{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T06:21:10Z","timestamp":1789885270157,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T00:00:00Z","timestamp":1558396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015798","name":"Suzhou Key Medical Center","doi-asserted-by":"crossref","award":["SZZX201505"],"award-info":[{"award-number":["SZZX201505"]}],"id":[{"id":"10.13039\/100015798","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Suzhou Science and Technology Support Program","award":["SYS201649"],"award-info":[{"award-number":["SYS201649"]}]},{"name":"Jiangsu Maternal and Children health care research project","award":["F201603"],"award-info":[{"award-number":["F201603"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The detection limit of noninvasive prenatal testing (NIPT) by next generation sequencing for any given fetal copy number variants (CNV) can be influenced by several factors. In this study, we quantified the effects and predicted the value of parameters for CNVs detection by NIPT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA from patient's leucocytes with 3.16\u00a0Mb microdeletion in 22q11.21 was mixed with DNA from aborted fetal tissues without CNV at various concentrations by an enzyme digestion method. Abnormal DNA at 0% served as negative control. Sequencing of mixture samples (at 0%, 4%, 12%, and 20%) by Ion Proton Sequencer was performed at flow 500, with WISECONDOR as the pipeline in CNV\u2010calling and bin of 500, 750 and 1,000\u00a0kb for counting unique reads. The parameters were evaluated with Box\u2013Behnken design. The region with <jats:italic>Z<\/jats:italic> score \u2266\u22123 was marked as a potential microdeletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The equation of <jats:italic>Z<\/jats:italic> score depending on fetal fraction, unique read number and bin size was obtained by Box\u2013Behnken design. The negative effect was quantified as the coefficient in the equation. The smallest values of these parameters were defined as 4\u00a0M unique read number, and 10.08% fetal DNA concentration at bin of 750\u00a0kb for detecting subchromosomal microdeletion of 3.16\u00a0Mb.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The quantification of effect and value of parameters as well as the method used in this study can benefit the establishment of quality standards for CNVs detection and interpretation of CNVs detection results.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.718","type":"journal-article","created":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T04:34:39Z","timestamp":1558499679000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2391-9290","authenticated-orcid":false,"given":"Chunhua","family":"Zhang","sequence":"first","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Liang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences and Biotechnology Shanghai Jiao Tong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Longwei","family":"Qiao","sequence":"additional","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Xuan","sequence":"additional","affiliation":[{"name":"Basecare Medical Device Co., Ltd Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4642-117X","authenticated-orcid":false,"given":"Quanze","family":"He","sequence":"additional","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Wu","sequence":"additional","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiafeng","family":"Lu","sequence":"additional","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7796-7314","authenticated-orcid":false,"given":"Bin","family":"Yu","sequence":"additional","affiliation":[{"name":"Changzhou Women and Children Health Hospital affiliated to Nanjing Medical University Changzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Wang","sequence":"additional","affiliation":[{"name":"The Affiliated Suzhou Hospital of Nanjing Medical University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.09.002"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2028"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028240"},{"issue":"1","key":"e_1_2_7_5_1","first-page":"6","article-title":"Prevalence of chromosomal abnormalities and 22q11.2 deletion in conotruncal and non\u2010conotruncal antenatally diagnosed congenital heart diseases in a Chinese population","volume":"25","author":"Kong C. 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