Targeted Non-invasive prenatal testing of T21, T18, and T13: performance assessment and feasibility of implementation in Piedmont NHS

Prenatal screening of fetal aneuploidies based on the analysis of cell-free fetal DNA, extracted from maternal blood, is a new high-performance test which can be implemented in the clinical practice of the public healthcare system. The Non-Invasive Prenatal Testing has shown a high detection rate for T21, T18 and T13 with a low false-positive rate in comparison with the traditional prenatal serum screening tests – Combined first-trimester test and Integrated test; moreover, this prenatal screening approach allows to eliminate the miscarriage risk associated with invasive diagnostic procedures. The advent of this technology has opened a debate on the most appropriate method for its implementation in the prenatal screening programs. In the present study, a total of 854 blood samples from high-risk pregnant women were collected and analyzed through Vanadis NIPT instruments making possible an assessment of all the genetic results, biochemical prenatal tests and NIPT results. Comparing these data together with a cost-effectiveness analysis, it results that the contingent strategy for NIPT seems to be the most suitable. The aim of this study is the assessment of the Vanadis NIPT performance for screening of fetal trisomies 21, 18 and 13 and the evaluation of its feasibility of implementation in the healthcare system.