Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease,Clinical Genetics

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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-07-23 , DOI: 10.1111/cge.14031
Sanne C C Vincenten ₁ , Nienke Van Der Stoep ₂ , Aimée D C Paulussen ₃ , Karlien Mul ₁ , Umesh A Badrising ₄ , Marjolein Kriek ₂ , Olivier W H Van Der Heijden ₅ , Baziel G M Van Engelen ₁ , Nicol C Voermans ₁ , Christine E M De Die-Smulders ₃ , Saskia Lassche _{1,

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Affiliation

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.

中文翻译：

面肩肱型肌营养不良症——复杂多基因疾病的生殖咨询、妊娠和分娩

由于面肩肱型肌营养不良症 (FSHD) 潜在遗传机制的复杂性以及该疾病的不完全外显率，其生殖咨询可能具有挑战性。充分了解两种不同 FSHD 类型的遗传原因和潜在遗传模式至关重要：FSHD1 是一种常染色体显性遗传重复疾病，而 FSHD2 是一种双基因疾病。由于 FSHD1 可提供产前诊断和植入前遗传学诊断选项，这一点变得更加重要。 FSHD 的妊娠和分娩结果通常是有利的，但临床医生应该意识到风险。我们的目标是为临床医生提供基于病例的 FSHD 生殖咨询策略，以及妊娠和分娩建议。

更新日期：2021-07-23

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