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Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
- Source :
-
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 149-160. Date of Electronic Publication: 2021 Aug 01. - Publication Year :
- 2022
-
Abstract
- 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.<br /> (© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
- Subjects :
- Adult
Clinical Decision-Making
Diagnosis, Differential
Disease Management
Female
Genetic Testing
Humans
Male
Multifactorial Inheritance
Phenotype
Pregnancy
Pregnancy Complications
Pregnancy Outcome
Prenatal Diagnosis
Severity of Illness Index
Genetic Association Studies methods
Genetic Counseling
Genetic Predisposition to Disease
Muscular Dystrophy, Facioscapulohumeral diagnosis
Muscular Dystrophy, Facioscapulohumeral genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 101
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 34297364
- Full Text :
- https://doi.org/10.1111/cge.14031