Update in non invasive prenatal testing
Non-invasive prenatal test (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 has 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.