Chromosomal mosaicism throughout human preimplantation development in vitro:: incidence, type, and relevance to embryo outcome

被引:202
作者
Bielanska, M
Tan, SL
Ao, A
机构
[1] McGill Univ, Royal Victoria Hosp, Dept Obstet & Gynecol, Montreal, PQ H3A 1A1, Canada
[2] McGill Univ, Royal Victoria Hosp, Dept Human Genet, Montreal, PQ H3A 1A1, Canada
[3] McGill Univ, Royal Victoria Hosp, Dept Expt Med, Montreal, PQ H3A 1A1, Canada
关键词
chromosomes; embryo mosaicism; fluorescence in-situ hybridization; preimplantation development;
D O I
10.1093/humrep/17.2.413
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
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.
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收藏
页码:413 / 419
页数:7
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