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Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13

Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of the first trimester screening results. Case des...

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Autores principales: Szymkiewicz-Dangel, Joanna, Hussey, Maria Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Exeley Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8678639/
https://www.ncbi.nlm.nih.gov/pubmed/34970448
http://dx.doi.org/10.15557/JoU.2021.0058
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author Szymkiewicz-Dangel, Joanna
Hussey, Maria Magdalena
author_facet Szymkiewicz-Dangel, Joanna
Hussey, Maria Magdalena
author_sort Szymkiewicz-Dangel, Joanna
collection PubMed
description Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of the first trimester screening results. Case description: The results of the first trimester screening tests were interpreted as normal, and invasive tests were not recommended. At 21 weeks, a bright spot in the left ventricle was noted, and fetal echocardiography was performed at 33 weeks. The scan showed a massive pericardial effusion and a pericardial tumor located in front of the right ventricle. Conclusions: The final diagnosis, made postnatally, revealed an atypical right-sided diaphragmatic hernia. Part of the liver was displaced to the pericardial cavity, mimicking a pericardial tumor in a baby with trisomy 13. Following the diagnosis of the lethal disorder, the baby was discharged under a home-based palliative care program and died on the 49(th) day of life.
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spelling pubmed-86786392021-12-29 Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13 Szymkiewicz-Dangel, Joanna Hussey, Maria Magdalena J Ultrason Medicine Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of the first trimester screening results. Case description: The results of the first trimester screening tests were interpreted as normal, and invasive tests were not recommended. At 21 weeks, a bright spot in the left ventricle was noted, and fetal echocardiography was performed at 33 weeks. The scan showed a massive pericardial effusion and a pericardial tumor located in front of the right ventricle. Conclusions: The final diagnosis, made postnatally, revealed an atypical right-sided diaphragmatic hernia. Part of the liver was displaced to the pericardial cavity, mimicking a pericardial tumor in a baby with trisomy 13. Following the diagnosis of the lethal disorder, the baby was discharged under a home-based palliative care program and died on the 49(th) day of life. Exeley Inc. 2021-11-29 2021-12-15 /pmc/articles/PMC8678639/ /pubmed/34970448 http://dx.doi.org/10.15557/JoU.2021.0058 Text en © Polish Ultrasound Society. Published by Medical Communications Sp. z o.o. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article licensed under the Creative Commons CC BY-NC-ND 4.0 license. https://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Medicine
Szymkiewicz-Dangel, Joanna
Hussey, Maria Magdalena
Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
title Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
title_full Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
title_fullStr Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
title_full_unstemmed Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
title_short Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
title_sort liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8678639/
https://www.ncbi.nlm.nih.gov/pubmed/34970448
http://dx.doi.org/10.15557/JoU.2021.0058
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