Investigation of chromosomal imbalance in human embryos using comparative genomic hybridization

被引:23
作者
Trussler, JL
Pickering, SJ
Ogilvie, CM
机构
[1] St Thomas Hosp, Dept Womens Hlth, GKT Sch Med, London SE1 7EH, England
[2] Guys & St Thomas Hosp Trust, Cytogenet Dept, London SE1 7RT, England
关键词
aneuploidy; CGH; meiotic aneuploidy; mosaicism; PGD-AS;
D O I
10.1016/S1472-6483(10)61652-5
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Studies of cleavage-stage human embryos using fluorescence in-situ hybridization (FISH) to identify sub-sets of chromosomes have indicated that the incidence of chromosomal abnormalities is high. Whole genome amplification (WGA) and comparative genomic hybridization (CGH) to investigate the full chromosome complement applied to a small number of human embryos suggested an even higher rate of abnormality. WGA and CGH were used to identify genomic imbalance in individual blastomeres from human embryos, and the results were correlated with FISH analysis of sibling blastomeres. Forty embryos were analysed: 17 (42.5%) had a normal diploid karyorype and 23 (51.5%) were abnormal with a chromosome imbalance in one or more cells including three (7.5%) that had a chaotic chromosome complement. Of the abnormal embryos, only three showed consistent aneuploidy. FISH results obtained from sibling blastomeres were in agreement with the CGH results in all 22 of the embryos where both tests \were informative. It is concluded that rates of meiotic aneuploidy in human embryos may be lower than previous estimates. The results indicate that chromosomally abnormal embryos were more likely to have arisen as a result of cultural artefact or inadequate cell cycle surveillance rather than meiotic error.
引用
收藏
页码:701 / 711
页数:11
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