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Detection of Aneuploidies, Segmental Aneuploidies, and Mosaicism Using Ion ReproSeq Kits
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"Detection of Aneuploidies, Segmental Aneuploidies, and Mosaicism Using Ion ReproSeq Kits"

Preimplantation genetic testing for aneuploidies is a method designed to identify embryos with the correct complement of chromosomes, termed euploid.

Transfer of euploid embryos is more likely to result in a successful pregnancy than transfer of embryos with the incorrect number of chromosomes, termed aneuploid. A third embryo category, mosaic, has been defined for trophectoderm biopsies from blastocyst embryos. Mosaic embryos are mixtures of euploid and aneuploid cells, and the ratio of euploid to aneuploid cells can vary. The improved detection of mosaicism in biopsy samples by next-generation sequencing methods has raised active debate and ongoing research into the suitability of mosaic embryos for transfer. Several factors must be considered for embryos in this category, including the level of mosaicism, the chromosome involved, and whether mosaicism comprises the whole chromosome or just a segment.

This application note from Thermo Fisher Scientific describes performing aneuploidy analysis using Ion ReproSeq PGS Kits and the parameters within Ion Reporter Software that can be adjusted for improved mosaic and segmental copy number variation event calling.


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