Comprehensive embryo analysis of advanced maternal age-related aneuploidies and mosaicism by short comparative genomic hybridization

Unitat de Biologia Cellular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Fertility and sterility (Impact Factor: 4.59). 01/2011; 95(1):413-6. DOI: 10.1016/j.fertnstert.2010.07.1051
Source: PubMed

ABSTRACT The short comparative genomic hybridization (short-CGH) method was used to perform a comprehensive cytogenetic study of isolated blastomeres from advanced maternal age embryos, discarded after fluorescent in situ hybridization (FISH) preimplantation genetic screening (PGS), detecting aneuploidies (38.5% of which corresponded to chromosomes not screened by 9-chromosome FISH), structural aberrations (31.8%), and mosaicism (77.3%). The short-CGH method was subsequently applied in one PGS, achieving a twin pregnancy.

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    • "Finally, centric fission has been characterized as an important driver of karyotype evolution [Perry et al., 2004] and i(p) and i(q) formation is an important mechanism in UPID etiology [Kotzot, 2001, 2008]. We, as well as other groups, demonstrate that the cleavage stage embryo is prone to (peri-)centric instability or centric fission resulting in i(p) or i(q) chromosome formation in human cleavage stage embryogenesis [Wells and Delhanty, 2000; Vanneste et al., 2009; Rius et al., 2010]. "
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