Although the mtDNA content shows some association to the morphologic grade of an embryo, this association does not persist in an analysis of only euploid embryos. Mitochondrial DNA content also does not appear to be associated with implantation or ongoing pregnancy. Day 5 blastocysts have significantly higher mtDNA content compared to day 6 blastocysts.
The data was then transferred to an Ion Reporter Server for comprehensive data analysis and interpretation. The PGM sequencing provided over 3.6 million reads with a median sequencing fragment length of 176 bp. RESULTS: PGS results from 10,801 embryos were reviewed, 3.9% (421 / 10,801) of embryos were euploid but included a clinically significant del or dup. These dels or dups ranged in size from approximately 800kb to 139Mb. The range for deletions was 800kb to 90.7Mb and the range for duplications was between 1.2Mb and 139Mb. Upon detailed molecular analysis of genes located within these deleted or duplicated regions, a potentially significant phenotype was observed in 2.9% (313 / 10,801) of samples analyzed CONCLUSIONS: Our results indicate that using an enhanced NGS technology, approximately 2.9% of euploid embryos contain clinically significant dels or dups and should not optimally be considered for transfer.
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