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dc.contributor.authorŽilina, Olga
dc.contributor.authorRekker, Kadri
dc.contributor.authorKaplinski, Lauris
dc.contributor.authorSauk, Martin
dc.contributor.authorPaluoja, Priit
dc.contributor.authorTeder, Hindrek
dc.contributor.authorUstav, Eva‐Liina
dc.contributor.authorTõnisson, Neeme
dc.contributor.authorReimand, Tiia
dc.contributor.authorRidnõi, Konstantin
dc.contributor.authorPalta, Priit
dc.contributor.authorVermeesch, Joris Robert
dc.contributor.authorKrjutškov, Kaarel
dc.contributor.authorKurg, Ants
dc.contributor.authorSalumet, Andres
dc.date.accessioned2019-11-13T07:32:47Z
dc.date.available2019-11-13T07:32:47Z
dc.date.issued2019-11
dc.identifier.urihttps://doi.org/10.1002/pd.5578
dc.identifier.urihttp://hdl.handle.net/10062/66631
dc.description.abstractObjective The study aimed to validate a whole‐genome sequencing‐based NIPT laboratory method and our recently developed NIPTmer aneuploidy detection software with the potential to integrate the pipeline into prenatal clinical care in Estonia. Method In total, 424 maternal blood samples were included. Analysis pipeline involved cell‐free DNA extraction, library preparation and massively parallel sequencing on Illumina platform. Aneuploidies were determined with NIPTmer software, which is based on counting pre‐defined per‐chromosome sets of unique k‐mers from sequencing raw data. SeqFF was implemented to estimate cell‐free fetal DNA (cffDNA) fraction. Results NIPTmer identified correctly all samples of non‐mosaic trisomy 21 (T21, 15/15), T18 (9/9), T13 (4/4) and monosomy X (4/4) cases, with the 100% sensitivity. However, one mosaic T18 remained undetected. Six false‐positive (FP) results were observed (FP rate of 1.5%, 6/398), including three for T18 (specificity 99.3%) and three for T13 (specificity 99.3%). The level of cffDNA of <4% was estimated in eight samples, including one sample with T13 and T18. Despite low cffDNA level, these two samples were determined as aneuploid. Conclusion We believe that the developed NIPT method can successfully be used as a universal primary screening test in combination with ultrasound scan for the first trimester fetal examination.et
dc.language.isoenget
dc.publisherJohn Wiley & Sons, Ltd.et
dc.relationinfo:eu-repo/grantAgreement/EC/H2020/692065///WIDENLIFEet
dc.rightsinfo:eu-repo/semantics/embargoedAccesset
dc.titleCreating basis for introducing non‐invasive prenatal testing in the Estonian public health settinget
dc.typeinfo:eu-repo/semantics/articleet


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