A workflow for simultaneous DNA copy number and methylome analysis of inner cell mass and trophectoderm cells from human blastocysts

ObjectiveTo establish a workflow for isolating single trophectoderm (TE) and inner cell mass (ICM) cells to simultaneously evaluate these copy number variation (CNV) as well methylome development.DesignExperimental.SettingAcademic medical center.Patient(s)Donated genetically abnormal blastocysts.Intervention(s)Single were isolated, followed by bisulfite conversion sequencing identify CNV profiles.Main Outcome Measure(s)CNV methylation profiling.Result(s)Two embryos dissociated, 46 cells, with 17 ICM 12 TE selected further downstream analysis. Chromosome ploidies embryo sex concordant the results from conventional aneuploidy testing. In 3 of 29 additional aneuploidies discovered, indicating possible mosaicism undetected routine preimplantation genetic testing aneuploidy. CpG frequency was higher in compared (44.3% vs. 32.4%), respectively, while non-CpG similar among both types. levels accurately distinguished epigenetically.Conclusion(s)We describe an effective human blastocysts. The use profiling can help distinguish two populations better then morphologic identification alone. had significantly lower DNA methylation, which may be explained part fact that have begun process differentiation are transcriptionally more active than ICM. This approach used explore complexities within embryos, specifically primary types seen at this stage development. To Experimental. Academic center. Donated Single profiles. profiling. Two epigenetically. We