Performance capabilities of prenatal diagnosis of chromosomal anomalies: what changed with the introduction of non-invasive prenatal test (NIPT)?

This review systematizes scientific data on the possibilities and limitations of combined prenatal screening for detecting common chromosomal abnormalities (CA) in first trimester pregnancy, as well an innovative technology – non-invasive test (NIPT) based free fetal DNA fraction. A current clinical guidelines place NIPT models screening, experience various countries implementation national programs CA was carried out. Also, a synthesis evidence expert opinions controversial issues feasibility using extended options (beyond identification aneuploidies trisomy 21, 13, 18) out, techniques out.Despite general increase sensitivity due to combination clinical, biochemical ultrasound indicators, its main disadvantage is insufficient specificity (the frequency false positive results 5%). One ways effectiveness study fraction (NIPT). According 2017 meta-analysis, more than 99% 98% 18, 13 with 99%. high efficacy has been confirmed subsequent studies, making best most trisomies Down syndrome (trisomy 21), Edwards Patau 13). can be used line or second after screening.Since 2015, included international professional societies. Common 11 reviewed documents recognition important tool increasing efficiency detection CA, information about which should provided all pregnant women.In order woman receive maximum benefit from NIPT, pre- post-test counseling explanation method given situation crucial.