Noninvasive prenatal testing of chromosomal aneuploidies

Abstract:

Noninvasive prenatal testing (NIPT) of chromosomal aneuploidies which analyzes cell-free DNA from maternal blood represents a great improvement in prenatal care. Clinical studies showed high accuracy of NIPT for both Down and Edwards syndromes, and to a lesser extent for Patau syndrome. Compared to existing non-invasive screening tests for chromosomopathies, in terms of specificity and sensitivity, NIPT is far more reliable. Compared to invasive tests (rACZ, CVS), this type of testing does not put mother and fetus at risk. Although NIPT has been commercially available for more than 2 years, it is still the subject of intense clinical research in specific subgroups of women and its final role in prenatal care is being reviewed. Considering present results, it is unquestionable that NIPT will revolutionize noninvasive prenatal care, and through highly accurate selection of high risk pregnancies it will dramatically reduce the need for invasive procedures. 

Key words:
chromosomopathies; free fetal DNA; non-invasive prenatal testing; next generation sequencing