Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease. Issue 2 (1st August 2021)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Clinical genetics. Volume 101:Issue 2(2022)
• Page Start: 149
• Page End: 160
• Publication Date: 2021-08-01
• Subjects: delivery -- facioscapulohumeral muscular dystrophy -- genetics -- pregnancy -- preimplantation genetic testing -- prenatal diagnosis; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14031
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract :