Mol. Hum. Reprod. Advance Access originally published online on January 25, 2008
Molecular Human Reproduction 2008 14(2):117-125; doi:10.1093/molehr/gam087
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Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH
1UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86-96 Chenies Mews, London WC1E 6HX, UK 2London Fertility Centre, Cozen's House, 112a Harley Street, London W1G 7JH, UK
3 Correspondence address. E-mail: tsalikhs{at}hotmail.com
The use of interphase fluorescent in situ hybridization (FISH) has shown that a large number of human embryos exhibit chromosomal abnormalities in vitro. The most common abnormality is mosaicism which is seen in up to 50% of preimplantation embryos at all stages of development. In this study, comparative genomic hybridization (CGH) was used to analyse 1–2 cells biopsied on Day 3 of development while the rest of the embryo was cultured until Day 5. Embryos were spread on Day 5 and analysed by FISH using probe combinations that varied depending on the CGH result, to investigate the progress of any abnormalities detected on Day 3. A total of 37 frozen–thawed embryos were analysed in this study. One gave no CGH or FISH results and was excluded from analysis. Six embryos failed to give any FISH result as they were degenerating on Day 5. Thirty embryos provided results from both techniques. According to the CGH results, the embryos were divided into two groups; Group 1 had a normal CGH result (13 embryos) and Group 2 an abnormal CGH result (17 embryos). For Group 1, three embryos showed normal CGH and FISH results, while 10 embryos were mosaic after FISH analysis, with various levels of abnormalities. For Group 2, FISH showed that all embryos were mosaic or completely chaotic. The combination of CGH and FISH enabled the thorough investigation of the evolution of mosaicism and of the mechanisms by which it is generated. The main two mechanisms identified were whole or partial chromosome loss and gain. These were observed in embryos examined on both Day 3 and 5.
Key words: blastocyst/chromosome abnormalities/comparative genomic hybridisation/mosaicism/preimplantation embryos
Submitted on March 2, 2007; resubmitted on September 3, 2007; accepted on October 18, 2007.
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