{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:17:31Z","timestamp":1790457451614,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T00:00:00Z","timestamp":1581897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["5K12HD001262\u201018"],"award-info":[{"award-number":["5K12HD001262\u201018"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["5K12HD001262\u201018"],"award-info":[{"award-number":["5K12HD001262\u201018"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013774","name":"Fetal Health Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013774","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["K23DK119949"],"award-info":[{"award-number":["K23DK119949"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We sought to evaluate the performance of exome sequencing (ES) in determining an underlying genetic etiology for cases of fetal pleural effusions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design<\/jats:title><jats:p>We examined a prospective cohort series of fetal pleural effusions visualized sonographically between 1 April 2016 and 31 August 2017. Fetal pleural effusions attributed to twin sharing, anemia, or structural anomalies were excluded, as were all cases with a genetic diagnosis established by karyotype or chromosomal microarray analysis. The remaining cases with pleural effusions of unclear etiology were offered ES. ES was performed by clinical sequencing and\/or sequencing under the Baylor\u2010Hopkins Center for Mendelian Genomics' (BHCMG) research platform. All cases were evaluated for novel genes or phenotypic expansion of disease\u2010causing genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>ES was performed on six probands affected by pleural effusions. A pathogenic variant was identified in one case (16.7%). Four additional cases had variants of uncertain significance (VUS) in candidate genes of pathological interest. Neither clinical nor candidate genes were evident in the final case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>ES should be considered in the evaluation of prenatally detected idiopathic pleural effusions when other diagnostic workup for a genetic etiology has failed.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5650","type":"journal-article","created":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T10:42:41Z","timestamp":1580294561000},"page":"590-595","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The utility of exome sequencing for fetal pleural effusions"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1792-4029","authenticated-orcid":false,"given":"Angie C.","family":"Jelin","sequence":"first","affiliation":[{"name":"Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine Johns Hopkins School of Medicine  Baltimore MD USA"},{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara","family":"Sobreira","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore MD USA"},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Wohler","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore MD USA"},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Solomon","sequence":"additional","affiliation":[{"name":"GeneDx  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8593-2186","authenticated-orcid":false,"given":"Teresa","family":"Sparks","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology &amp; Reproductive Sciences, Division of Maternal Fetal Medicine University of California  San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9812-771X","authenticated-orcid":false,"given":"Katelynn G","family":"Sagaser","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine Johns Hopkins School of Medicine  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine R.","family":"Forster","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Center for Fetal Therapy Johns Hopkins School of Medicine  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jena","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Center for Fetal Therapy Johns Hopkins School of Medicine  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Dane","family":"Witmer","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore MD USA"},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ada","family":"Hamosh","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore MD USA"},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Valle","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University  Baltimore MD USA"},{"name":"Baylor\u2010Hopkins Center for Mendelian Genomics  Baltimore MD 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