Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays

作者：Treff Nathan R^*; Su Jing; Tao Xin; Levy Brynn; Scott Richard T

来源：Fertility and Sterility, 2010, 94(6): 2017-2021.

DOI：10.1016/j.fertnstert.2010.01.052

• Aneuploidy screening
• microarray
• preimplantation genetic diagnosis
• single cell
• single nucleotide polymorphism

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. (Fertil Steril (R) 2010;94:2017-21.

• 出版日期2010-11