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Updated: Jun 15, 2026
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide
Nathan R Treff1, Jing Su, Xin Tao
1Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA. ntreff@rmanj.com
Objective:
To develop and validate a whole genome amplification and single nucleotide polymorphism (SNP) microarray protocol for accurate single cell 24 chromosome aneuploidy screening.
Design:
Prospective, randomized, and blinded study.
Setting:
Academic reproductive medicine center.
Patient(S):
Multiple euploid and aneuploid cell lines were obtained from a public repository and blastomeres were obtained after biopsy of cleavage stage embryos from 78 patients undergoing IVF.
Main Outcome Measure(S):
Accuracy of copy number assignment and consistency of individual SNPs, whole chromosomes, and single cell aneuploidy status were determined.
Intervention(S):
None.
Result(S):
Single cells extracted from karyotypically defined cell lines provided 99.2% accuracy for individual SNPs, 99.8% accuracy for whole chromosomes, and 98.6% accuracy when applying a quality control threshold for the overall assignment of aneuploidy status. The concurrence for more than 80 million SNPs in 335 single blastomeres was 96.5%.
Conclusion(S):
We have established and validated a SNP microarray-based single cell aneuploidy screening technology. Clinical validation studies are underway to determine the predictive value of this methodology.
