TY - JOUR
T1 - Non-meiotic chromosome instability in human immature oocytes
AU - Daina, Gemma
AU - Ramos, Laia
AU - Rius, Mariona
AU - Obradors, Albert
AU - Del Rey, Javier
AU - Giralt, Magda
AU - Campillo, Mercedes
AU - Velilla, Esther
AU - Pujol, Aïda
AU - Martinez-Pasarell, Olga
AU - Benet, Jordi
AU - Navarro, Joaquima
PY - 2014/2/1
Y1 - 2014/2/1
N2 - Aneuploidy has been a major issue in human gametes and is closely related to fertility problems, as it is known to be present in cleavage stage embryos and gestational losses. Pre-meiotic chromosome abnormalities in women have been previously described. The aim of this study is to assess the whole-chromosome complement in immature oocytes to find those abnormalities caused by mitotic instability. For this purpose, a total of 157 oocytes at the germinal vesicle or metaphase I stage, and discarded from IVF cycles, were analysed by CGH. Fifty-six women, between 18 and 45 years old (mean 32.5 years), including 32 IVF patients (25-45 years of age) and 24 IVF oocyte donors (18-33 years of age), were included in the study. A total of 25/157 (15.9%) of the oocytes analysed, obtained from three IVF clinics, contained chromosome abnormalities, including both aneuploidy (24/157) and structural aberrations (9/157). Independently of the maternal age, the incidence of abnormal oocytes which originated before meiosis is 15.9%, and these imbalances were found in 33.9% of the females studied. This work sheds light on the relevance of mitotic instability responsible for the generation of the abnormalities present in human oocytes. © 2014 Macmillan Publishers Limited All rights reserved.
AB - Aneuploidy has been a major issue in human gametes and is closely related to fertility problems, as it is known to be present in cleavage stage embryos and gestational losses. Pre-meiotic chromosome abnormalities in women have been previously described. The aim of this study is to assess the whole-chromosome complement in immature oocytes to find those abnormalities caused by mitotic instability. For this purpose, a total of 157 oocytes at the germinal vesicle or metaphase I stage, and discarded from IVF cycles, were analysed by CGH. Fifty-six women, between 18 and 45 years old (mean 32.5 years), including 32 IVF patients (25-45 years of age) and 24 IVF oocyte donors (18-33 years of age), were included in the study. A total of 25/157 (15.9%) of the oocytes analysed, obtained from three IVF clinics, contained chromosome abnormalities, including both aneuploidy (24/157) and structural aberrations (9/157). Independently of the maternal age, the incidence of abnormal oocytes which originated before meiosis is 15.9%, and these imbalances were found in 33.9% of the females studied. This work sheds light on the relevance of mitotic instability responsible for the generation of the abnormalities present in human oocytes. © 2014 Macmillan Publishers Limited All rights reserved.
KW - aneuploidy
KW - germline mitotic abnormalities
KW - immature oocytes
KW - premeiotic instability
KW - segmental imbalances
U2 - 10.1038/ejhg.2013.106
DO - 10.1038/ejhg.2013.106
M3 - Article
SN - 1018-4813
VL - 22
SP - 202
EP - 207
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -