Microarray-CGH for the Assessment of Aneuploidy in Human Polar Bodies and Oocytes

Part of the Methods in Molecular Biology book series (MIMB, volume 957)


The cytogenetic analysis of single cells, such as oocytes and polar bodies, is extremely challenging. The main problem is low probability of obtaining a metaphase preparation in which all of the chromosomes are sufficiently well spread to permit accurate analysis (no overlapping chromosomes, no chromosomes lost). As a result, a high proportion of the oocytes subjected to cytogenetic analysis are not suitable for traditional chromosome banding studies or for molecular cytogenetic methods such as spectral karyotyping (SKY) or multiplex fluorescence in situ hybridization (M-FISH). Fortunately, recent innovations in whole genome amplification and microarray technologies have provided a means to analyze the copy number of every chromosome in single cells with high accuracy. Here we describe the use of such methods for the investigation of chromosome and chromatid abnormalities in human oocytes and polar bodies.

Key words

Whole genome amplification Microarray Comparative genomic hybridization Aneuploidy Polar body Oocyte 



D.W. is funded by the NIHR Biomedical Research Centre, Oxford.


  1. 1.
    Pellestor F, Andreo B, Arnal F, Humaeu C, Demaille J (2003) Maternal ageing and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes. Hum Genet 112:195–203PubMedGoogle Scholar
  2. 2.
    Kuliev A, Cieslak J, Ilkevitch Y, Verlinsky Y (2003) Chromosomal abnormalities in a series of 6,733 human oocytes in preimplantation diagnosis for age-related aneuploidies. Reprod Biomed Online 6:54–59PubMedCrossRefGoogle Scholar
  3. 3.
    Fragouli E, Escalona A, Gutiérrez-Mateo C, Tormasi S, Alfarawati S, Sepulveda S, Noriega L, Garcia J, Wells D, Munné S (2009) Comparative genomic hybridization of oocytes and first polar bodies from young donors. Reprod Biomed Online 19:228–237PubMedCrossRefGoogle Scholar
  4. 4.
    Fragouli E, Alfarawati S, Goodall NN, Sánchez-García JF, Colls P, Wells D (2011) The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. Mol Hum Reprod. Apr 14. [Epub ahead of print] PMID: 21493685Google Scholar
  5. 5.
    Angell RR (1991) Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum Genet 86:383–387PubMedCrossRefGoogle Scholar
  6. 6.
    Sandalinas M, Marquez C, Munné S (2002) Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod 8:580–585PubMedCrossRefGoogle Scholar
  7. 7.
    Alfarawati S, Fragouli E, Colls P, Wells D (2011) First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod 26:1560–1574PubMedCrossRefGoogle Scholar
  8. 8.
    Gutiérrez-Mateo C, Colls P, Sánchez-García J, Escudero T, Prates R, Wells D, Munné S (2010) Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 95:953–958PubMedCrossRefGoogle Scholar
  9. 9.
    Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, Ubaldi FM, Iammarrone E, Gordon A, Pantos K (2011) PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 26:1925–1935PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2013

Authors and Affiliations

  1. 1.Reprogenetics UK, Institute of Reproductive SciencesOxfordUK
  2. 2.Nuffield Department of Obstetrics and Gynaecology, Women’s Centre John Radcliffe HospitalUniversity of OxfordOxfordUK

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