{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T14:50:30Z","timestamp":1777474230064,"version":"3.51.4"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital hydrocephalus (CH) is a life\u2010threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range from secondary insults to germline pathogenic variants, complicating diagnostic processes and treatment outcomes. Currently, an updated summary of CH genetic etiologies in conjunction with clinical testing methodologies is lacking. This review addresses this need by generating a centralized survey of known genetic causes and available molecular tests for CH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The scoping review protocol was registered with the Open Science Framework and followed the Arksey and O'Malley framework and the Joanna Briggs Institute methodology. The Preferred Reporting Items for Systematic reviews and Meta\u2010Analyses extension for Scoping Reviews (PRISMA\u2010ScR) was utilized to define search guidelines and screening criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our survey revealed a high number of genetic etiologies associated with CH, ranging from single gene variants to multifactorial birth defects, and additionally uncovered diagnostic challenges that are further complicated by changes in testing approaches over the years. Furthermore, we discovered that most of the existing literature consists of case reports, underscoring the need for studies that utilize CH patient research cohorts as well as more mechanistic studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The pursuit of such studies will facilitate novel gene discovery while recognizing phenotypic complexity. Addressing these research gaps could ultimately inform evidence\u2010based diagnostic guidelines to improve patient care.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2287","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T11:35:58Z","timestamp":1703072158000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review"],"prefix":"10.1002","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2880-9982","authenticated-orcid":false,"given":"Caroline","family":"Arag\u00f3n","sequence":"first","affiliation":[{"name":"Department of Genetics, Cell Biology, and Development University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D'aviyan","family":"Robinson","sequence":"additional","affiliation":[{"name":"Department of Biology Teaching and Learning University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Kocher","sequence":"additional","affiliation":[{"name":"University of Minnesota Libraries  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie","family":"Barrick","sequence":"additional","affiliation":[{"name":"University of Minnesota Libraries  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihsia","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cell Biology, and Development University of Minnesota  Minneapolis Minnesota USA"},{"name":"Developmental Biology Center University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Zierhut","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cell Biology, and Development University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,20]]},"reference":[{"issue":"4","key":"e_1_2_9_2_1","first-page":"557","article-title":"Clinical \u201ccase series\u201d: a concept analysis","volume":"12","author":"Abu\u2010Zidan F.","year":"2012","journal-title":"African Health Sciences"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1146-1"},{"key":"e_1_2_9_4_1","first-page":"1","article-title":"Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus","volume":"29","author":"Allington G.","year":"2021","journal-title":"Journal of Neurosurgery. 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