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

Vincenten, Sanne C. C.; Stoep, Nienke van der; Paulussen, Aimée D C; Mul, Karlien; Badrising, Umesh A.; Kriek, Marjolein; Heijden, Olivier W.H. van der; Engelen, B.G.M. van; Voermans, Nicol C.; Die-Smulders, C.E.M. de; Lassche, Saskia

doi:10.1111/cge.14031

Cited by 9 publications

(3 citation statements)

References 53 publications

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“…Direct next generation sequencing is not appropriate for detecting large repeat array because of its short-read nature. Southern blot is a traditional method to diagnose FSHD1 by measuring the length of D4Z4 array and estimating the number of repeats, although it is process-complicated, labor- and time-intensive ( Deidda et al, 1996 ; Ehrlich et al, 2006 ; Vincenten et al, 2022 ). Third generation sequencing is qualified for molecular diagnosis of FSHD1 in advantage of its ultra-long read ( Morioka et al, 2016 ; Mitsuhashi et al, 2017 ), however, it requires high molecular weight DNA.…”

Section: Discussionmentioning

confidence: 99%

“…A method, combination Bionano optical mapping (BOM) and karyomapping, has been proved to greatly improve the efficiency of invasive prenatal testing for FSHD1 ( Zheng et al, 2020 ). However, there is a small risk of miscarriage and infection still cannot be absolutely avoided ( Salomon et al, 2019 ; Vincenten et al, 2022 ). The application of cell-free fetal (cffDNA) analysis of maternal plasma in noninvasive prenatal diagnosis (NIPD) can avoid the risk of miscarriage and infection caused by chorionic villus biopsy and amniocentesis.…”

Section: Introductionmentioning

confidence: 99%

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A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Qin

Yang

et al. 2022

Front. Genet.

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Objective: To demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy type 1 (FSHD1).Methods: Bionano optical mapping was used to identify the D4Z4 structural variation of the genomic DNA sample from the proband affected with FSHD1. In addition, based on the technique of next generation sequencing, the pathogenic haplotype was determined by using trio strategy through genotyping his parents, and also fetal inheritance of paternal haplotypes was then deduced using the Hidden Markov Model.Results: Bionano optical mapping analysis revealed that the proband has only three D4Z4 repeats left in the 4q35 chromosomal region and a disease-permitting 4qA haplotype. The other normal allele of the proband contains 29 D4Z4 repeats and also a 4qA haplotype. The noninvasive cell-free fetal DNA (cffDNA)-based haplotype analysis suggested that the fetus inherited the pathogenic allele from his father and thus was predicted to be affected by FSHD1. In addition, Bionano optical mapping also demonstrated the presence of the pathogenic allele in the fetus by interrogating the genomic DNA from the amniotic fluid cells.Conclusion: Our study showed the cffDNA-based haplotyping was feasible for the noninvasive prenatal diagnosis of FSHD1, which is able to provide earlier testing results with a lower risk of miscarriage and infection than invasive techniques.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Qin

Yang

et al. 2022

Front. Genet.

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“…A discussion of these and other issues with a gynecologist at a preconception clinic should be considered. This is discussed in a recent review by Vincenten et al 47 …”

Section: Prenatal Testing and Pre‐implantation Genetic Testingmentioning

confidence: 95%

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Giardina,

Camaño,

Burton‐Jones

et al. 2024

Clinical Genetics

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The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers. The working group additionally invited genetic and clinical experts from the USA, India, Japan, Australia, South‐Africa, and Brazil to provide a global perspective. Six virtual meetings were organized to reach consensus on the minimal requirements for genetic confirmation of FSHD1 and FSHD2. Here, we present the clinical and genetic features of FSHD, specific features of FSHD1 and FSHD2, pros and cons of established and new technologies (Southern blot in combination with either linear or pulsed‐field gel electrophoresis, molecular combing, optical genome mapping, FSHD2 methylation analysis and FSHD2 genotyping), the possibilities and challenges of prenatal testing, including pre‐implantation genetic testing, and the minimal requirements and recommendations for genetic confirmation of FSHD1 and FSHD2. This consensus is expected to contribute to current clinical management and trial‐readiness for FSHD.

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French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

Attarian,

Beloribi-Djefaflia,

Bernard

et al. 2024

J Neurol

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

Cited by 9 publications

References 53 publications

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

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