Update in non-invasive prenatal testing.

Abstract

Non-invasive prenatal testing (NIPT) has revolutionized the approach to prenatal diagnosis and, to date, it is the most superior screening method for the common autosomal aneuploidies, mostly trisomy 21. This screening is having a significant population-wide impact on the uptake of conventional screening and diagnostic testing. In recent years, emerging genomic technologies, largely based around next generation sequencing, have expanded the analyses to the sub-chromosomal aneuploidies. However, further clinical validation studies are needed to better characterize this technology. These tests bring advantage through providing a higher diagnostic yield, without risks of miscarriage than previously available diagnostic test, but also raise the question of harms related to an increase in uncertain and unknown results. In view of the revolution brought about by the NIPT, numerous scientific societies have published recommendations regarding the appropriate application of cell-free DNA screening in pregnancy. In this review, we discuss the progress that has been made to date in NIPT.