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Abstract
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing. The primary objective of this study was to assess the Vanadis NIPT assay with respect to analytical precision and clinical feasibility. Analysis of reference DNA samples indicate that samples which are challenging to analyze with low fetal-fraction can be readily detected with a limit of detection determined at <2% fetal-fraction. In total of 286 clinical samples were analysed and 30 out of 30 pregnancies affected by trisomy 21 were classified correctly. This method has the potential to make cost effective NIPT more widely available with more women benefiting from superior detection and false positive rates.
Highlights
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, for most healthcare programs, cost and workflow complexity is limiting adoption of the test
Prenatal screening based on cell free DNA, referred to as non-invasive prenatal testing (NIPT), has rapidly been adopted to become the standard follow-up procedure for patients classified as high risk using traditional combined first trimester screening (FTS)[1]
In this study we could show that the Vanadis NIPT assay has the ability to achieve very high precision measurements for aneuploidy in clinical as well as standardized test samples
Summary
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, for most healthcare programs, cost and workflow complexity is limiting adoption of the test. In total of 286 clinical samples were analysed and 30 out of 30 pregnancies affected by trisomy 21 were classified correctly This method has the potential to make cost effective NIPT more widely available with more women benefiting from superior detection and false positive rates. The majority of available NIPT solutions are using the digital quantification power of advanced sequencing platforms[2] These solutions are expensive and complicated for laboratories to establish and operate which in turn increase test costs and limit accessibility of NIPT for pregnant women. Other proof of concept NIPT solutions using digital PCR9, MLPA10 and methylation based analysis[11] have been demonstrated as potential alternative cost effective NIPT methods To our knowledge these solutions have not been widely adopted in clinical practice since clinical performance is not on par with existing solutions. The primary objective of this study was to assess the Vanadis NIPT assay with respect to analytical precision and clinical feasibility to correctly identify trisomy 21 pregnancies
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