mtDNA dynamics between cleavage-stage embryos and blastocysts

J Assist Reprod Genet. 2019 Sep;36(9):1867-1875. doi: 10.1007/s10815-019-01544-4. Epub 2019 Aug 7.


Purpose: The aim was to evaluate mtDNA content and its dynamics in euploid and aneuploid embryos from cleavage to blastocyst stage following consecutive biopsies. The effect of female age on mtDNA content was evaluated by comparing reproductively younger (≤ 37 years) with older (> 37 years) women.

Methods: A retrospective single-centre descriptive study was performed between August 2016 and January 2017. Forty patients, with 112 embryos, undergoing preimplantation genetic testing for aneuploidies (PGT-A) by next-generation sequencing (NGS) were included. Embryos that reached the blastocyst stage and were not selected for fresh embryo transfer were included following consecutive biopsies of a single blastomere on day 3 and trophectoderm biopsy of day 5 blastocysts.

Results: Cleavage-stage mtDNA was significantly lower in fast cleaving embryos (p = 0.016). Based on the concordance between day 3 and day 5 biopsies, a difference was identified in blastocyst mtDNA content between groups (p = 0.019); true euploid blastocysts presented a lower mtDNA content. No association was identified between cleavage-stage mtDNA content and ploidy status (OR 1.008 [0.981-1.036], p = 0.565) nor between blastocyst mtDNA content and ploidy outcome (OR 0.954 [0.898-1.014], p = 0.129). No difference was found when comparing mtDNA content and ploidy outcome between the two reproductive age groups (p = 0.505 (cleavage stage) and p = 0.774 (blastocyst)).

Conclusion: Mitochondrial DNA content of cleavage-stage embryos and blastocysts is unable to predict ploidy status. Subgroup analysis based on ploidy concordance between day 3 and day 5 revealed a significantly lower mtDNA content for true euploid blastocysts. Reproductive ageing does not affect mtDNA content.

Keywords: Blastocyst; Cleavage-stage embryo; NGS; PGT-A; mtDNA.

MeSH terms

  • Adult
  • Aneuploidy
  • Blastocyst / cytology
  • Blastocyst / physiology*
  • Blastomeres / cytology
  • Blastomeres / physiology*
  • DNA, Mitochondrial / genetics*
  • Embryo Implantation / genetics*
  • Embryo Transfer
  • Female
  • Humans
  • Maternal Age*
  • Middle Aged
  • Ploidies*
  • Pregnancy
  • Retrospective Studies
  • Young Adult


  • DNA, Mitochondrial

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