{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T22:00:18Z","timestamp":1757455218761,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T00:00:00Z","timestamp":1703289600000},"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":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a fetus with prenatal ultrasound at 21 gestational weeks showing left cystic renal dysplasia with subcapsular cysts and echogenic parenchyma, right echogenic kidney with absent corticomedullary differentiation, and left congenital diaphragmatic hernia (CDH) with bowel herniation, with intestinal atresia (IA) found on postmortem examination. Whole genome sequencing of fetal blood DNA revealed a heterozygous pathogenic variant c.344\u00a0+\u00a02\u00a0T&gt;G in the <jats:italic>HNF1B<\/jats:italic> gene (NM_000458). Sanger sequencing of the parental samples suggested that it arose de novo in the fetus. <jats:italic>HNF1B<\/jats:italic>\u2010associated disorders affect multiple organs with significant phenotypic heterogeneity. In pediatric and adult patients, renal cystic disease and cystic dysplasia are the dominant phenotypes. In prenatal settings, renal anomaly is also the most common presentation, typically with bilateral hyperechogenic kidneys. Our case presented with two uncommon extra\u2010renal phenotypes of CDH and IA besides the typical bilateral cystic renal dysplasia. This association has been reported in fetuses with 17q12 microdeletion but not with <jats:italic>HNF1B<\/jats:italic> point mutation. Our case is the first prenatal report of such an association and highlights the possible causal relationship of <jats:italic>HNF1B<\/jats:italic> defects with CDH and IA in addition to the typical renal anomalies.<\/jats:p>","DOI":"10.1002\/pd.6501","type":"journal-article","created":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T15:05:00Z","timestamp":1703343900000},"page":"251-254","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Renal and extra\u2010renal phenotypes in a fetus with a de novo pathogenic variant in the <i>HNF1B<\/i> gene"],"prefix":"10.1002","volume":"44","author":[{"given":"Wing Ting","family":"Tse","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong Hong Kong Special Administrative Region"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-1968","authenticated-orcid":false,"given":"Ye","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong Hong Kong Special Administrative Region"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pensi Ping Hei","family":"Lam","sequence":"additional","affiliation":[{"name":"Department of Anatomical and Cellular Pathology The Chinese University of Hong Kong  Hong Kong Hong Kong Special Administrative Region"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwok Ming","family":"Law","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong Hong Kong Special Administrative Region"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3616-6200","authenticated-orcid":false,"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong Hong Kong Special Administrative Region"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5115-3977","authenticated-orcid":false,"given":"Yuen Ha","family":"Ting","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong Hong Kong Special Administrative Region"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000332968"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010101135"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36840"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4690"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36767"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6151"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12690"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00592-020-01641-2"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T19:01:28Z","timestamp":1708110088000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,23]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1002\/pd.6501"],"URL":"https:\/\/doi.org\/10.1002\/pd.6501","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2023,12,23]]},"assertion":[{"value":"2023-09-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}