PerkinElmer launch a trial to evaluate performance characteristics for high-volume NIPT platform

PerkinElmer, Inc., has entered into a collaboration with Women and Infants Hospital (WIH) of Rhode Island, a Care New England hospital, to evaluate an innovative test method using the Vanadis NIPT system. PerkinElmer’s Vanadis NIPT system is under development and not available for clinical use in the United States of America. Unlike existing non-invasive prenatal testing (NIPT) technologies which require more complex platforms such as sequencing or microarrays, the Vanadis NIPT platform is the first of its kind designed to simplify screening for trisomies 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome). This cost-effective, high-throughput scalable platform measures fetal chromosomal trisomies in maternal plasma by labeling and counting specific cfDNA fragments using imaging – removing the costly and data-intensive steps required for sequencing or microarray solutions.

The VALUE (validation of a lower cost aneuploidy screen) study is funded through a contract with WIH, but the design, implementation, analyses, and reporting are the sole responsibility of the study staff at Women and Infants. The research study aims to test samples from approximately 2650 women, most from an average risk pregnancy population, with additional high-risk cases added to determine performance characteristics such as detection rates and false positive rates. Turnaround time, associated costs, fetal sex determination, and quality metrics will also be examined.

Women and Infants will serve as the primary study center and laboratory site. Fourteen enrollment sites across North America are currently participating in the VALUE study. By incorporating novel technology and analytics, the Vanadis assay has the potential to fundamentally change the cost structure and workflow for NIPT and give more women access to cfDNA screening. The solution is designed to make it simpler for any laboratory to provide high-precision NIPT with a fully automated platform that they can integrate into their current screening programs and workflow.