ArticleJournal of assisted reproduction and genetics2021
Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.Journal of translational medicine · 2026Article
- Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy.Scientific reports · 2025Article
- Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.Journal of assisted reproduction and genetics · 2025Article
- Review
- Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.Journal of human genetics · 2023Article
- Cerebral folate deficiency: A report of two affected siblings.Molecular genetics and metabolism reports · 2023Article
- Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).Frontiers in reproductive health · 2023Review
- A novel splicing mutation identified in a DMD patient: a case report.Frontiers in pediatrics · 2023Article
- Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing.International journal of molecular sciences · 2022Review
- Comprehensive Molecular Analysis ofDiagnostics (Basel, Switzerland) · 2021Article
- Uncovering the Embryonic Origins of Duchenne Muscular Dystrophy.WIREs mechanisms of diseaseArticle
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo determine whether next-generation sequencing (NGS) could be used to directly detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation genetic testing (PGT).
methodsFrom Sep. 2016 to Aug. 2018, a total of six couples participated in this study. Four cases carried DMD exon deletions and two carried exon duplications. Trophectoderm cells were biopsied at day 5 or 6 and NGS was used in the genetic testing of the biopsied cells after whole-genome amplification. We developed a new method-DIRected Embryonic Cell Testing of Exon Deletion/Duplication (DIRECTED) to directly detect the single-gene mutation by NGS. Linage analysis based on single-nucleotide polymorphism (SNP) was used to validate the results from DIRECTED.
resultsIn the four deletion cases, DIRECTED was used to detect DMD exon deletion in 16 biopsied embryos. All DIRECTED results were consistent with linkage analysis, indicating this method was reliable in detecting deletions around 1 Mb. In the two cases carrying exon duplications, no blastocyst was obtained for biopsy. Nonetheless, preliminary experiment results suggested that DIRECTED could also be used for direct detection of exon duplications in embryos.
conclusionsExon deletions or duplications in DMD of preimplantation embryos could be detected directly by NGS-based methods during PGT.
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