Abstract
Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage. Rapid progress of modern high-throughput molecular technologies along with the discovery of cell-free fetal DNA in maternal plasma led to novel screening methods for fetal chromosomal aneuploidies. Such tests are referred to as non-invasive prenatal tests (NIPTs), non-invasive prenatal screening, or prenatal cell-free DNA screening. Owing to many advantages, the adoption of NIPT in routine clinical practice was very rapid and global. As an example, NIPT has recently become a standard screening procedure for all pregnant women in the Netherlands. On the other hand, invasive sampling procedures remain important, especially for their diagnostic value in the confirmation of NIPT-positive findings and the detection of Mendelian disorders. In this review, we focus on current trends in the field of NIPT and discuss their benefits, drawbacks, and consequences in regard to routine diagnostics.
Highlights
Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage
Because the ratio of fetal fraction decreases with increasing maternal weight, maternal obesity has a negative impact on the diagnostic capability of genetic screening; non-invasive prenatal tests (NIPTs) is less likely to provide an informative result in obese patients[20]
Despite some limitations of cell-free fetal DNA (cffDNA) analysis of pregnant women, it seems obvious that NIPT will replace other methods of screening for chromosomal aberrations
Summary
The current trend in prenatal testing can be characterized by a massive move from invasive sampling to using a non-invasive or more precisely less-invasive source in the form of blood. Despite some limitations of cffDNA analysis of pregnant women, it seems obvious that NIPT will replace other methods of screening for chromosomal aberrations. It is important to understand that NIPT does not entirely replace invasive sampling procedures. Positive NIPT findings must be confirmed by diagnostic tests based on an invasive sample source, mainly amniocentesis. This is different in the case of monogenic disorders, where a haplotyping-based approach allows diagnosis without the need for further confirmation. Recent studies show that procedure-associated risks in the case of amniocentesis are very low when it is performed by experienced clinicians. We believe that novel findings and technological progress will transform NIPT from screening to a final diagnostic test. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
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