Hum. Reprod. Advance Access originally published online on November 1, 2004
Human Reproduction 2004 19(12):2859-2868; doi:10.1093/humrep/deh515
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Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis
1 Departament de Biologia Cel.lular, Fisiologia i Immunologia, Unitat de Medicina, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Spain, 2 The Institute for Reproductive Medicine and Science, St Barnabas Medical Center, 94 Old Short Hills Road, Livingston, NJ 07039 and 3 Reprogenetics, 101 Old Short Hills Road, Suite 501, West Orange, NJ 07052, USA
4 To whom correspondence should be addressed at: Departament de Biologia Cel.lular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Spain.; Email: joaquinia.navarro{at}uab.es
BACKGROUND: The object of this study was to determine the mechanisms that produce aneuploidy in oocytes and establish which chromosomes are more prone to aneuploidy. METHODS: A total of 54 oocytes from 36 women were analysed. The whole chromosome complement of the first polar body (1PB) was analysed by comparative genomic hybridization (CGH), while the corresponding metaphase II (MII) oocyte was analysed by fluorescence in situ hybridization (FISH) to confirm the results. RESULTS: Matched CGH–FISH results were obtained in 42 1PB–MII doublets, of which 37 (88.1%) showed reciprocal results. The aneuploidy rate was 57.1%. Two-thirds of the aneuploidy events were chromatid abnormalities. Interestingly, the chromosomes more frequently involved in aneuploidy were chromosomes 1, 4 and 22 followed by chromosome 16. In general, small chromosomes (those equal to or smaller in size than chromosome 13) were more prone to aneuploidy (
2-test, P=0.07); 25% of the aneuploid doublets would have been misdiagnosed as normal using FISH with probes for nine-chromosomes. CONCLUSIONS: The combination of two different techniques, CGH and FISH, for the study of 1PB and MII allowed the identification and confirmation of any numerical chromosome abnormality, as well as helping to determine the mechanisms involved in the genesis of maternal aneuploidy.
Key words: aneuploidy/CGH/first polar body/FISH/oocyte
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