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Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy
In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10008448/ https://www.ncbi.nlm.nih.gov/pubmed/36919071 http://dx.doi.org/10.7759/cureus.34841 |
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author | Tsagkas, Nikolaos Katsanevakis, Emmanouil Karagioti, Natalia Perdikaris, Panagiotis Billis, Michail |
author_facet | Tsagkas, Nikolaos Katsanevakis, Emmanouil Karagioti, Natalia Perdikaris, Panagiotis Billis, Michail |
author_sort | Tsagkas, Nikolaos |
collection | PubMed |
description | In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at 17 weeks of gestation. This led to the diagnosis of WBS by molecular karyotyping, specifically array comparative genomic hybridization (arrayCGH) of the fetal DNA. The genetic material was acquired by extraction from the fetal cells which are abundant in the amniotic fluid drawn by amniocentesis. Clinical hypotonia of the affected individuals is a clinical characteristic that is widely associated with WBS; however, fetal hypotonia has not been described as a diagnostic criterion for the prenatal diagnosis of WBS. |
format | Online Article Text |
id | pubmed-10008448 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-100084482023-03-13 Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy Tsagkas, Nikolaos Katsanevakis, Emmanouil Karagioti, Natalia Perdikaris, Panagiotis Billis, Michail Cureus Genetics In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at 17 weeks of gestation. This led to the diagnosis of WBS by molecular karyotyping, specifically array comparative genomic hybridization (arrayCGH) of the fetal DNA. The genetic material was acquired by extraction from the fetal cells which are abundant in the amniotic fluid drawn by amniocentesis. Clinical hypotonia of the affected individuals is a clinical characteristic that is widely associated with WBS; however, fetal hypotonia has not been described as a diagnostic criterion for the prenatal diagnosis of WBS. Cureus 2023-02-10 /pmc/articles/PMC10008448/ /pubmed/36919071 http://dx.doi.org/10.7759/cureus.34841 Text en Copyright © 2023, Tsagkas et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Tsagkas, Nikolaos Katsanevakis, Emmanouil Karagioti, Natalia Perdikaris, Panagiotis Billis, Michail Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy |
title | Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy |
title_full | Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy |
title_fullStr | Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy |
title_full_unstemmed | Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy |
title_short | Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy |
title_sort | prenatal diagnosis of williams-beuren syndrome based on suspected fetal hypotonia in early pregnancy |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10008448/ https://www.ncbi.nlm.nih.gov/pubmed/36919071 http://dx.doi.org/10.7759/cureus.34841 |
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