Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Adult
Clinical Decision-Making
Diagnosis, Differential
Disease Management
Female
Genetic Association Studies
/ methods
Genetic Counseling
Genetic Predisposition to Disease
Genetic Testing
Humans
Male
Multifactorial Inheritance
Muscular Dystrophy, Facioscapulohumeral
/ diagnosis
Phenotype
Pregnancy
Pregnancy Complications
Pregnancy Outcome
Prenatal Diagnosis
Severity of Illness Index
delivery
facioscapulohumeral muscular dystrophy
genetics
pregnancy
preimplantation genetic testing
prenatal diagnosis
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
revised:
15
07
2021
received:
12
05
2021
accepted:
18
07
2021
pubmed:
24
7
2021
medline:
29
3
2022
entrez:
23
7
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34297364
doi: 10.1111/cge.14031
pmc: PMC9291192
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
149-160Subventions
Organisme : Prinses Beatrix Spierfonds
Informations de copyright
© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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