ArticleJournal of assisted reproduction and genetics2025
Assessing the efficacy of targeted enrichment protocol in PGT-M applications: a comprehensive analysis.
Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disorders.Orphanet journal of rare diseases · 2026Article
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10 authors.
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Abstract
purposeThe aim of this study is to assess whether the Targeted Sequence Enrichment (TSE) protocol improves the efficiency of Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) by reducing allele dropout (ADO) rates.
methodsThis retrospective data analysis included 928 patients and compared ADO rates across three different PGT-M approaches: (1) conventional targeted STR-based Single Cell Multiplex Nested PCR (PGT-M_Only), (2) Whole Genome Amplification (WGA)-based PGT-M method used in combined applications (WGA + PGT-M), and (3) WGA-bas. ed TSE method implemented for combined PGT-M applications. While the majority of cases involved single-gene disorders, some cases included testing for two, three, or four genes.
resultsADO rates were comparable between the TSE group and the PGT-M_Only group (1.01% and 0.80%, respectively). However, the conventional WGA-based PGT-M approach, lacking targeted enrichment, exhibited a significantly higher ADO rate of 4.76%, approximately five times greater. The complexity of the test, in terms of the number of genes analyzed per case, did not significantly influence ADO rates.
conclusionConventional WGA-based PGT-M methods using STR markers are associated with substantially higher ADO rates compared to the STR-based method with direct PCR from lysed single cells. The TSE protocol significantly reduces ADO, increases test sensitivity, and allows for simultaneous PGT-A and PGT-M analysis from a single WGA sample.
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