PerkinElmer, a global leader committed to innovating for a healthier world, today announced that PerkinElmer Genomics will begin processing samples with the Vanadis fully automated non-invasive prenatal testing (NIPT) system at its state-of-the-art CLIA and CAP-certified clinical laboratory in Pittsburgh, Pennsylvania and its PerkinElmer Lab Services affiliate laboratory in Kuala Lumpur, Malaysia. In addition to offering full service NIPT testing, these two laboratories will also serve as overflow and demonstration sites for global systems customers

PerkinElmer’s genomic testing platform offers newborn screening along with whole genome and exome sequencing for rare inherited diseases. Through its integrated global network of laboratories in the U.S., India, Malaysia, and China, PerkinElmer’s Lab Services business, including PerkinElmer Genomics, maintains one of the largest databases of known genetic variations from different ancestries around the world.

The Vanadis platform provides results for trisomy 21, trisomy 18 and trisomy 13. Generally, NIPT analyzes cell-free DNA (cfDNA) circulating in the maternal blood and has rapidly become the standard follow-up procedure for women classified as high risk following traditional prenatal screening. Measuring cfDNA from a standard blood draw to detect common chromosomal trisomies has been demonstrated with high sensitivity and specificity.

“We are excited to begin testing samples on the Vanadis system at our clinical laboratories in the U.S. and Malaysia,” said Dr. Madhuri Hegde, Ph.D., FACMG, chief scientific officer, PerkinElmer Genomics. “With the Vanadis solution, we can help clinicians to advance the detection of the three common trisomies earlier in the pregnancy without excluding samples based on fetal fraction.”

PerkinElmer’s Vanadis system received CE-IVD mark for commercialization and distribution throughout Europe and other countries that accept CE marking. The Vanadis system was also recently validated in an external clinical study, titled “Clinical Validation of a Novel Automated Cell-Free DNA (cfDNA) Screening Assay for Trisomy 21, 13 and 18 in Maternal Plasma.” Prenatal Diagnosis published the study on August 19, 2019, underscoring the platform’s high analytical sensitivity and specificity for all three trisomies and low no-call rate.

“Studies continue to underscore the importance of our Vanadis platform as a reliable, cost-effective solution for laboratories and obstetricians to offer aneuploidy screening,” said Masoud Toloue, Ph.D., vice president and general manager, Diagnostics, PerkinElmer. “By eliminating the technical complexity of NIPT, the Vanadis solution can enable more women to access cfDNA screening for common trisomies and help improve prenatal care worldwide.”

The Vanadis solution was validated in an external clinical blinded study conducted in France which analyzed 80 samples from pregnancies affected by trisomy 21 and 670 samples from unaffected pregnancies. PerkinElmer also conducted an independent validation of the Vanadis platform conforming to the CLIA and CAP standards. PerkinElmer is collaborating with Women & Infants Hospital (WIH) of Rhode Island, a Care New England hospital, in a clinical validation study, testing samples from approximately 2,500 women.

Source: Company Press Release