Screening system for prenatal testing for genetic disorders gets CE-IVD mark

A screening system which provides pregnant women access to prenatal testing for genetic disorders has obtained its CE-IVD mark.

PerkinElmer’s Vanadis non-invasive prenatal testing (NIPT) system can now be commercialised and distributed throughout Europe and other countries that accept CE marking. This test provides screening results for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome).

The system has been validated in an external clinical study conducted in France. The blinded study analysed 80 samples from pregnancies affected by trisomy 21 and 670 samples from unaffected pregnancies, classifying all cases, 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.

It is designed to simplify screening for trisonimies 21, 18 and 13, with the platform measuring fetal chromosomal trisomies in maternal plasma by targeted fluorescent labelling and counting specific cell-free DNA (cfDNA) fragments.

Olle Ericsson, general manager of PerkinElmer company Vanadis Diagnostics 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.”