{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:26:33Z","timestamp":1740104793016,"version":"3.37.3"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,2,15]],"date-time":"2016-02-15T00:00:00Z","timestamp":1455494400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1"},{"start":{"date-parts":[[2016,2,15]],"date-time":"2016-02-15T00:00:00Z","timestamp":1455494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions"}],"funder":[{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["281964"],"award-info":[{"award-number":["281964"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenat Diagn"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1002\/pd.4777","type":"journal-article","created":{"date-parts":[[2016,1,16]],"date-time":"2016-01-16T18:13:14Z","timestamp":1452967994000},"page":"216-223","source":"Crossref","is-referenced-by-count":2,"title":["Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations"],"prefix":"10.1002","volume":"36","author":[{"given":"Kornelia","family":"Neveling","sequence":"first","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"},{"name":"Genomics Technology Center; Radboud University Medical Center; Nijmegen The Netherlands"},{"name":"Prenatal Screening Foundation Nijmegen Region; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Djie","family":"Tjwan Thung","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lean","family":"Beulen","sequence":"additional","affiliation":[{"name":"Prenatal Screening Foundation Nijmegen Region; Nijmegen The Netherlands"},{"name":"Department of Obstetrics and Gynecology; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"van Rens-Buijsman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"},{"name":"Genomics Technology Center; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Gomes","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"van den Heuvel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"},{"name":"Genomics Technology Center; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanneke","family":"Mieloo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"Derks-Prinsen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"Kater-Baats","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte H. W.","family":"Faas","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,15]]},"reference":[{"key":"10.1002\/pd.4777-BIB0001|pd4777-cit-0001","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/S0140-6736(97)02174-0","article-title":"Presence of fetal DNA in maternal plasma and serum","volume":"350","author":"Lo","year":"1997","journal-title":"Lancet"},{"issue":"Suppl 1","key":"10.1002\/pd.4777-BIB0002|pd4777-cit-0002","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1517\/14712598.2012.670632","article-title":"Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells","volume":"12","author":"Faas","year":"2012","journal-title":"Expert Opin Biol Ther"},{"key":"10.1002\/pd.4777-BIB0003|pd4777-cit-0003","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1373\/clinchem.2003.024893","article-title":"Size distributions of maternal and fetal DNA in maternal plasma","volume":"50","author":"Chan","year":"2004","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0004|pd4777-cit-0004","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1086\/301800","article-title":"Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis","volume":"62","author":"Lo","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1002\/pd.4777-BIB0005|pd4777-cit-0005","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1373\/clinchem.2008.111385","article-title":"Microfluidics digital pcr reveals a higher than expected fraction of fetal DNA in maternal plasma","volume":"54","author":"Lun","year":"2008","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0006|pd4777-cit-0006","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/uog.12331","article-title":"Fetal fraction in maternal plasma cell-free DNA at 11-13\u2009weeks' gestation: relation to maternal and fetal characteristics","volume":"41","author":"Ashoor","year":"2013","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1002\/pd.4777-BIB0007|pd4777-cit-0007","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1159\/000346806","article-title":"Maternal plasma cell-free fetal and maternal DNA at 11-13\u2009weeks' gestation: relation to fetal and maternal characteristics and pregnancy outcomes","volume":"33","author":"Poon","year":"2013","journal-title":"Fetal Diagn Ther"},{"key":"10.1002\/pd.4777-BIB0008|pd4777-cit-0008","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1373\/clinchem.2013.207951","article-title":"Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy x","volume":"60","author":"Rava","year":"2014","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0009|pd4777-cit-0009","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1002\/pd.4625","article-title":"Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing","volume":"35","author":"Kinnings","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4777-BIB0010|pd4777-cit-0010","doi-asserted-by":"crossref","first-page":"319.e1","DOI":"10.1016\/j.ajog.2012.01.030","article-title":"Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18","volume":"206","author":"Sparks","year":"2012","journal-title":"Am J Obstet Gynecol"},{"key":"10.1002\/pd.4777-BIB0011|pd4777-cit-0011","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/pd.2922","article-title":"Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy","volume":"32","author":"Sparks","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4777-BIB0012|pd4777-cit-0012","doi-asserted-by":"crossref","first-page":"20458","DOI":"10.1073\/pnas.0810641105","article-title":"Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma","volume":"105","author":"Chiu","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/pd.4777-BIB0013|pd4777-cit-0013","doi-asserted-by":"crossref","first-page":"16266","DOI":"10.1073\/pnas.0808319105","article-title":"Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood","volume":"105","author":"Fan","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/pd.4777-BIB0014|pd4777-cit-0014","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/uog.14791","article-title":"Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis","volume":"45","author":"Gil","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1002\/pd.4777-BIB0015|pd4777-cit-0015","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1097\/AOG.0b013e31824fb482","article-title":"Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing","volume":"119","author":"Bianchi","year":"2012","journal-title":"Obstet Gynecol"},{"key":"10.1002\/pd.4777-BIB0016|pd4777-cit-0016","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1002\/pd.4002","article-title":"Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors","volume":"32","author":"Dan","year":"2012","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4777-BIB0017|pd4777-cit-0017","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1056\/NEJMoa1311037","article-title":"DNA sequencing versus standard prenatal aneuploidy screening","volume":"370","author":"Bianchi","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1002\/pd.4777-BIB0018|pd4777-cit-0018","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1373\/clinchem.2014.223198","article-title":"Noninvasive detection of a balanced fetal translocation from maternal plasma","volume":"60","author":"Jensen","year":"2014","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0019|pd4777-cit-0019","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1373\/clinchem.2011.174698","article-title":"Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection","volume":"58","author":"Oever","year":"2012","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0020|pd4777-cit-0020","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1373\/clinchem.2012.196212","article-title":"Successful noninvasive trisomy 18 detection using single molecule sequencing","volume":"59","author":"Oever","year":"2013","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0021|pd4777-cit-0021","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1373\/clinchem.2009.136507","article-title":"Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21","volume":"56","author":"Chiu","year":"2010","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0022|pd4777-cit-0022","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1586\/14737159.2015.973857","article-title":"Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories","volume":"15","author":"Thung","year":"2015","journal-title":"Expert Rev Mol Diagn"},{"key":"10.1002\/pd.4777-BIB0023|pd4777-cit-0023","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1373\/clinchem.2012.196725","article-title":"Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy","volume":"59","author":"Yuan","year":"2013","journal-title":"Clin Chem"},{"key":"10.1002\/pd.4777-BIB0024|pd4777-cit-0024","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1007\/s11427-014-4696-0","article-title":"Delivering noninvasive prenatal testing in a clinical setting using semiconductor sequencing platform","volume":"57","author":"Gao","year":"2014","journal-title":"Sci China Life Sci"},{"key":"10.1002\/pd.4777-BIB0025|pd4777-cit-0025","doi-asserted-by":"crossref","first-page":"7415","DOI":"10.1073\/pnas.1321997111","article-title":"Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing","volume":"111","author":"Liao","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/pd.4777-BIB0026|pd4777-cit-0026","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/jhg.2014.40","article-title":"Comparison of the performance of ion torrent chips in noninvasive prenatal trisomy detection","volume":"59","author":"Wang","year":"2014","journal-title":"J Hum Genet"},{"key":"10.1002\/pd.4777-BIB0027|pd4777-cit-0027","unstructured":"Li H Aligning sequence reads, clone sequences and assembly contigs with bwa-mem 2013"},{"issue":"5","key":"10.1002\/pd.4777-BIB0028|pd4777-cit-0028","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1093\/nar\/gkt992","article-title":"Wisecondor: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme","volume":"42","author":"Straver","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/pd.4777-BIB0029|pd4777-cit-0029","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1586\/14737159.2014.919855","article-title":"Introducing wisecondor for noninvasive prenatal diagnostics","volume":"14","author":"Straver","year":"2014","journal-title":"Expert Rev Mol Diagn"},{"key":"10.1002\/pd.4777-BIB0030|pd4777-cit-0030","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/pd.4366","article-title":"Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma","volume":"34","author":"Benn","year":"2014","journal-title":"Prenat Diagn"},{"key":"10.1002\/pd.4777-BIB0031|pd4777-cit-0031","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1016\/j.clinbiochem.2013.07.020","article-title":"Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24\u2009h after venipuncture","volume":"46","author":"Buysse","year":"2013","journal-title":"Clin Biochem"},{"volume-title":"ISCN 2013: An International System for Human Cytogenetic Nomenclature","year":"2013","author":"Shaffer","key":"10.1002\/pd.4777-BIB0032|pd4777-cit-0032"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4777","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4777","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/pd.4777\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T23:06:47Z","timestamp":1625353607000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pd.4777"}},"subtitle":["Noninvasive prenatal testing by two-channel SBS"],"short-title":[],"issued":{"date-parts":[[2016,2,15]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"URL":"https:\/\/doi.org\/10.1002\/pd.4777","archive":["Portico"],"relation":{},"ISSN":["0197-3851"],"issn-type":[{"type":"print","value":"0197-3851"}],"subject":[],"published":{"date-parts":[[2016,2,15]]}}}