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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD ty...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291192/ https://www.ncbi.nlm.nih.gov/pubmed/34297364 http://dx.doi.org/10.1111/cge.14031 |
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author | Vincenten, Sanne C. C. Van Der Stoep, Nienke Paulussen, Aimée D. C. Mul, Karlien Badrising, Umesh A. Kriek, Marjolein Van Der Heijden, Olivier W. H. Van Engelen, Baziel G. M. Voermans, Nicol C. De Die‐Smulders, Christine E. M. Lassche, Saskia |
author_facet | Vincenten, Sanne C. C. Van Der Stoep, Nienke Paulussen, Aimée D. C. Mul, Karlien Badrising, Umesh A. Kriek, Marjolein Van Der Heijden, Olivier W. H. Van Engelen, Baziel G. M. Voermans, Nicol C. De Die‐Smulders, Christine E. M. Lassche, Saskia |
author_sort | Vincenten, Sanne C. C. |
collection | PubMed |
description | Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1. Pregnancy and delivery outcomes in FSHD are usually favorable, but clinicians should be aware of the risks. We aim to provide clinicians with case‐based strategies for reproductive counseling in FSHD, as well as recommendations for pregnancy and delivery. |
format | Online Article Text |
id | pubmed-9291192 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Blackwell Publishing Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-92911922022-07-20 Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease Vincenten, Sanne C. C. Van Der Stoep, Nienke Paulussen, Aimée D. C. Mul, Karlien Badrising, Umesh A. Kriek, Marjolein Van Der Heijden, Olivier W. H. Van Engelen, Baziel G. M. Voermans, Nicol C. De Die‐Smulders, Christine E. M. Lassche, Saskia Clin Genet Reviews Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1. Pregnancy and delivery outcomes in FSHD are usually favorable, but clinicians should be aware of the risks. We aim to provide clinicians with case‐based strategies for reproductive counseling in FSHD, as well as recommendations for pregnancy and delivery. Blackwell Publishing Ltd 2021-08-01 2022-02 /pmc/articles/PMC9291192/ /pubmed/34297364 http://dx.doi.org/10.1111/cge.14031 Text en © 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Reviews Vincenten, Sanne C. C. Van Der Stoep, Nienke Paulussen, Aimée D. C. Mul, Karlien Badrising, Umesh A. Kriek, Marjolein Van Der Heijden, Olivier W. H. Van Engelen, Baziel G. M. Voermans, Nicol C. De Die‐Smulders, Christine E. M. Lassche, Saskia Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
title | Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
title_full | Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
title_fullStr | Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
title_full_unstemmed | Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
title_short | Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
title_sort | facioscapulohumeral muscular dystrophy—reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
topic | Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291192/ https://www.ncbi.nlm.nih.gov/pubmed/34297364 http://dx.doi.org/10.1111/cge.14031 |
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