PerkinElmer announced its Vanadis NIPT system has obtained CE-IVD mark for commercialization and distribution throughout Europe and other countries that accept CE marking. This non-invasive test provides screening results for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The Vanadis NIPT system has been validated in an 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. In addition to trisomy 21, PerkinElmer conducted clinical studies to demonstrate high sensitivity and specificity for trisomies 18 and 13.
Non-invasive prenatal testing (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.
“NIPT has been previously limited by the complexity, cost and capacity of existing commercially available technologies, which prevented many laboratories and obstetricians from offering reliable, and cost-effective solutions for aneuploidy screening,” said Olle Ericsson, General Manager at Vanadis Diagnostics, a PerkinElmer company. “With our Vanadis platform, we are taking the technical complexity out of NIPT while breaking down the cost barriers. This will enable more women to gain access to NIPT and improve the level of prenatal care on a global level.”
“The promising results we’ve seen lead us to believe that a broad range of women throughout Europe and around the world now stand to benefit significantly from being able to have NIPT as a key component of prenatal care,” said Jérémie Gautier, head of the project management team at CerbaXpert, which played a leading role in the evaluation study in France.
“The Vanadis technology has the potential to bring cfDNA screening for common trisomies to the general pregnancy population who cannot readily access NIPT at this time due to the high cost of available tests,” said Glenn Palomaki, PhD, Associate Director of the Division of Medical Screening and Special Testing at WIH, and Professor, Department of Pathology and Laboratory Medicine at the Warren Alpert Medical School of Brown University. “This platform has the potential to be as efficient as current next generation sequencing offerings—yet could be cost-competitive with current first trimester combined screening.”