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Single\u2010nucleotide polymorphism array detected CNVs of at least 500\u2009kb. CNVs were classified into two groups: normal, defined as no CNVs\u2009&gt;500\u2009kb or benign CNVs, and abnormal, defined as pathogenic or variants of unknown clinical significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main outcome measures<\/jats:title><jats:p>The proportions of abnormal CNVs and normal CNVs were compared between stillbirth cases with and without FSMs using the Wald Chi\u2010square test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proportion of stillbirth cases with any FSMs was higher among those with abnormal CNVs than among those with normal CNVs (47.5 versus 19.1%; <jats:italic>P<\/jats:italic>\u2010value\u2009&lt;0.001). The most common organ system\u2010specific FSMs associated with abnormal CNVs were cardiac defects, followed by hydrops, craniofacial defects and skeletal defects. A pathogenic deletion of 1q21.1 involving 46 genes (e.g. <jats:italic>CHD1L<\/jats:italic>) and a duplication of 21q22.13 involving four genes (<jats:italic>SIM2<\/jats:italic>, <jats:italic>CLDN14<\/jats:italic>, <jats:italic>CHAF1B<\/jats:italic>, <jats:italic>HLCS<\/jats:italic>) were associated with a skeletal and cardiac defect, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Specific CNVs involving several genes were associated with FSMs in stillborn fetuses. The findings warrant further investigation and may inform counselling and care surrounding pregnancies affected by FSMs at risk for stillbirth.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1471-0528.17561","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T13:01:32Z","timestamp":1685710892000},"page":"157-162","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study"],"prefix":"10.1111","volume":"131","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4571-9740","authenticated-orcid":false,"given":"Tsegaselassie","family":"Workalemahu","sequence":"first","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Dalton","sequence":"additional","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon L.","family":"Son","sequence":"additional","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"},{"name":"Intermountain Healthcare  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Allshouse","sequence":"additional","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew Z.","family":"Carey","sequence":"additional","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica M.","family":"Page","sequence":"additional","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"},{"name":"Intermountain Healthcare  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan R.","family":"Blue","sequence":"additional","affiliation":[{"name":"University of Utah Health  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Thorsten","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center  New York New York USA"},{"name":"RTI International  Research Triangle Park North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert L.","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Columbia University  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halit","family":"Pinar","sequence":"additional","affiliation":[{"name":"Division of Perinatal Pathology Brown University School of Medicine  Providence Rhode Island USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uma M.","family":"Reddy","sequence":"additional","affiliation":[{"name":"Obstetrics, Gynecology &amp; 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