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. 2023 Jun 15;23(1):447.
doi: 10.1186/s12884-023-05760-w.

Mitochondrial DNA quantification correlates with the developmental potential of human euploid blastocysts but not with that of mosaic blastocysts

Wen Luo  1   2 , Yi-Min Zheng  1   3 , Yan Hao  1   2 , Ying Zhang  1 , Ping Zhou  1   2   3 , Zhaolian Wei  1   2   3 , Yunxia Cao  4   5   6 , Dawei Chen  7   8
Affiliations

Mitochondrial DNA quantification correlates with the developmental potential of human euploid blastocysts but not with that of mosaic blastocysts

Wen Luo et al. BMC Pregnancy Childbirth. .

Abstract

Purpose: We aimed to study the association between adjusted mtDNA levels in human trophectoderm biopsy samples and the developmental potential of euploid and mosaic blastocysts.

Methods: We analyzed relative mtDNA levels in 2,814 blastocysts obtained from 576 couples undergoing preimplantation genetic testing for aneuploidy from June 2018 to June 2021. All patients underwent in vitro fertilization in a single clinic; the study was blinded-mtDNA content was unknown at the time of single embryo transfer. The fate of the euploid or mosaic embryos transferred was compared with mtDNA levels.

Results: Euploid embryos had lower mtDNA than aneuploid and mosaic embryos. Embryos biopsied on Day 5 had higher mtDNA than those biopsied on Day 6. No difference was detected in mtDNA scores between embryos derived from oocytes of different maternal ages. Linear mixed model suggested that blastulation rate was associated with mtDNA score. Moreover, the specific next-generation sequencing platform used have a significant effect on the observed mtDNA content. Euploid embryos with higher mtDNA content presented significantly higher miscarriage rates and lower live birth rates, while no significant difference was observed in the mosaic cohort.

Conclusion: Our results will aid in improving methods for analyzing the association between mtDNA level and blastocyst viability.

Keywords: Blastocyst; Embryo viability; Mitochondrial genome; Mitochondrion; Preimplantation genetic testing; mtDNA quantification.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Distribution of mitochondrial DNA scores in trophectoderm of human blastocysts measured using next-generation sequencing on Illumina NextSeq550 platform (a) and semi-conduct Proton platform (b)
Fig. 2
Fig. 2
Mitochondrial DNA scores sorted by blastocyst ploidy result in statistically significant differences. a Next-generation sequencing data from Illumina NextSeq550 platform. b Next-generation sequencing data from semi-conduct Proton platform
Fig. 3
Fig. 3
Mitochondrial DNA scores sorted by biopsy day result in statistically significant differences. a Next-generation sequencing data from Illumina NextSeq550 platform. b Next-generation sequencing data from semi-conduct Proton platform
Fig. 4
Fig. 4
Mitochondrial DNA scores of blastocysts sorted by maternal age at the time of oocyte retrieval. Euploid (a), Mosaic (b) and Aneuploid (c) embryos measured using next-generation sequencing on Illumina NextSeq550 platform. Euploid (d), Mosaic (e) and Aneuploid (f) embryos measured using next-generation sequencing on semi-conduct Proton platform. Linear regression analysis results in statistically insignificant P values in all cohorts
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