Abstract
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.
Highlights
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
noninvasive prenatal testing (NIPT) is mostly used to screen for chromosomal aneuploidies, but massively parallel sequencing (MPS) technologies are capable of detecting other genome abnormalities as well
Because NIPT analyzes total cell-free DNA and in the majority of cases cannot detect the presence of additional haplotypes in the samples, a vanishing twin can contribute to false-positive test results, being an aneuploid fetus itself; it can mask the aneuploidy of the second twin, causing false-negative results and interfering with sex determination
Summary
NONINVASIVE PRENATAL TESTING: THE ASPECTS OF ITS INTRODUCTION INTO CLINICAL PRACTICE. 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. Рассмотрены мнения профессиональных сообществ, а также особенности законодательного регулирования применения неинвазивного пренатального скрининга (НИПС) в клинической практике в странах, где уровень использования НИПС существенно превышает отечественный. Cell-free DNA molecules circulating in the maternal blood are chopped fragments of 166 bp (maternal cfDNA) or 143 bp (fetal cfDNA) in length [19] Such size distribution is the result of nonrandom DNA fragmentation [20]. It has been established that hypo- and hypermethylated regions of fetal and placental genomes do not match those of the maternal genome because of epigenetic difference between tissues [23, 24] It is hypothesized [25] that unmethylated DNA regions are more accessible for cutting. Maternal cfDNA is hypermethylated, which means tighter DNA wrapping around histones, increased compaction and nucleosome stability, and longer average cfDNA fragment lengths in comparison with fetal DNA
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