{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:31:42Z","timestamp":1790011902294,"version":"4.0.1"},"reference-count":44,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T00:00:00Z","timestamp":1752624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background and clinical significance: Ectopic ureters are a rare urinary tract malformation, typically diagnosed in childhood and infrequently in adulthood. The prenatal detection by ultrasound and magnetic resonance imaging (MRI) of this clinical entity has scarcely been reported. Careful foetal scanning during the late second and third trimester might provide clues and lead to prenatal detection. However, even the postnatal diagnosis is challenging, and often delayed towards adulthood, since the condition may present with nonspecific symptoms, leading to underdiagnosis or misdiagnosis. In female patients, approximately 25% of ectopic ureters open into the vagina. Due to the high risk of recurrent urinary tract infections and the potential development of uretero-hydronephrosis, timely diagnosis is essential, and prompt surgical correction is mandated. Case presentation: We report the case of a 33-year-old GII PI patient diagnosed with cystic dysplasia of the left foetal kidney at the 16 WG (weeks of gestation) scan. The malformation was consistent at 21 WG when karyotyping by amniocentesis identified a normal female molecular karyotype. MRI performed at 28 weeks confirmed the left renal dysplasia and raised the suspicion of an abnormal insertion of the left ureter into the vagina. After delivery, the vaginal ureteral ectopy was confirmed at 3 weeks postpartum via cystoscopy. Postpartum whole exome sequencing identified a variant of uncertain significance (VUS) mutation in the SOX 13 gene (SRY-box transcription factor 13). Renal scintigraphy performed 7 months postnatally identified a hypo\/afunctional left kidney which led to the indication of nephrectomy by the paediatric urologist. The surgical intervention was performed at 8 months postpartum with a favourable outcome. Conclusions: Ectopic ureters are a pathology generating life-long morbidity and discomfort of the offspring and young adult. Awareness to this pathology must be raised among clinicians, especially regarding the potential detection by minute prenatal ultrasound examinations, followed by MRI to refine diagnosis. Postnatally, the persistence of suspicious yet unspecific symptoms, in both males and females, must trigger thorough imaging\/cystoscopic examination to reach diagnosis and provide correct management.<\/jats:p>","DOI":"10.3390\/diagnostics15141788","type":"journal-article","created":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T08:24:17Z","timestamp":1752654257000},"page":"1788","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Diagnosis of Vaginal Ectopic Ureter Insertion\u2014Case Outcome and Literature Overview"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6106-816X","authenticated-orcid":false,"given":"Iulian Gabriel","family":"Goidescu","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8567-1246","authenticated-orcid":false,"given":"Georgiana","family":"Nemeti","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelina","family":"Staicu","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4922-3013","authenticated-orcid":false,"given":"Mihai","family":"Surcel","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cerasela Mihaela","family":"Goidescu","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Medical Clinic I\u2014Internal Medicine, Cardiology and Gastroenterology, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7700-2384","authenticated-orcid":false,"given":"Ioana Cristina","family":"Rotar","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheorghe","family":"Cruciat","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Muresan","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology I, Mother and Child Department, University of Medicine and Pharmacy \u201cIuliu Ha\u021bieganu\u201d, 400006 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ejmg.2005.02.003","article-title":"Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: An analysis of 709,030 births in 12 European countries","volume":"48","author":"Wiesel","year":"2005","journal-title":"Eur. 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