PerkinElmer, Women & Infants Hospital of Rhode Island to Test NIPT System

PerkinElmer said recently that it is collaborating with Women & Infants Hospital (WIH) of Rhode Island toevaluate the performance of its Vanadis noninvasive prenatal testing system.

The technology, which PerkinElmer acquired in 2016 when itbought Vanadis Diagnostics, screens fortrisomies 21, 18, and 13. Butunlike existing NIPT technologies which require platforms such as sequencing ormicroarrays, the Vanadis platform measures fetal chromosomal trisomies inmaternal plasma by labeling and counting specific cfDNA fragments usingimaging. Vanadis is currently under development and not available forclinical use in the US, PerkinElmer said.

The study with WIH — whichthe company first disclosed in March —is called VALUE (Validation of a Lower Cost Aneuploidy Screen). It aims to test samples fromapproximately 2,650 women, most from an average risk pregnancy population, withadditional high-risk cases added. The researchers arelooking to determine how the Vanadis platform performs in terms of detectionand false positive rates, turnaround time, associated costs, fetal sex determination,and quality metrics.

The study is being funded by PerkinElmer with an undisclosedamount, but WIH staff will be in charge of the design, implementation,analyses, and reporting. The hospital will serve as the primary study center andlaboratory site. Fourteen enrollment sites acrossNorth America are currently participating in the study.

"All pregnant women should have access to reliable, low-costNIPT as a follow-up to aneuploidy screening, but this has not previously beenpossible, as the current approaches are complex, havelimited capacity and require the expertise of specialized genetic laboratories," Linh Hoang, vice president of reproductive health at PerkinElmer, said in a statement." By incorporating novel technology and analytics, the Vanadis assay has the potential to fundamentally change the cost structure andworkflow for NIPT and give more women access to cf DNA screening.  Our solution is designed to make it simpler for anylaboratory to provide high-precision NIPT with a fully automated platform that they can integrate into their current screening programs and workflow."