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Human Reproduction, Vol. 19, No. 2, 316-324, February 2004
© 2004 European Society of Human Reproduction and Embryology

Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos

Edith Coonen1,2,4, Josien G. Derhaag1,2, John C.M. Dumoulin1,2, Lucie C.P. van Wissen1,2, Marijke Bras1,2, Marij Janssen1,2, Johannes L.H. Evers1,2 and Joep P.M. Geraedts1,3

1 Research Institute Growth & Development (GROW), Maastricht University 2 Department of Obstetrics & Gynaecology, Academic Hospital Maastricht and 3 Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands

4 To whom correspondence should be addressed at: Academic Hospital Maastricht, Department of Obstetrics & Gynaecology, IVF Laboratory, P.O.Box 5800, 6202 AZ Maastricht, The Netherlands. e-mail: eco{at}sgyn.azm.nl or edith.coonen{at}gen.unimaas.nl

BACKGROUND: Cleavage stage embryos as well as postimplantation embryos have been studied extensively over the years. However, our knowledge with respect to the chromosomal constitution of human embryos at the blastocyst stage is still rudimentary. METHODS: In the present paper, a large series of human blastocysts was examined by means of fluorescent in situ hybridization (FISH). RESULTS: It was found that only one in four blastocysts (25%) displayed a normal chromosomal pattern. We defined a group of blastocysts (26%) displaying a simple mosaic chromosome pattern (different cell lines resulting from one chromosomal error), an about equally large group of blastocysts (31%) displaying a complex mosaic chromosome pattern, and a smaller group of blastocysts (11%) showing a chaotic chromosome distribution pattern. Six per cent of all blastocysts analysed could not be assigned one of the previously mentioned chromosomal patterns. CONCLUSION: Anaphase lagging appeared to be the major mechanism through which human embryos acquire a mosaic chromosome pattern during preimplantation development to the blastocyst stage.

Key words: blastocyst/chromosomal mosaicism/fluorescent in situ hybridization/human embryos/preimplantation development


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