title: Simultaneous assessment of aneuploidy, polymorphisms, and mitochondrial DNA content in human polar bodies and embryos with the use of a novel microarray platform.
abstract: OBJECTIVE
  To develop a microarray platform that allows simultaneous assessment of aneuploidy and quantification of mitochondrial DNA (mtDNA) in human polar bodies and embryos.
  
  
  METHODS
  Optimization and validation applied to cell lines and clinical samples (polar bodies, blastomeres, and trophectoderm biopsies).
  
  
  METHODS
  University research laboratory and a preimplantation genetic diagnosis (PGD) reference laboratory.
  
  
  METHODS
  Samples from 65 couples who underwent PGD for aneuploidy and/or a single-gene disorder.
  
  
  METHODS
  None.
  
  
  METHODS
  1) Comparison of aneuploidy screening results obtained with the use of the new microarray with those derived from two well established cytogenetic techniques. 2) mtDNA quantification. 3) Analysis of single-nucleotide polymorphisms.
  
  
  RESULTS
  The fully optimized microarray was estimated to have an accuracy of ≥97% for the detection of individual aneuploidies and to detect 99% of chromosomally abnormal embryos. The microarray was shown to accurately determine relative quantities of mtDNA. Information provided from polymorphic loci was sufficient to allow confirmation that an embryo was derived from specific parents.
  
  
  CONCLUSIONS
  It is hoped that methods such as those reported here, which provide information on several aspects of oocyte/embryo genetics, could lead to improved strategies for identifying viable embryos, thereby increasing the likelihood of successful implantation. Additionally, the provision of genotyping information has the potential to reveal DNA contaminants and confirm parental origin of embryos.
authors.affiliation: Reprogenetics UK, Oxford, United Kingdom.
authors.forename: Michalis
authors.initials: M
authors.lastname: Konstantinidis
authors.affiliation: Reprogenetics UK, Oxford, United Kingdom.
authors.forename: Samer
authors.initials: S
authors.lastname: Alfarawati
authors.affiliation: Oxford Gene Technology, Oxford, United Kingdom.
authors.forename: Douglas
authors.initials: D
authors.lastname: Hurd
authors.affiliation: Oxford Gene Technology, Oxford, United Kingdom.
authors.forename: Marta
authors.initials: M
authors.lastname: Paolucci
authors.affiliation: Oxford Gene Technology, Oxford, United Kingdom.
authors.forename: John
authors.initials: J
authors.lastname: Shovelton
authors.affiliation: Reprogenetics UK, Oxford, United Kingdom; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom.
authors.forename: Elpida
authors.initials: E
authors.lastname: Fragouli
authors.affiliation: Reprogenetics UK, Oxford, United Kingdom; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom. Electronic address: dagan.wells@obs-gyn.ox.ac.uk.
authors.forename: Dagan
authors.initials: D
authors.lastname: Wells
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001755:Blastocyst / Q000502:physiology*; D004252:DNA Mutational Analysis / Q000295:instrumentation; D004272:DNA, Mitochondrial / Q000235:genetics*; D004867:Equipment Design; D019544:Equipment Failure Analysis; D005260:Female; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000295:instrumentation*; D059705:Polar Bodies / Q000502:physiology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019836:Preimplantation Diagnosis / Q000295:instrumentation*
chemical_list: D004272:DNA, Mitochondrial
keywords: Preimplantation genetic diagnosis; aneuploidy screening; array comparative genomic hybridization; mitochondrial DNA; single-nucleotide polymorphisms