{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T11:50:48Z","timestamp":1688212248066},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Noninvasive prenatal aneuploidy testing (NIPT) represents the first large-scale clinical application of massively parallel sequencing technology. However, no NIPT reference material (RM) has yet been widely adopted, impeding the development of quality management systems and standardization. Developing an NIPT RM from a biological sample is complicated by the low concentration of cell-free DNA (cfDNA), which implies pooling specimens and frequent resampling.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We tested the feasibility of using DNA from immortalized cell lines of a woman and her aneuploid offspring to spike an artificial plasma matrix. Enzymatic fragmentation of extracted DNA was optimized to achieve fragment size profiles with a mode of 150 to 200 bp, similar to biological cfDNA. This synthetic material was compared with routine biological samples from pregnant women by a targeted NIPT assay in a multiplex sequencing run on a Proton platform.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Sequencing statistics were similar between artificially prepared material and routine biological samples, as well as relative chromosomal representation, and no matrix effects could be detected. Estimate of fetal fraction (FF) was within the range of expected value, and aneuploidy detection statistic (z-score) was also comparable between both types of samples.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Artificial plasma spiked with DNA from cell lines of mother and offspring is a promising strategy for developing NIPT RM. This type of material would offer the advantage of a constant and stable composition, allowing for greater standardization of NIPT assays. Moreover, it preserves the parental relatedness used by targeted assay to estimate FF by identification of paternal alleles in single-nucleotide polymorphisms or other variable regions.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1373\/jalm.2018.028100","type":"journal-article","created":{"date-parts":[[2019,3,2]],"date-time":"2019-03-02T01:15:37Z","timestamp":1551489337000},"page":"50-60","source":"Crossref","is-referenced-by-count":3,"title":["Development of Reference Materials for Noninvasive Prenatal Aneuploidy Testing by Massively Parallel Sequencing: A Proof-of-Concept Study"],"prefix":"10.1093","volume":"4","author":[{"given":"Jonatan","family":"Blais","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Universit\u00e9 Laval, Quebec City, Quebec, Canada"},{"name":"Service of Medical Biochemistry, Department of Medical Biology, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"Human and Molecular Genetics Research Unit, Research Center, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"PEGASUS, Quebec City, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Giroux","sequence":"additional","affiliation":[{"name":"Human and Molecular Genetics Research Unit, Research Center, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"PEGASUS, Quebec City, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Caron","sequence":"additional","affiliation":[{"name":"Human and Molecular Genetics Research Unit, Research Center, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"PEGASUS, Quebec City, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cl\u00e9ment","sequence":"additional","affiliation":[{"name":"Human and Molecular Genetics Research Unit, Research Center, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"PEGASUS, Quebec City, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Rousseau","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Universit\u00e9 Laval, Quebec City, Quebec, Canada"},{"name":"Service of Medical Biochemistry, Department of Medical Biology, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"Human and Molecular Genetics Research Unit, Research Center, CHU de Qu\u00e9bec, Quebec City, Quebec, Canada"},{"name":"PEGASUS, Quebec City, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,7,1]]},"reference":[{"key":"2022020118553967300_B1","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.jmoldx.2012.04.006","article-title":"Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the 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