Non-invasive prenatal screening tests – update 2022

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 the screening has expanded to other genetic conditions such as sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplications, structural chromosomal aberrations and monogenic diseases. Meanwhile, commercial providers are offering a number of different tests, with variable performance, the application of which needs to be carefully evaluated to apply to the true needs of clinical practice. In our review we present the different NIPT methodologies and discuss the main strengths and limitations in the context of providing a responsible pregnancy management.