{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T22:15:11Z","timestamp":1771884911437,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,12]],"date-time":"2016-05-12T00:00:00Z","timestamp":1463011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p><jats:bold>What's Already Known about This Topic?<\/jats:bold>\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>Aneuploidy screening using cell free DNA (cfDNA) has recently been expanded to include selected microdeletions. However, validation has been limited, and the real\u2010world positive\u2010predictive value is unknown.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><jats:p><jats:bold>What Does This Study Add?<\/jats:bold>\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>Here we describe three cases of false positive cfDNA microdeletions because of small, non\u2010pathogenic copy number variants near the region of interest. These findings elucidate one mechanism of false\u2010positive results with this screening test and suggest that additional validation is necessary before wider use in clinical practice.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1002\/pd.4823","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T18:48:57Z","timestamp":1460314137000},"page":"584-586","source":"Crossref","is-referenced-by-count":6,"title":["False positive cell free DNA screening for microdeletions due to non\u2010pathogenic copy number variants"],"prefix":"10.1002","volume":"36","author":[{"given":"Cheryl A.","family":"Mather","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine University of California San Francisco  San Francisco CA USA"},{"name":"Department of Pathology University of California San Francisco  San Francisco CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongxia","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of California San Francisco  San Francisco CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7465-6964","authenticated-orcid":false,"given":"Arun P.","family":"Wiita","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of California San Francisco  San Francisco CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,12]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000363"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.03.042"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.11.041"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2015.05.028"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.197"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.196"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1408408"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4823","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4823","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.4823","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T14:37:45Z","timestamp":1695739065000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.4823"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,12]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/pd.4823"],"URL":"https:\/\/doi.org\/10.1002\/pd.4823","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,12]]}}}