Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes

Gutiérrez-Mateo, Cristina

doi:10.1093/humrep/deh367

Cited by 74 publications

(65 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A first report on the utilization of CGH to detect chromosomal abnormalities in first polar bodies of metaphase II oocytes was reported in 2004. It suggested superior accuracy of this technique over FISH in detecting aneuploidies [28]. CGH, of course, allowed the analysis of all chromosomes at once.…”

Section: Search Strategymentioning

confidence: 99%

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Gleicher

Barad

2012

J Assist Reprod Genet

View full text Add to dashboard Cite

Section: Search Strategymentioning

confidence: 99%

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Gleicher

Barad

2012

J Assist Reprod Genet

View full text Add to dashboard Cite

“…As evidence gained by analysis of preimplantation embryos shows that those with autosomal monosomies and with autosomal trisomies of the largest autosomes rarely progress beyond initial implantation, over half of the abnormal oocytes will lead to IVF failure. The mechanism of gonadal or germinal mosaicism involving secondary meiotic non-disjunction, leading to aneuploid oocytes was confirmed by the observation of oocytes or PBs with an additional or missing chromosome, without the reciprocal anomaly being scored in the corresponding PB or oocyte ( 24,(31)(32)(33) ).…”

Section: The Aneuploidy Rate In Human Oocytesmentioning

confidence: 86%

“…10). The approach of using CGH analysis to acquire data on aneuploidy in human oocytes has been validated by several recent studies ( 24,(30)(31)(32)(33)(34) ).…”

Section: Methodsmentioning

confidence: 99%

Errors in Chromosome Segregation During Oogenesis and Early Embryogenesis

Hultén

Smith

Delhanty

2010

Reproductive Endocrinology and Infertility

View full text Add to dashboard Cite

Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases. The crucial events including meiotic chromosome pairing and recombination takes place from around 11 weeks until birth. Oogenesis is then arrested until ovulation, when the first meiotic division takes place with the second meiotic division not completed until after fertilization. It is generally accepted that most aneuploid fetal conditions, such as for example trisomy 21 Down syndrome, is due to maternal chromosome segregation errors. The underlying reasons are not yet fully understood. It is also clear that superimposed on the maternal meiotic chromosome segregation errors there is a large amount of mitotic errors taking place post-zygotically during the first few cell divisions in the embryo. In this chapter we summarize current knowledge of errors in chromosome segregation during oogenesis and early embryogenesis, with special reference to the clinical implications for successful assisted reproduction.

show abstract

“…In the cases where chromosomes 17, 19 and 22 altogether were gained or lost in the same cell, they were excluded from the analysis, as they might be artifactual. 13,22,23 Statistical analysis w 2 tests were used to assess whether the differences between the established groups had statistical relevance.…”

Section: Comparative Genomic Hybridisation Analysismentioning

confidence: 99%

“…Non-complementary rates between 1 and 15.5% have been described. 8,[13][14][15][16][17][18] It has been postulated that these aneuploid cells could have originated in the early mitotic divisions of the embryo or during mitotic proliferation of the oogonia in embryogenesis. 19,20 Additionally, direct studies in ovaries of euploid fetuses indicate that ovary mosaicism might be a common situation.…”

Section: Introductionmentioning

confidence: 99%

Non-meiotic chromosome instability in human immature oocytes

et al. 2013

View full text Add to dashboard Cite

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. European Journal of Human Genetics ( Keywords: premeiotic instability; immature oocytes; aneuploidy; segmental imbalances; germline mitotic abnormalities INTRODUCTION Aneuploidy has been a major issue in human gametes, and is highly related to fertility problems. It is known to be present in cleavage stage embryos and gestational losses. 1,2 The prevailing mechanism causing aneuploidy in humans concerns maternal meiotic mal-segregation. Several studies have focused their interest on oocyte aneuploidy, mainly those which originate during the first and second meiotic divisions. 1 For this purpose, first and second polar bodies (1PB and 2PB) and the corresponding metaphase II (MII) oocytes have been analysed, describing aneuploidies of meiotic origin, mainly caused by chromosome non-disjunction and/ or sister chromatid predivision. 3 Meiotic studies have been performed in oocytes using a great variety of cytogenetic methodologies. R-banding karyotyping on 1397 oocytes showed aneuploidies in 10.8% of the cells studied. 4 An aneuploidy rate of 47.5% was observed when 1PB-MII oocyte doublets were analysed by 9-chr FISH. 5 In studies where the wholechromosome complement was assessed by spectral karyotyping, aneuploidy rates from 16.7% (10/60) 6 to 42.5% (20/47) 7 were detected. Using comparative genomic hybridisation (CGH), a great variability of aneuploidy rates was found, when different wholegenome amplification methodologies were used to amplify the DNA from single cells, and aneuploidy rates found in 1PB-MII oocyte doublets varied from 3% in oocyte donors 8 to 65% in IVF patients. 9

show abstract

Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes

Cited by 74 publications

References 51 publications

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Errors in Chromosome Segregation During Oogenesis and Early Embryogenesis

Non-meiotic chromosome instability in human immature oocytes

Contact Info

Product

Resources

About