Vanadis®, a fully automated non-invasive prenatal testing (NIPT) system has been 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.” The study was published by Prenatal Diagnosis on August 19.
Maternal plasma samples from 1,200 singleton pregnancies, which included 158 fetal aneuploidies, were analyzed using the Vanadis NIPT system’s non-sequencing cfDNA method. It found that the new cfDNA assay has high sensitivity and specificity for trisomies 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome), and accurately determines fetal sex while maintaining a low failure rate.
The study demonstrated that cfDNA testing with the highly automated Vanadis NIPT system does not require specialized personnel for screening. The Vanadis system is also designed to help reduce cost and allow wider population-based screening.
“We continue to be encouraged by clinical studies that further validate 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. “Our Vanadis platform eliminates the technical complexity of NIPT, giving more women access to cfDNA screening for common trisomies and further improving prenatal care on a global scale.”
PerkinElmer’s Vanadis NIPT system, which received CE-IVD mark for commercialization and distribution throughout Europe and other countries that accept CE marking, had previously been validated in a separate external clinical study conducted in France. The blinded study analyzed 80 samples from pregnancies affected by trisomy 21 and 670 samples from unaffected pregnancies, classifying all cases correctly, with only one sample failing to generate a result. PerkinElmer conducted clinical studies to demonstrate high sensitivity and specificity for trisomies 18 and 13, as well.
In the U.S., 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.* Most samples are from an average risk pregnancy population, with additional high-risk cases added to determine performance characteristics such as detection rates and false-positive rates.