title: Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays.
abstract: OBJECTIVE
  To develop and validate a whole genome amplification and single nucleotide polymorphism (SNP) microarray protocol for accurate single cell 24 chromosome aneuploidy screening.
  
  
  METHODS
  Prospective, randomized, and blinded study.
  
  
  METHODS
  Academic reproductive medicine center.
  
  
  METHODS
  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.
  
  
  METHODS
  Accuracy of copy number assignment and consistency of individual SNPs, whole chromosomes, and single cell aneuploidy status were determined.
  
  
  METHODS
  None.
  
  
  RESULTS
  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%.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA. ntreff@rmanj.com
authors.forename: Nathan R
authors.initials: NR
authors.lastname: Treff
authors.forename: Jing
authors.initials: J
authors.lastname: Su
authors.forename: Xin
authors.initials: X
authors.lastname: Tao
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
authors.forename: Richard T
authors.initials: RT
authors.lastname: Scott
mesh_terms: D000782:Aneuploidy; D002460:Cell Line; D002877:Chromosomes, Human; D002970:Cleavage Stage, Ovum / Q000166:cytology / Q000378:metabolism; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D016678:Genome / Q000235:genetics; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods; D015203:Reproducibility of Results