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Title: What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate
Authors: Vanneste, Evelyne *
Voet, Thierry *
Melotte, Cindy
Debrock, Sophie
Sermon, Karen
Staessen, Catherine
Liebaers, Inge
Fryns, Jean-Pierre
D'Hooghe, Thomas
Vermeesch, Joris # ×
Issue Date: Nov-2009
Publisher: Published for the European Society of Human Reproduction and Embryology by IRL Press
Series Title: Human Reproduction vol:24 issue:11 pages:2679-2682
Abstract: Preimplantation genetic screening is being scrutinized, as recent randomized clinical trials failed to observe the expected significant increase in live birth rates following fluorescence in situ hybridization (FISH)-based screening. Although these randomized clinical trials are criticized on their design, skills or premature stop, it is generally believed that well-designed and well-executed randomized clinical trials would resolve the debate about the potential benefit of preimplantation genetic screening. Since FISH can analyze only a limited number of chromosomal loci, some of the embryos transferred might be diagnosed as 'normal' but in fact be aneuploid for one or more chromosomes not tested. Hence, genome-wide array comparative genome hybridization screening enabling aneuploidy detection of all chromosomes was thought to be a first step toward a better design. We recently showed array screening indeed enables accurate determination of the copy number state of all chromosomes in a single cell. Surprisingly, however, this genome-wide array screening revealed a much higher frequency and complexity of chromosomal aberrations in early embryos than anticipated, with imbalances in a staggering 90% of all embryos. The mitotic error rate in cleavage stage embryos was proven to be higher than the meiotic aneuploidy rate and as a consequence, the genome of a single blastomere is not representative for the genome of the other cells of the embryo. Hence, potentially viable embryos will be discarded upon screening a single blastomere. This observation provides a biological basis for the failure of the randomized clinical trials to increase baby-take-home rates using FISH on cleavage stage embroys.
ISSN: 0268-1161
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
Clinical Genetics Section (-)
* (joint) first author
× corresponding author
# (joint) last author

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