ArticleOrphanet journal of rare diseases2025
The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.Journal of translational medicine · 2026Article
- Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis.The application of clinical genetics · 2026Article
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Abstract
backgroundFacioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35. Prenatal diagnosis of FSHD has been challenging due to the large quantity and high-quality DNA required for Southern blot (SB) analysis. Optical genome mapping (OGM) technology has shown promise in identifying repeat contraction disorders and presents a potential tool for the prenatal diagnosis of FSHD.
methodsIn this retrospective cohort study, we investigated the distribution of D4Z4 repeats in 100 unrelated healthy individuals from the Chinese Han population using peripheral blood samples and DLS labelling method. Additionally, prenatal diagnosis using OGM was performed in 12 FSHD families at Peking Union Medical College Hospital between January 2021 and December 2023. The prenatal samples included 2 amniotic cell cultures and 10 chorionic villus samples (CVS), with 9 labeled using DLS and 4 using NLRS method.
resultsAmong the 100 healthy controls, the distribution of D4Z4 repeats varied, with 3 individuals having borderline 10 repeat counts on 4qA, and the most frequent count being 14 units. One individual with mosaicism was also identified. In the cohort of 12 FSHD families,14 prenatal diagnoses were performed. Of these 14 cases, 4 fetuses tested positive for 4qA contraction, with repeat counts ranging from 2 to 4. In both families that underwent two rounds of prenatal diagnosis, the first diagnosis indicated the presence of FSHD, leading to pregnancy termination, while the second diagnosis confirmed the presence of healthy fetuses. The overall positive rate was 28.57%.
conclusionOur findings demonstrate that OGM is an accurate and effective method for the prenatal diagnosis of FSHD. The application of OGM in prenatal settings could offer significant benefits to families affected by FSHD with reproductive concerns.
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