Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening

Mantzouratou, Anna; Mania, Anastasia; Fragouli, Elpida; Xanthopoulou, L.; Tashkandi, Suha; Fordham, Karen; Ranieri, Domenico Massimo; Doshi, Alpesh; Nuttall, Sarah; Harper, Joyce; Serhal, Paul; Delhanty, Joy D. A.

doi:10.1093/humrep/dem102

Cited by 76 publications

(51 citation statements)

References 36 publications

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“…Pre-implantation genetic screening of embryos has confirmed the increase in embryo aneuploidy rate in cases of recurrent implantation failure [7][8][9], but aneuploidy mechanism seems to differ compare to women with advanced maternal age [10,11].…”

Section: Introductionmentioning

confidence: 99%

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Vialard

Hammoud

Molina-Gomès

et al. 2008

J Assist Reprod Genet

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Purpose Implantation failure is known to be associated with an increased risk of aneuploidy in embryos, a situation leading to a pre-implantation genetic screening, not allowed in different countries like France. Our aim was to evaluate the gamete aneuploidy incidence in this context, using first polar body and spermatozoa aneuploidy screening. Methods Three groups were considered: 11 couples with pregnancy obtained after IVF for female infertility (group 1); 20 couples with pregnancy obtained after IVF for male infertility (group 2); and 35 couples with implantation failure (group 3). In group 3, 28 couples treated by ICSI volunteered for first polar body analysis (PB1). Results Spermatozoa aneuploidy rate was increased in groups 2 (1.6%) and 3 (2.1%) in comparison to group 1 (0.6%). PB1 aneuploidy rate was 35.4% in group 3. Finally, eight couples (32%) had no particular chromosomal risk in gametes, 15/25 (60%) presented an increased spermatic (>2%) or oocyte (>1/3) aneuploidy rate, and 2/25 (8%) had both. Conclusion Those results confirm that implantation failure has a heterogeneous origin, that gamete chromosome abnormality rate is one of the major contributing factors, and that 1st Polar body and spermatozoa aneuploidy screening or pre-implantation genetics screening may be indicated for these couples.

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Section: Introductionmentioning

confidence: 99%

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Vialard

Hammoud

Molina-Gomès

et al. 2008

J Assist Reprod Genet

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“…Initially it might seem that analysis of the 1st PB would be the most effective procedure for the identification of aneuploid embryos. However, as previously stated, at least 50% of embryos created by IVF are chromosomally mosaic, with a mixture of normal and abnormal cells ( 42,50 ) and this proportion increases in couples with RIF ( 37,51 ). This type of aneuploidy is due to errors in post-zygotic mitotic divisions.…”

Section: First Polar Body or Blastomere For The Diagnosis Of Aneuploidy?mentioning

confidence: 68%

Errors in Chromosome Segregation During Oogenesis and Early Embryogenesis

Hultén

Smith

Delhanty

2010

Reproductive Endocrinology and Infertility

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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.

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“…Advanced maternal age has long been associated with an increase in the rate of aneuploidy, for example trisomy 21, whereas preimplantation embryos from women of advanced maternal age referred for Preimplantation Genetic Screening (PGS) also seem to have an increased level of meiotic errors (Mantzouratou et al, 2007).…”

Section: Maternal Agementioning

confidence: 99%

Meiotic Behaviour of Chromosomes Involved in Structural Chromosomal Abnormalities Determined by Preimplantation Genetic Diagnosis

Xanthopoulou¹,

Ghevaria²

2012

Meiosis - Molecular Mechanisms and Cytogenetic Diversity

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Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening

Abstract: This complete investigation has identified significant differences between referral groups concerning the origin of aneuploidy in their embryos.

Cited by 76 publications

References 36 publications

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Errors in Chromosome Segregation During Oogenesis and Early Embryogenesis

Meiotic Behaviour of Chromosomes Involved in Structural Chromosomal Abnormalities Determined by Preimplantation Genetic Diagnosis

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