title: Origins and rates of aneuploidy in human blastomeres.
abstract: OBJECTIVE
  To characterize chromosomal error types and parental origin of aneuploidy in cleavage-stage embryos using an informatics-based technique that enables the elucidation of aneuploidy-causing mechanisms.
  
  
  METHODS
  Analysis of blastomeres biopsied from cleavage-stage embryos for preimplantation genetic screening during IVF.
  
  
  METHODS
  Laboratory.
  
  
  METHODS
  Couples undergoing IVF treatment.
  
  
  METHODS
  Two hundred seventy-four blastomeres were subjected to array-based genotyping and informatics-based techniques to characterize chromosomal error types and parental origin of aneuploidy across all 24 chromosomes.
  
  
  METHODS
  Chromosomal error types (monosomy vs. trisomy; mitotic vs. meiotic) and parental origin (maternal vs. paternal).
  
  
  RESULTS
  The rate of maternal meiotic trisomy rose significantly with age, whereas other types of trisomy showed no correlation with age. Trisomies were mostly maternal in origin, whereas paternal and maternal monosomies were roughly equal in frequency. No examples of paternal meiotic trisomy were observed. Segmental error rates were found to be independent of maternal age.
  
  
  CONCLUSIONS
  All types of aneuploidy that rose with increasing maternal age can be attributed to disjunction errors during meiosis of the oocyte. Chromosome gains were predominantly maternal in origin and occurred during meiosis, whereas chromosome losses were not biased in terms of parental origin of the chromosome. The ability to determine the parental origin for each chromosome, as well as being able to detect whether multiple homologs from a single parent were present, allowed greater insights into the origin of aneuploidy.
authors.affiliation: Natera Inc., Gene Security Network, Inc., Redwood City, California, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Rabinowitz
authors.forename: Allison
authors.initials: A
authors.lastname: Ryan
authors.forename: George
authors.initials: G
authors.lastname: Gemelos
authors.forename: Matthew
authors.initials: M
authors.lastname: Hill
authors.forename: Johan
authors.initials: J
authors.lastname: Baner
authors.forename: Cengiz
authors.initials: C
authors.lastname: Cinnioglu
authors.forename: Milena
authors.initials: M
authors.lastname: Banjevic
authors.forename: Dan
authors.initials: D
authors.lastname: Potter
authors.forename: Dmitri A
authors.initials: DA
authors.lastname: Petrov
authors.forename: Zachary
authors.initials: Z
authors.lastname: Demko
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001757:Blastomeres / Q000473:pathology*; D002869:Chromosome Aberrations; D046149:Embryo Culture Techniques; D005220:Fathers; D005260:Female; D005307:Fertilization in Vitro; D020022:Genetic Predisposition to Disease; D006801:Humans; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D008540:Meiosis / Q000235:genetics; D008875:Middle Aged; D008938:Mitosis / Q000235:genetics; D009030:Mosaicism; D009035:Mothers; D019836:Preimplantation Diagnosis; D018570:Risk Assessment; D012307:Risk Factors