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F1000Res. 2016 Apr 22;5:722. eCollection 2016.

Report on noninvasive prenatal testing: classical and alternative approaches.

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Genoanalytica, CJSC, Moscow, Russian Federation; Faculty of Biology, Moscow State University, Moscow, Russian Federation.
Genoanalytica, CJSC, Moscow, Russian Federation.
Faculty of Physics, Moscow State University, Moscow, Russian Federation.
Research Center of Biotechnology RAS, Moscow, Russian Federation.


Concerns of traditional prenatal aneuploidy testing methods, such as low accuracy of noninvasive and health risks associated with invasive procedures, were overcome with the introduction of novel noninvasive methods based on genetics (NIPT). These were rapidly adopted into clinical practice in many countries after a series of successful trials of various independent submethods. Here we present results of own NIPT trial carried out in Moscow, Russia. 1012 samples were subjected to the method aimed at measuring chromosome coverage by massive parallel sequencing. Two alternative approaches are ascertained: one based on maternal/fetal differential methylation and another based on allelic difference. While the former failed to provide stable results, the latter was found to be promising and worthy of conducting a large-scale trial. One critical point in any NIPT approach is the determination of fetal cell-free DNA fraction, which dictates the reliability of obtained results for a given sample. We show that two different chromosome Y representation measures-by real-time PCR and by whole-genome massive parallel sequencing-are practically interchangeable (r=0.94). We also propose a novel method based on maternal/fetal allelic difference which is applicable in pregnancies with fetuses of either sex. Even in its pilot form it correlates well with chromosome Y coverage estimates (r=0.74) and can be further improved by increasing the number of polymorphisms.


Down syndrome; Edwards syndrome; Patau syndrome; aneuploidy; cell-free DNA; fetal cell-free DNA concentration; noninvasive prenatal testing (NIPT); trisomy

Conflict of interest statement

Genoanalytica, CJSC is a commercial provider of the product which is based on methods described in current paper. All affiliated authors are the employees of said company. Other authors declare no competing interests.

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