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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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). |
format | Online Article Text |
id | pubmed-8700396 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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