Non-invasive prenatal screening tests – update 2022

Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development has expanded to other genetic conditions such sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplications, structural chromosomal aberrations monogenic diseases. Meanwhile, commercial providers are offering a number of different tests, with variable performance, application which needs be carefully evaluated apply true clinical practice. In our review we present NIPT methodologies discuss main strengths limitations in context providing responsible pregnancy management.