{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:37:52Z","timestamp":1760236672078,"version":"build-2065373602"},"reference-count":10,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"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>An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion).<\/jats:p>","DOI":"10.3390\/diagnostics11122332","type":"journal-article","created":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T01:28:11Z","timestamp":1639358891000},"page":"2332","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region"],"prefix":"10.3390","volume":"11","author":[{"given":"Alexandra","family":"Bouariu","sequence":"first","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Maria","family":"Scutelnicu","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca Marina","family":"Ciobanu","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Br\u00eendu\u0219a Ana","family":"Cimpoca Raptis","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea Elena","family":"Dumitru","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florina","family":"Nedelea","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Human Genetics, Clinical Hospital Filantropia Bucharest, 011117 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8425-6307","authenticated-orcid":false,"given":"Nicolae","family":"Gic\u0103","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9213-6735","authenticated-orcid":false,"given":"Anca Maria","family":"Panaitescu","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2091","DOI":"10.1080\/14767058.2017.1336220","article-title":"The first trimester combined test for aneuploidies\u2014A single center experience","volume":"31","author":"Veduta","year":"2017","journal-title":"J. Matern. Neonatal Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1002\/jum.14561","article-title":"Diagnosis of Fetal Structural Anomalies at 11 to 14 Weeks","volume":"37","author":"Vayna","year":"2018","journal-title":"J. Ultrasound Med."},{"key":"ref_3","unstructured":"Walsh, P., Retik, A., Vaughan, E.D., Wein, A.J., Kavoussi, L.R., and Novick, A.C. (2002). Other bladder anomalies. Campbell\u2019s Urology, Saunders. [8th ed.]."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1148\/radiographics.21.2.g01mr02451","article-title":"Urachal remnant disease: Spectrum of CT and US findings","volume":"21","author":"Yu","year":"2001","journal-title":"Radiographics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1055\/s-0035-1546753","article-title":"Prenatal and Postnatal Clinical Course of an Urachus Identified as an Allantoic Cyst in the Umbilical Cord","volume":"26","author":"Umeda","year":"2016","journal-title":"Eur. J. Pediatr. Surg."},{"key":"ref_6","first-page":"93","article-title":"1q21.1 Recurrent Microdeletion","volume":"8","author":"Jewett","year":"2015","journal-title":"GeneReviews"},{"key":"ref_7","first-page":"359","article-title":"1q21.1 microdeletions","volume":"16","author":"Mefford","year":"2014","journal-title":"Unique"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1002\/pd.4702","article-title":"Prenatal vesico-allantoic cyst outcome\u2014A spectrum from patent urachus to bladder exstrophy","volume":"35","author":"Riddell","year":"2015","journal-title":"Prenat. Diagn."},{"key":"ref_9","unstructured":"Morichon-Delvallez, N. (2021, October 26). 1q21.1 Microdeletion Syndrome. March 2011. Available online: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&Expert=250989."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1750-1172-6-54","article-title":"Understanding the impact of 1q21.1 copy number variant","volume":"8","author":"Harvard","year":"2011","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/12\/2332\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:45:27Z","timestamp":1760168727000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/12\/2332"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,11]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["diagnostics11122332"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics11122332","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2021,12,11]]}}}