PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Soloveva, Elena V.; Skleimova, Maria M.; Minaycheva, Larisa I.; Garaeva, Anna F.; Zhigalina, Daria I.; Churkin, Egor O.; Okkel, Yulia V.; Timofeeva, Oksana S.; Petrov, Ilya A.; Seitova, Gulnara N.; Lebedev, Igor N.; Stepanov, Vadim A.

doi:10.1007/s10815-024-03105-w

Cited by 2 publications

References 28 publications

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Current research status and clinical applications of noninvasive preimplantation genetic testing: A review

Yang,

Xu,

Zhuang

et al. 2024

Medicine

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Noninvasive preimplantation genetic testing (ni-PGT) is conducted by obtaining genetic information from embryos through the analysis of free DNA released by embryos in spent embryo culture medium or blastocoel fluid. Compared to conventional preimplantation genetic testing relying on trophectoderm biopsy, ni-PGT is characterized by its noninvasiveness. It has demonstrated early advancements in the detection of embryonic chromosomal aneuploidies and the diagnosis of monogenic diseases, showcasing considerable potential for clinical application. However, there are substantial controversies in the literature concerning the reliability of ni-PGT, the source of cell-free DNA, and maternal contamination. This paper elaborates on the principles, research advancements, effectiveness, and limitations of ni-PGT to provide a basis for clinical applications.

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Current research status and clinical applications of noninvasive preimplantation genetic testing: A review

Yang,

Xu,

Zhuang

et al. 2024

Medicine

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Precise Exome Analysis of Blastocyst Biopsy Scale Samples Using Primary Template-Directed Amplification

Samitova,

Belova,

Vasiliadis

et al. 2024

Preprint

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This study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) on small fibroblast cell groups, mimicking the limited cell quantities typical of trophectoderm embryo biopsies. PTA’s consistent amplification reduces allelic dropout (ADO) and impoves uniform coverage, overcoming challenges associated with conventional methods such as multiple displacement amplification (MDA). Using fibroblast samples alongside well-characterised genomic references (E701, NA12878), we benchmarked PTA-WES, achieving 97.5% target region coverage at 10x, meeting American College of Medical Genetics and Genomics (ACMG) standards. Preliminary results from embryo biopsies sequenced with PTA-WES showed a median coverage of 102x, significantly improving upon the variability and coverage gaps observed in MDA-WES. The findings support PTA’s potential to enhance the clinical applicability of WES for preimplantation genetic testing for monogenic disorders (PGT-M), expanding capabilities to detect inherited and de novo mutations in embryos. Further optimisation and variant detection analyses are planned to evaluate PTA’s robustness for routine clinical use.

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PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Cited by 2 publications

References 28 publications

Current research status and clinical applications of noninvasive preimplantation genetic testing: A review

Current research status and clinical applications of noninvasive preimplantation genetic testing: A review

Precise Exome Analysis of Blastocyst Biopsy Scale Samples Using Primary Template-Directed Amplification

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