US-based PerkinElmer has received CE-IVD mark for its Vanadis NIPT system, which enables the firm to commercialise and distribute the product throughout Europe and other countries that recognise CE marking.
This is a non-invasive test that provides screening results for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).
This system has been validated in an external clinical study conducted in France. CerbaXpert played a leading role in this evaluation study.
For the blinded study, 80 samples from pregnancies affected by trisomy 21 and 670 samples from unaffected pregnancies were analysed. It categorised all cases precisely, with only one sample failing to produce a result.
Besides trisomy 21, PerkinElmer carried out clinical studies to indicate high sensitivity and specificity for trisomies 18 and 13.
Vanadis Diagnostics general manager Olle Ericsson said: “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.
“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.”
CerbaXpert project management team Jeremie Gautier said: “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.”
The current NIPT technologies need more complex platforms such as sequencing or microarrays. The Vanadis NIPT platform, on the other hand, is claimed to simplify screening for trisomies 21, 18 and 13. Furthermore, the Y chromosome can be measured as an optional marker.
It measures foetal chromosomal trisomies in maternal plasma by targeted fluorescent labelling and counting specific cfDNA fragments, thereby eliminating the expensive and data-intensive steps required for gene sequencing or microarray solutions.
Currently, PerkinElmer is collaborating with Women & Infants Hospital (WIH) of Rhode Island, a Care New England hospital, for a clinical validation study to analyse an innovative test method using the VanadisNIPT system.
Referred to as VALUE (Validation of a Lower Cost Aneuploidy Screen), the study will involve samples from around 2,500 women being tested.
Most of the women belong to an average risk pregnancy population, with additional high-risk cases added to understand performance characteristics such as detection rates and false positive rates.