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Molecular Human Reproduction, Vol. 8, No. 5, 502-510, May 2002
© 2002 European Society of Human Reproduction and Embryology

Reproductive genetics

Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations

H. Malmgren1,4, S. Sahlén1, J. Inzunza2, M. Aho3, B. Rosenlund3, M. Fridström3, O. Hovatta3, L. Ährlund-Richter2, M. Nordenskjöld1 and E. Blennow1

1 Department of Molecular Medicine, Karolinska Institutet, Karolinska Hospital, S-171 76, 2 Clinical Research Center, Huddinge University Hospital, Karolinska Institutet, S-141 86, 3 Department of Clinical Sciences, Obstetrics and Gynaecology Unit, Huddinge Hospital, S-141 86 Stockholm, Sweden

Abstract

We have performed comparative genomic hybridization (CGH) analysis of single blastomeres from human preimplantation embryos of patients undergoing preimplantation genetic diagnosis (PGD) for inherited structural chromosome aberrations and from embryos of IVF couples without known chromosomal aberrations. The aim was to verify the PGD results for the specific translocation, reveal the overall genetic balance in each cell and visualize the degree of mosaicism regarding all the chromosomes within the embryo. We successfully analysed 94 blastomeres from 28 human embryos generated from 13 couples. The single cell CGH could verify most of the unbalanced translocations detected by PGD. Some of the embryos exhibited a mosaic pattern regarding the chromosomes involved in the translocation, and different segregation could be seen within an embryo. In addition to the translocations, we found a high degree of numerical aberrations including monosomies, trisomies and duplications or deletions of parts of chromosomes. All of the embryos (100%) were mosaic, containing more than one chromosomally uniform cell line, or even chaotic with a different chromosomal content in each blastomere.

embryo/mosaicism/PGD/single cell CGH

Notes

4 To whom correspondence should be addressed. E-mail: helena.malmgren{at}cmm.ki.se


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