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Hum. Reprod. Advance Access originally published online on November 26, 2004
Human Reproduction 2005 20(1):129-137; doi:10.1093/humrep/deh554
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Human Reproduction vol. 20 no. 1 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy

D.D. Daphnis1, J.D.A. Delhanty1, S. Jerkovic2, J. Geyer2, I. Craft2 and J.C. Harper1,3

1 UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86–96 Chenies Mews, London, WC1E 6HX and 2 The London Fertility Centre, Cozen's House, 112a Harley Street, London W1G 7JH, UK

3 To whom correspondence should be addressed. Email: joyce.harper{at}ucl.ac.uk

BACKGROUND: Fluorescence in situ hybridization (FISH) analysis has shown that human embryos display a high level of chromosomal mosaicism at all preimplantation stages. The aim of this study was to investigate the mechanisms involved by the use of two probes for each of three autosomes at different loci and to determine the true level of aneuploid mosaicism by excluding FISH artefacts. METHODS: Embryos were cultured in two different types of medium: group I were cultured in standard cleavage medium for up to day 5 and group II were cultured from day 3 to day 5 in blastocyst medium. Three rounds of FISH were performed. In round 1, the probes used were 1pTel, 11qTel and 18CEP; in round 2, the probes used were 1satII/III, 11CEP and 18qTel; in round 3, the probes used were 18CEP, XCEP and YCEP. RESULTS: A total of 21 embryos were analysed in each group. The FISH results revealed one uniformly diploid and 20 mosaic embryos for group I, and two uniformly diploid and 19 mosaic embryos for group II. The predominant type of mosaicism was diploid/aneuploid. The use of two different probes per autosome was able to distinguish FISH artefacts affecting 5% of nuclei from true single cell anomalies. CONCLUSIONS: Post-zygotic chromosome loss was the most common mechanism leading to aneuploidy mosaicism for both groups, followed by chromosome gain, with fewer examples of mitotic non-disjunction.

Key words: aneuploidy mechanisms/blastocyst/chromosomal mosaicism/FISH/human embryos


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