Prenatal genetic testing through NIPT - screening method in high risk pregnancies for fetal malformations

V. Tudor, O. Velicu, M. Mitran, S. Vlădăreanu, A. Filipescu, E. Brătilă, E. Severin

Rezumat: The field of non-invasive prenatal screening and diagnosis appears to be revolutionized by the introduction of cell free fetal DNA-based tests conducted on blood samples collected from pregnant women. Accompanied by the public release of this new method of prenatal screening, 2011-2016 period brought about a variety of studies, concerned with the evaluation of technologies used - singular nucleotide polymorphism and massive genomic parallel sequencing, with the sole purpose of increasing its specificity and sensitivity. The importance of reviewing the latest studies conducted on non-invasive prenatal testing is enforced by the need of a standardized protocol for the application of the method in the safest way possible. This paper is a review of articles published worldwide during 2012-2016, obtained after an extensive search of databases such as PubMed, UpToDate, The Cochrane Library, Springer Link.
Cuvinte cheie: non-invasive prenatal testing, cell free fetal DNA, prenatal screening.