{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:26:21Z","timestamp":1771464381220,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T00:00:00Z","timestamp":1649635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Key points<\/jats:title><jats:p><jats:bold>What's already known about this topic?<\/jats:bold><\/jats:p><jats:p>\n<jats:list list-type=\"bullet\">\n<jats:list-item>\n<jats:p>Genetic lymphatic disorders are a common cause of non\u2010immune hydrops fetalis, with <jats:italic>PIEZO1<\/jats:italic> being one of the more recently established disease\u2010causing genes.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><jats:p><jats:bold>What does this study add?<\/jats:bold><\/jats:p><jats:p>\n<jats:list list-type=\"bullet\">\n<jats:list-item>\n<jats:p>Disease\u2010causing <jats:italic>PIEZO1<\/jats:italic> variants have mostly been reported as single nucleotide variants or small indels. We report on a fetus with compound heterozygous deletions within and including <jats:italic>PIEZO1.<\/jats:italic> The deletions were not detected by chromosomal microarray (CMA).<\/jats:p><\/jats:list-item>\n<jats:list-item>\n<jats:p>This case highlights the value of exome sequencing in detecting copy number variants that are below CMA resolution.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p>","DOI":"10.1002\/pd.6142","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T09:15:19Z","timestamp":1649409319000},"page":"890-893","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Non\u2010immune hydrops fetalis caused by <i>PIEZO1<\/i> compound heterozygous deletions detected only by exome sequencing"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0979-9878","authenticated-orcid":false,"given":"Sivan","family":"Reytan","sequence":"first","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noa","family":"Zunz Henig","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0702-370X","authenticated-orcid":false,"given":"Yoav","family":"Yinon","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Department of Obstetrics and Gynecology Sheba Medical Center  Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagai","family":"Avnet","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Department of Obstetrics and Gynecology Sheba Medical Center  Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina","family":"Kurolap","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8622-7668","authenticated-orcid":false,"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv 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