Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
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
_version_ 1784749087550078976
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
work_keys_str_mv AT vincentensannecc facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT vanderstoepnienke facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT paulussenaimeedc facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT mulkarlien facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT badrisingumesha facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT kriekmarjolein facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT vanderheijdenolivierwh facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT vanengelenbazielgm facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT voermansnicolc facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT dediesmulderschristineem facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease
AT lasschesaskia facioscapulohumeralmusculardystrophyreproductivecounselingpregnancyanddeliveryinacomplexmultigeneticdisease