Non invasive prenatal testing (NIPT) for common aneuploidies and beyond

Abstract

Non invasive prenatal Testing (NIPT) is changing the practice of prenatal diagnosis worldwide. It provides high sensitivity and specificity in screening for common aneuploidies. As a result, it has reduced the number of invasive procedures, thereby reducing their associated risk of pregnancy miscarriage. NIPT is based on the detection and analysis of cell free fetal DNA (cffDNA) that is obtained from a maternal peripheral blood sample. Advanced laboratory detection and purification technology has improved the performance of NIPT and allowed the introduction of new applications in recent years. The introduction of Next Generation Sequencing (NGS) into clinical practice has rendered NIPT to have high sensitivity in the screening of aneuploidy. It has also allowed detecting and investigating the fetal genome from maternal plasma. Fetal Whole Exome Sequencing (WES) provides non invasive prenatal diagnosis of inherited monogenic disorders and can also offer a diagnosis of an underlying cause of fetal anomalies that have a normal karyotype. The following will review the current and potential future applications of NIPT and discuss the advantages and disadvantages of the various NIPT techniques. The role of public healthcare system plays in the provision of the test, and the psychological impact of NIPT on the end-users will also be highlighted.

Keywords: Cell free fetal DNA (cffDNA); Clinical application of Non invasive prenatal testing (NIPT); Fetal chromosomal abnormalities; Fetal genetic abnormalities; NIPT in various healthcare systems; Next generation sequencing (NGS); Non invasive prenatal testing (NIPT); Non invasive prenatal testing (NIPT) laboratory technologies; Psychological impact of Non invasive prenatal testing (NIPT); Whole exome sequencing (WES).