Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions Marcel Kucharik1,2, Andrej Gnip3,4, Michaela Hyblova3,4, Jaroslav Budis1,2,5, Lucia Strieskova1, Maria Harsanyova1,6, Ondrej Pös1,6, Zuzana Kubiritova1,6,7, Jan Radvanszky1,7, Gabriel Minarik3,4, Tomas Szemes1,2,6 1Geneton Ltd., Bratislava, Slovakia 2Comenius University Science Park, Bratislava, Slovakia 3Medirex Inc., Bratislava, Slovakia. 4TrisomyTest Ltd., Bratislava, Slovakia 5Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia 6Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia 7Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia Abstract To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. We used known cases of pathogenic deletions from ISCA database to specifically define regions critical for the target syndromes. Our approach to detect microdeletions, from whole genome sequencing data, is based on sample normalization and read counting for individual bins. We performed both an in-silico study using artificially created data sets and a laboratory test on mixed DNA samples, with known microdeletions, to assess the sensitivity of prediction for varying fetal fractions, deletion lengths, and sequencing read counts. The in-silico study showed sensitivity of 79.3% for 10% fetal fraction with 20M read count, which further increased to 98.4% if we searched only for deletions longer than 3Mb. The test on laboratory-prepared mixed samples was in agreement with in-silico results, while we were able to correctly detect 24 out of 29 control samples. Our results suggest that it is possible to incorporate microaberration detection into basic NIPT as part of the offered screening/diagnostics procedure, however, accuracy and reliability depends on several specific factors. The post Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions appeared first on Geneton.
Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing Pös, O.1,2, Budis, J.3,4,5, Kubiritova, Z.6,7, Kucharik, M.8, Duris, F.9,10, Radvanszky, J.11,12, Szemes, T.13,14,15 1Faculty of Natural Sciences, Comenius Universi
prejsť na článokNon-invasive prenatal testing as a valuable source of population specific allelic frequencies Budis, J.a,b,1, Gazdarica, J.b,c,1, Radvanszky, J.b,d, Harsanyova, M.b,c, Gazdaricova, I.c, Strieskova, L.b,c, Frno, R.b,c, Duris, F.b,e, Minarik, G.f, Sekelska
prejsť na článokGeneton vyvinul neinvazívnu metódu na získanie dôležitých informácií o štrukturálnych zmenách plodu na základe vzorky materskej krvi, zvaný NIPT Test. Metóda nepredstavuje žiadne riziko pre plod alebo pre matku, preto predstavuje bezpečnú alternatívu trad
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