Evaluation of cytogenetic analysis for clinical preimplantation diagnosis

J. Santalo, A. Veiga, J. M. Calafell, G. Calderon, F. Vidal, P. N. Barri, C. Gimenes, J. Egozcue

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29 Citations (Scopus)


Objective: To evaluate the feasibility of using cytogenetic analysis in preimplantation diagnosis. Design: Two different biopsy protocols (chemical drilling and zona cutting) and two fixation methods were tested in a mouse model. Afterwards, the efficiency of obtaining chromosome preparations from untransferable human embryos depending on the method used to obtain the blastomeres (embryos biopsy or removal of the zona pellucida and blastomere disaggregation) was determined. The chances of obtaining chromosome preparations depending on the type of embryo (haploid, diploid, triploid, and apparently unfertilized) were also evaluated. Results: Results from the mouse model showed that chemical drilling yields better results than cutting in terms of metaphases per biopsied embryo and surviving rate after biopsy. In human embryos, biopsy of diploid embryos produced 46.6% chromosome preparations, while 29% were obtained after blastomere disaggregation and 20.4% when biopsying triploid embryos. Conclusions: These results suggest that the disaggregating procedure and triploid embryos cannot be considered as good models to assess the feasibility of cytogenetic analysis in preimplantation diagnosis. Poor chromosome quality and loss during fixation are the main problems to use cytogenetics in preimplantation diagnosis; a combination of cytogenetics and other techniques is suggested in cases of balanced translocations.
Original languageEnglish
Pages (from-to)44-50
JournalFertility and Sterility
Issue number1
Publication statusPublished - 1 Jan 1995


  • cytogenetics
  • Embryo biopsy
  • embryo manipulation
  • preimplantation diagnosis


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