus
› Institutsangaben Funding None.
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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.

Keywords

prenatal testing - fetal DNA fraction - noninvasive prenatal testing


Publikationsverlauf

Eingereicht: 16. November 2021

Angenommen: 29. Dezember 2021

Artikel online veröffentlicht:
25. Februar 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
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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