Abstract

Expanding the Frontiers of Non-Invasive Prenatal Testing

Sucheta Bhatt, Director of Genetics, Illumina Inc.

Cell-free DNA in maternal circulation is used in clinical practice to screen for common aneuploidies (21,18, 13) and sex chromosome analysis. Test performances and positive and negative predictive values are well established for the same. Over the past few years, the NIPT using cell-free DNA is expanding in terms of addition of more content, specifically expanding to screening for microdeletion, rare chromosome trisomies, and copy number variation. The presentation will give an insight into, methodology, clinical indications, test performances, and clinical utility aspects of the expanded NIPT platforms.