What is the novel technology behind Revvity’s Vanadis® cfDNA NIPT screening platform to detect trisomies 21, 18, and 13? ​

The Vanadis® NIPT system is the only NIPT screening platform to enable targeted cfDNA analysis allowing the quantification of chromosomes 21, 18, 13 without PCR, sequencing, microarrays or microfluidics. Instead, 3500 cfDNA fragments per chromosome are captured by highly specific chromosome 21, 18, and 13 probes. After perfect hybridization and ligation of the fragments to both ends of the specific probes, these create DNA circles including the chromosomal fragments. Signals from chromosome fragments in DNA circles are amplified by rolling circle replication and then labelled with specific fluorophores. A proprietary nanofilter plate then captures labeled DNA molecules for imaging. Afterwards, aneuploidy of chromosome 21, 18 and 13 is quantified by imaging and signal intensity. Further technical background can be found here:​

Dahl, F. et al. Imaging single DNA molecules for high precision NIPT. Sci Rep 8, 4549 (2018).​