Blood extracellular DNA sequencing-based noninvasive prenatal diagnosis of fetal aneuploidies in a pregnant woman


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Abstract

The review deals with different approaches to noninvasive prenatal diagnosis using a high-performance DNA sequencing method. It gives the basic principles, possibilities, advantages, and disadvantages of both whole-genome and targeted approaches. The results of the papers published in the last 4 years, which determine the sensitivity and specificity of tests and compare the latter with conventional methods, are described. The paper depicts the technical and biological limitations of the technique and discusses whether it is reasonable to use it for diagnosis and screening.

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About the authors

K. S Pantyukh

ZAO "Genoanalytics"; Lomonosov Moscow State University

Email: katya.pantiukh@genoanalytica.ru
Researcher; Ph.D., student, Faculty of Biology

E. S Shubina

Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: jekaterina.shubina@gmail.com
Junior Researcher at the Laboratory of Molecular Genetic Techniques

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