DOI: 10.24075/brsmu.2019.036


Noninvasive prenatal testing: the aspects of its introduction into clinical practice

About authors

1 Pirogov Russian National Research Medical University, Moscow, Russia

2 Genotek Ltd., Moscow, Russia

Correspondence should be addressed: Dmitry O. Korostin
Nastavnichesky per. 17, str. 1, Moscow, 105120; moc.liamg@nitsorok.d

About paper

Acknowledgment: the authors are grateful for Ekaterina Shubina of Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology for her valuable feedback.

Author contribution: Korostin DO conceived the review and supervised manuscript preparation; Plakhina DA wrote the sections about cell-free DNA and the regulatory legislation and helped to revise the manuscript; Belova VA wrote the sections about MPS-aided NIPT and the regulatory legislation and helped to revise the manuscript.

Received: 2018-10-05 Accepted: 2019-05-10 Published online: 22.05.2019

The last couple of years have witnessed the rapid development of prenatal molecular-based screening for fetal aneuploidies that utilizes the analysis of cell-free DNA circulating in the bloodstream of a pregnant woman. The present review looks at the potential and limitations of such testing and the possible causes of false-positive and false-negative results. The review also describes the underlying principles of data acquisition and analysis the testing involves. In addition, we talk about the opinions held by the expert community and some aspects of legislation on the use of noninvasive prenatal testing (NIPT) in clinical practice in the countries where NIPT is much more widespread than in Russia.

Keywords: cell-free DNA, prenatal screening, NIPT, NIPS, fetal aneuploidy