Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

S.C.C. Vincenten; N. Van der Stoep; A.D.C. Paulussen; K. Mul; U.A. Badrising; M. Kriek; O.W.H. Van der Heijden; B.G.M. Van Engelen; N.C. Voermans; C.E.M. De Die-Smulders; S. Lassche

doi:10.1111/cge.14031

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

S.C.C. Vincenten^*, N. Van der Stoep, A.D.C. Paulussen, K. Mul, U.A. Badrising, M. Kriek, O.W.H. Van der Heijden, B.G.M. Van Engelen, N.C. Voermans, C.E.M. De Die-Smulders, S. Lassche

^*Corresponding author for this work

Research output: Contribution to journal › (Systematic) Review article › peer-review

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.

Original language	English
Pages (from-to)	149-160
Number of pages	12
Journal	Clinical Genetics
Volume	101
Issue number	2
Early online date	1 Aug 2021
DOIs	https://doi.org/10.1111/cge.14031
Publication status	Published - Feb 2022

Keywords

delivery
facioscapulohumeral muscular dystrophy
genetics
pregnancy
preimplantation genetic testing
prenatal diagnosis
NEUROMUSCULAR DISORDERS
SOMATIC MOSAICISM
D4Z4 REPEAT
FSHD
DIAGNOSIS
WOMEN
REARRANGEMENTS
PHENOTYPE
SMCHD1
REGION

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10.1111/cge.14031Licence: CC BY-NC-ND

Cite this

Vincenten, S. C. C., Van der Stoep, N., Paulussen, A. D. C., Mul, K., Badrising, U. A., Kriek, M., Van der Heijden, O. W. H., Van Engelen, B. G. M., Voermans, N. C., De Die-Smulders, C. E. M., & Lassche, S. (2022). Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease. Clinical Genetics, 101(2), 149-160. https://doi.org/10.1111/cge.14031

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title = "Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease",

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.",

keywords = "delivery, facioscapulohumeral muscular dystrophy, genetics, pregnancy, preimplantation genetic testing, prenatal diagnosis, NEUROMUSCULAR DISORDERS, SOMATIC MOSAICISM, D4Z4 REPEAT, FSHD, DIAGNOSIS, WOMEN, REARRANGEMENTS, PHENOTYPE, SMCHD1, REGION",

author = "S.C.C. Vincenten and {Van der Stoep}, N. and A.D.C. Paulussen and K. Mul and U.A. Badrising and M. Kriek and {Van der Heijden}, O.W.H. and {Van Engelen}, B.G.M. and N.C. Voermans and {De Die-Smulders}, C.E.M. and S. Lassche",

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Vincenten, SCC, Van der Stoep, N, Paulussen, ADC, Mul, K, Badrising, UA, Kriek, M, Van der Heijden, OWH, Van Engelen, BGM, Voermans, NC, De Die-Smulders, CEM & Lassche, S 2022, 'Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease', Clinical Genetics, vol. 101, no. 2, pp. 149-160. https://doi.org/10.1111/cge.14031

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T1 - Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

AU - Vincenten, S.C.C.

AU - Van der Stoep, N.

AU - Paulussen, A.D.C.

AU - Mul, K.

AU - Badrising, U.A.

AU - Kriek, M.

AU - Van der Heijden, O.W.H.

AU - Van Engelen, B.G.M.

AU - Voermans, N.C.

AU - De Die-Smulders, C.E.M.

AU - Lassche, S.

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AB - 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.

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KW - WOMEN

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KW - PHENOTYPE

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KW - REGION

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DO - 10.1111/cge.14031

M3 - (Systematic) Review article

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