Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization

Rius, Mariona; Obradors, Albert; Daina, Gemma; Ramos, Laia; Pujol, Aïda; Martínez-Passarell, Olga; Marquès, Laura; Oliver-Bonet, María; Benet, Jordi; Navarro, J.

doi:10.1016/j.fertnstert.2011.04.052

Cited by 34 publications

(24 citation statements)

References 44 publications

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“…The meiotic segregation pattern was identified in all of the analyzed embryos, showing that the 2∶1 alternate segregation was the most frequently produced (Table S1), in agreement with previously reported works [3],[30].…”

Section: Discussionsupporting

confidence: 91%

“…Aneuploidy is a major issue in advanced-maternal-age (AMA) patients [2] and balanced translocation carriers [3], however, it should not be underestimated in embryos from young couples with repeated implantation failures [4], recurrent miscarriages [5] or idiopathic sterility [6].…”

Section: Introductionmentioning

confidence: 99%

“…Comprehensive cytogenetic analysis techniques, such as metaphase comparative genomic hybridisation (mCGH), array-CGH (aCGH) or single-nucleotide polymorphism arrays (SNP-arrays), have allowed for the detection of whole-chromosome imbalances (aneuploidies) and segmental chromosome imbalances in cleavage-stage embryos [3],[7],[8] and blastocysts [9]. Until the application of mCGH, it had not been possible to analyse all of the chromosome complement in a single hybridisation step nor to analyse all chromosome length with a resolution of 10 Mb-20 Mb [10].…”

Section: Introductionmentioning

confidence: 99%

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Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers

et al. 2014

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Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Genetic Diagnosis, oligonucleotide array-CGH has not been used in an extensive way. A comparison between oligonucleotide array-CGH and metaphase-CGH has been performed analysing 15 single fibroblasts from aneuploid cell-lines and 18 single blastomeres from human cleavage-stage embryos. Afterwards, oligonucleotide array-CGH and BAC array-CGH were also compared analysing 16 single blastomeres from human cleavage-stage embryos. All three comprehensive analysis techniques provided broadly similar cytogenetic profiles; however, non-identical profiles appeared when extensive aneuploidies were present in a cell. Both array techniques provided an optimised analysis procedure and a higher resolution than metaphase-CGH. Moreover, oligonucleotide array-CGH was able to define extra segmental imbalances in 14.7% of the blastomeres and it better determined the specific unbalanced chromosome regions due to a higher resolution of the technique (≈20 kb). Applicability of oligonucleotide array-CGH for Preimplantation Genetic Diagnosis has been demonstrated in two cases of Robertsonian translocation carriers 45,XY,der(13;14)(q10;q10). Transfer of euploid embryos was performed in both cases and pregnancy was achieved by one of the couples. This is the first time that an oligonucleotide array-CGH approach has been successfully applied to Preimplantation Genetic Diagnosis for balanced chromosome rearrangement carriers.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers

et al. 2014

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“…However, few preimplantation genetic diagnosis (PGD) studies report the results of the segregation outcome and the presence of numerical abnormalities in the same cells (Alfarawati et al, 2011;Colls et al, 2012;Fiorentino et al, 2011;Rius et al, 2011). These studies, performed either by comparative genomic hybridization (CGH) or microarray-CGH, report a similar range of alternate segregation in the euploid and aneuploid embryos from male Robertsonian translocation carriers.…”

Section: Article In Pressmentioning

confidence: 99%

Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers

Godo

Blanco

Vidal

et al. 2015

Reproductive BioMedicine Online

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“…PGD for translocation carriers allows selection of normal/balanced embryos and increases chances of conceiving as well as reduces the probability of spontaneous abortion and chromosomally unbalanced offspring [Otani et al, 2006;Fischer et al, 2010]. Array comparative genomic hybridization (aCGH) has been validated for translocations and is used as an effective tool for identification of embryos with an unbalanced chromosomal complement of translocation carriers [Fiorentino et al, 2011;Rius et al, 2011;Treff et al, 2011;Colls et al, 2012]. Moreover, aCGH allows a simultaneous whole chromosome aneuploidy screening, which is important since the presence of a translocation may affect segregation of other chromosomes, leading to aneuploidies of chromosomes not involved in the translocation [Gianaroli et al, 2002;Alfarawati et al, 2012].…”

mentioning

confidence: 99%

A Rare Non-Robertsonian Translocation with Chromosome Fusion der(5;15)(q35.3;q10): Segregation Analysis in Male Meiosis and Preimplantation Embryos

Pylyp¹,

Zukin²,

Mykytenko³

et al. 2014

Cytogenet Genome Res

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Balanced chromosomal translocations do not normally have phenotypic manifestation, but lead to increased risk of infertility, miscarriage and live-birth of chromosomally unbalanced offspring in carriers. The risk assessment of such outcomes in carriers of rare chromosomal abnormalities is complicated since limited information is available on the frequencies of unbalanced sperm and embryo formation. Therefore, the aim of this study was to investigate the amount of normal/balanced and unbalanced sperm and embryos of a rare non-Robertsonian chromosome fusion carrier with karyotype 45,XY,der(5;15)(q35.3;q10). Cytogenetic analyses of peripheral blood lymphocytes, multicolour fluorescence in situ hybridization on sperm sample, trophectoderm biopsy, and preimplantation genetic diagnosis by array comparative genomic hybridization were performed. The most frequent type of meiotic segregation was alternate (53% in sperm and 66.7% in embryos), followed by adjacent (44% in sperm and 33.3% in day-5 embryos). Additionally, 3:0 segregation was detected in sperm with a frequency of 2.6% and not detected in day-5 embryos. Results of sperm segregation analysis in rare rearrangement carriers are valuable for genetic counselling in assisted reproduction.

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Detection of unbalanced chromosome segregations in preimplantation genetic diagnosis of translocations by short comparative genomic hibridization

Cited by 34 publications

References 44 publications

Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers

Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers

Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers

A Rare Non-Robertsonian Translocation with Chromosome Fusion der(5;15)(q35.3;q10): Segregation Analysis in Male Meiosis and Preimplantation Embryos

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