De Novo Copy Number Variations (CNVs) in ESC Derived from Intact and ST Blastocysts

Because ST embryos may be at risk of procedure related chromosomal or sub-chromosomal abnormalities, we biopsied and examined expanded blastocysts derived from ST and control embryos. We examined copy number variations (CNVs) by SNP array to explore possible subchromosomal abnormalities (deletion or duplication) in selected ST ESCs. De novo CNVs were detected in both ST and intact controls but none carried clinical significance (Table S3 in the Supplementary Appendix). A total of twelve ESC lines were examined by microarray analysis using the Infinium Assay with the Illumina CytoSNP-850Kv1.1 BeadChip platform. This chip contains approximately 843,390 genome-wide markers, an overall average probe spacing of 1.8 kb and an average effective resolution of 18 kb to determine copy number change.