ArticleJournal of assisted reproduction and genetics2026
Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C.
Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeIs blastocyst-stage trophectoderm (TE) biopsy informative for preimplantation genetic testing of the mitochondrial DNA (mtDNA) variant m.14487 T > C (MT-ND6), by providing heteroplasmy estimates representative of the inner cell mass (ICM), within a combined PGT-A/PGT-mt workflow?
methodsSingle IVF/ICSI cycle study in one carrier woman; six blastocysts were obtained and underwent day 5-6 TE biopsy followed by combined PGT-A and targeted mtDNA heteroplasmy assessment.
resultsSix blastocysts underwent combined PGT-A/PGT-mt (day 5, n = 2; day 6, n = 4). PGT-A classified three embryos as euploid, two as aneuploid, and one as mosaic. PGT-mt showed a bimodal distribution of m.14487 T > C heteroplasmy: three embryos were < 18% (11.4-13.5%) and three were > 70% (73.2-99.6%); only one embryo met the predefined transfer criteria (euploid; 11.4% heteroplasmy). After warming and embryo fractionation, heteroplasmy estimates from the original TE biopsy and the corresponding post-warming embryo fraction (the remaining TE, ICM, or combined TE + ICM) were closely concordant, with only small paired differences.
conclusionThese findings provide variant-specific evidence that blastocyst TE biopsy can be representative of the ICM for m.14487 T > C, supporting combined PGT-A/PGT-mt at the blastocyst stage. Nevertheless, given the possibility of heteroplasmy shifts later in development, prenatal diagnosis and postnatal follow-up remain advisable when a heteroplasmic embryo is transferred.
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