{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:50:51Z","timestamp":1767837051956,"version":"3.49.0"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T00:00:00Z","timestamp":1740268800000},"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":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report a case of a male fetus with early\u2010onset macrosomia and a pathogenic variant in <jats:italic>PTEN<\/jats:italic> identified on a macrocephaly and overgrowth sequencing panel. The pregnancy ended at 25\u00a0weeks gestation. On post\u2010mortem examination, macrosomia was confirmed, and maturation of the brain was approximately 3\u00a0weeks ahead of that of the visceral organs. There was microscopic evidence of gonadoblastoid dysplasia, which is an extremely rare finding and has never been associated with <jats:italic>PTEN<\/jats:italic> hamartoma tumor syndrome (PHTS). To our knowledge, this is the first report of a prenatal phenotype with a heterozygous germline variant in <jats:italic>PTEN<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/pd.6765","type":"journal-article","created":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T03:58:51Z","timestamp":1740369531000},"page":"572-575","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Early\u2010Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a <i>PTEN<\/i> Variant"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8763-1503","authenticated-orcid":false,"given":"Danielle C.","family":"Lynch","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6703-0656","authenticated-orcid":false,"given":"Anna F.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology University of British Columbia  Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1138-5044","authenticated-orcid":false,"given":"Alison M. R.","family":"Castle","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1897\u20104287\u20104\u20104\u2010177"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010024\u201006301\u20102"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11070975"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12030358"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440309"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.2350\/06\u201009\u20100158.1"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6765","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T13:36:58Z","timestamp":1744378618000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6765"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,23]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/pd.6765"],"URL":"https:\/\/doi.org\/10.1002\/pd.6765","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,23]]},"assertion":[{"value":"2024-11-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}