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A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region

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...

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Autores principales: Bouariu, Alexandra, Scutelnicu, Ana Maria, Ciobanu, Anca Marina, Cimpoca Raptis, Brîndușa Ana, Dumitru, Andreea Elena, Nedelea, Florina, Gică, Nicolae, Panaitescu, Anca Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700396/
https://www.ncbi.nlm.nih.gov/pubmed/34943569
http://dx.doi.org/10.3390/diagnostics11122332
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author Bouariu, Alexandra
Scutelnicu, Ana Maria
Ciobanu, Anca Marina
Cimpoca Raptis, Brîndușa Ana
Dumitru, Andreea Elena
Nedelea, Florina
Gică, Nicolae
Panaitescu, Anca Maria
author_facet Bouariu, Alexandra
Scutelnicu, Ana Maria
Ciobanu, Anca Marina
Cimpoca Raptis, Brîndușa Ana
Dumitru, Andreea Elena
Nedelea, Florina
Gică, Nicolae
Panaitescu, Anca Maria
author_sort Bouariu, Alexandra
collection PubMed
description 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).
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spelling pubmed-87003962021-12-24 A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region Bouariu, Alexandra Scutelnicu, Ana Maria Ciobanu, Anca Marina Cimpoca Raptis, Brîndușa Ana Dumitru, Andreea Elena Nedelea, Florina Gică, Nicolae Panaitescu, Anca Maria Diagnostics (Basel) Interesting Images 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). MDPI 2021-12-11 /pmc/articles/PMC8700396/ /pubmed/34943569 http://dx.doi.org/10.3390/diagnostics11122332 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Interesting Images
Bouariu, Alexandra
Scutelnicu, Ana Maria
Ciobanu, Anca Marina
Cimpoca Raptis, Brîndușa Ana
Dumitru, Andreea Elena
Nedelea, Florina
Gică, Nicolae
Panaitescu, Anca Maria
A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
title A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
title_full A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
title_fullStr A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
title_full_unstemmed A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
title_short A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
title_sort rare case of allantoic cyst with patent urachus in fetus with a microdeletion in 1q21.1q21.2 region
topic Interesting Images
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700396/
https://www.ncbi.nlm.nih.gov/pubmed/34943569
http://dx.doi.org/10.3390/diagnostics11122332
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