{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:50Z","timestamp":1747151390979,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T00:00:00Z","timestamp":1707868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Significant discrepancy exists between laboratories in classification and reporting of copy number variants (CNVs). Studies exploring factors affecting prenatal CNV management are rare. Our \u201cvirtual fetus\u201d pilot study examines these factors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Ten prenatally diagnosed CNVs of uncertain significance (VUS)\u00a0&gt;\u00a01Mb, encompassing OMIM\u2010morbid genes, inherited from healthy parents, were classified by 15 MD geneticists from laboratory, prenatal, and preimplantation genetic testing (PGT) units. Geneticists addressed factors affecting classification, obligation to report, and recommendation for invasive testing or PGT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>CNVs were classified likely benign (10.7%), VUS (74.7%), likely pathogenic (8.7%), or pathogenic (6.0%). Classification discrepancy was higher for losses versus gains. Classifying pathogenic\/likely pathogenic was more common for losses (adjusted odds ratio [aOR] 10.9, 95% CI 1.55\u201376.9), and geneticists specializing in gynecology (aOR 4.9, 95% CI 1.03\u201323.3). 84.0% of respondents would report CNVs, depending on classification and family phenotype. Invasive testing in pregnancies was recommended for 29.3% of CNVs, depending on the\u00a0classification and geneticist's specialization. PGT was recommended for 32.4%, depending on classification, experience years, and family's phenotype (38.0% for patients undergoing in vitro fertilization irrespectively, 26.7% otherwise).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Factors affecting CNV classification\/reporting are mainly dosage, family phenotype, geneticist specialization and experience. Understanding factors from our pilot study may facilitate developing an algorithm for clinical consensus and optimal management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6535","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T11:53:04Z","timestamp":1707911584000},"page":"511-518","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a \u201cvirtual fetus\u201d model\u2010a pilot study"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2543-664X","authenticated-orcid":false,"given":"Rachel","family":"Michaelson\u2010Cohen","sequence":"first","affiliation":[{"name":"Faculty of Medicine Medical Genetics Institute Shaare Zedek Medical Center Hebrew University of Jerusalem  Jerusalem 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Human Genetics Sheba Medical Center Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Medical Genetics Institute Shaare Zedek Medical Center Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reeval","family":"Segel","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Medical Genetics Institute Shaare Zedek Medical Center Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rivka","family":"Sukenik\u2010Halevy","sequence":"additional","affiliation":[{"name":"Genetics Institute Meir Medical Center Sackler School of Medicine Tel Aviv University  Kfar Saba Central 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