Non-invasive prenatal testing - a new method in improving first trimester screening for chromosome-related abnormalities

S. Vasilescu, O. Munteanu, G. Radu, D. Voicu, M. Dumitrascu, P. Vartej, R. Bohiltea, S. Vladareanu, M. Cirstoiu

Abstract: In the last 15 years, major advances have been made in prenatal screening. Cohort studies have led to an understanding of the causes of many common diseases that are determined by the combined effects of genetic and phenotypic factors. Non-invasive prenatal testing (NIPT) is a technology used to isolate deoxyribonucleic acid (DNA) placental fragments from the mother’s blood at as early as 10 weeks of gestation, using cell free fetal DNA technology. NIPT screens for trisomy 13,18 and 21 for sex chromosome abnormalities with a high detection rate. Cohort studies have shown a high detection rate and a low false positive rate for NIPT, but it is still considered a screening test and not diagnostic. It is recommended confirmation in case of a positive test, with a diagnostic procedure as chorionic villus sampling or amniocentesis. It is essential that NIPT be used ethically and effectively. Because of its high sensitivity (true positive rate) and its specificity (true negative rate) many recommend that NIPT should be used as a diagnostic method. However, today NIPT is used as a screening method, an attractive alternative to the serum screens and invasive test currently in use. There is a continuing decline in sequencing costs and hopefully, soon, the cost will be reduced.
DOI:10.18643/gieu.2016.146

Keywords: NIPT, Down syndrome, chromosome abnormalities.