Taylor J. Jensen, Tricia Zwiefelhofer, Roger C. Tim, Željko Džakula, Sung K. Kim, Amin R. Mazloom, Zhanyang Zhu, John Tynan, Tim Lu, Graham McLennan, Glenn E. Palomaki, Jacob A. Canick, Paul Oeth, Cosmin Deciu, Dirk van den Boom, Mathias Ehrich

Circulating cell-free (ccf) fetal DNA comprises 3-20% of all the cell-free DNA present in maternal plasma. Numerous research and clinical studies have described the analysis of ccf DNA using next generation sequencing for the detection of fetal aneuploidies with high sensitivity and specificity. We sought to extend the utility of this approach by assessing semi-automated library preparation, higher sample multiplexing during sequencing, and improved bioinformatic tools to enable a higher throughput, more efficient assay while maintaining or improving clinical performance.