{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T19:23:52Z","timestamp":1758396232106,"version":"3.40.5"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,3]],"date-time":"2021-01-03T00:00:00Z","timestamp":1609632000000},"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":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a retrospective chart review of HEK in British Columbia (January 2013\u2013December 2019) and literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 20 cases of HEK without other anomalies (isolated) in our provincial cohort, one was lost to follow\u2010up. Eight had testable genetic etiologies (autosomal dominant polycystic kidney disease [ADPKD], autosomal recessive polycystic kidney disease [ARPKD], Bardet\u2013Biedl syndrome [BBS], and <jats:italic>HNF1B<\/jats:italic>\u2010related disorder). The remaining seven did not have an identifiable genetic etiology. Of cases without a genetic etiology with postnatal follow\u2010up (<jats:italic>n<\/jats:italic>\u00a0=\u00a06) there were no abnormalities of blood pressure, creatinine\/estimated glomerular filtration rate or urinalysis identified with follow\u2010up from 2\u201371\u00a0months. We report 11 cases with extrarenal anomalies (nonisolated), with outcomes and etiologies.<\/jats:p><jats:p>We identified 224 reported cases of isolated HEK in the literature. A potentially testable genetic etiology was found in 128\/224 (57.1%). The neonatal death rate in those with testable etiologies was 17\/128 (13.3%) compared to 2\/96 (2.1%) when testable etiologies were excluded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Genetic etiologies (ARPKD, ADPKD, BBS, <jats:italic>HNF1B<\/jats:italic>\u2010related disorder, Beckwith\u2013Wiedemann syndrome, tubular dysgenesis, familial nephroblastoma, and cytogenetic abnormalities) account for approximately half of prenatally isolated HEK; once excluded there are few neonatal deaths and short\u2010term renal outcomes may be normal. There remains a paucity of knowledge about long\u2010term renal outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5883","type":"journal-article","created":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T19:13:55Z","timestamp":1608318835000},"page":"465-477","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9799-0498","authenticated-orcid":false,"given":"Elizabeth L.","family":"Digby","sequence":"first","affiliation":[{"name":"Provincial Medical Genetics Program BC Women's Hospital  Vancouver British Columbia Canada"},{"name":"University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Liauw","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal\u2010Medicine Department of Obstetrics and Gynecology University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janis","family":"Dionne","sequence":"additional","affiliation":[{"name":"University of British Columbia  Vancouver British Columbia Canada"},{"name":"Department of Pediatrics Division of Nephrology BC Children's Hospital  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-3625","authenticated-orcid":false,"given":"Sylvie","family":"Langlois","sequence":"additional","affiliation":[{"name":"Provincial Medical Genetics Program BC Women's Hospital  Vancouver British Columbia Canada"},{"name":"University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah M.","family":"Nikkel","sequence":"additional","affiliation":[{"name":"Provincial 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