Human Reproduction, Vol. 17, No. 2, 413-419,
February 2002
© 2002 European Society of Human Reproduction and Embryology
Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome
1 Departments of Obstetrics and Gynecology, 2 Human Genetics and 3 Experimental Medicine, Royal Victoria Hospital, McGill University, Montreal, QC H3A 1A1, Canada
BACKGROUND: A large percentage of in-vitro generated cleavage stage human embryos are chromosomally mosaic, consisting of both normal (diploid) and abnormal (non-diploid) cells. The present study characterized mosaicism at each stage of cleavage division and examined its effect on preimplantation development in vitro. METHODS: A total of 216 normally fertilized (two-pronucleate) embryos which were not selected for transfer to the patients were analysed for chromosomal abnormalities using multi-colour fluorescence in-situ hybridization DNA probes specific for three to five of nine different chromosomes (X, Y, 2, 7, 13, 16, 18, 21, 22). RESULTS: Overall, 48.1% of embryos were mosaic. The frequency of mosaic embryos increased from 15.2 to 49.4 to 58.1%, from the 2–4-cell to 5–8-cell to morula stages respectively, and the types of non-diploid cells detected were mostly aneuploid or chaotic. The incidence of mosaicism at the blastocyst stage was 90.9%; however, most of the mosaicism comprised diploid and polyploid cells. Arrested mosaic embryos had a higher incidence of chaotic abnormalities, and higher proportions of abnormal cells compared with the non-arrested group. CONCLUSIONS: Post-zygotic errors leading to mosaicism may occur, and persist throughout preimplantation development in vitro. Our results suggest that mosaicism involving multiple chromosomal imbalances and/or imbalances affecting a high proportion of cells in an embryo appear to impair development to the blastocyst stage.
Key words: chromosomes/embryo mosaicism/fluorescence in-situ hybridization/preimplantation development
4 To whom correspondence should be addressed at: Royal Victoria Hospital, Dept Obs/Gyn, Women's Pavillion, F-3–16, 687 Pine Avenue West, Montreal, QC H3A 1A1, Canada. E-mail: asangla.ao{at}muhc.mcgill.ca
Submitted on November 17, 2000; resubmitted on June 11, 2001
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