Embryo Aneuploidy Screening for Unexplained Recurrent Miscarriage: A Minireview

Rubio, Carmen; Pehlivan, Tugce; Rodrigo, Lorena; Simón, Carlos; Remohı́, J.; Pellicer, António

doi:10.1111/j.1600-0897.2005.00260.x

Cited by 83 publications

(46 citation statements)

References 44 publications

(61 reference statements)

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“…Especially this is due to the fact that carriers of BRT have a risk of partial trisomy or partial monosomy for chromosomal regions involved in the translocation due to meiotic segregation. Most of the spontaneous miscarriages are caused due to chromosomal abnormalities in the embryo or foetus [8]. The genetic etiology for multiple spontaneous miscarriages includes an unbalanced chromosomal rearrangement which may be the result of one parent being carrier for BRT [9].…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Dutta

Rajitha

Pidugu

et al. 2010

J Assist Reprod Genet

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Purpose The purpose of the present study was to investigate the contribution of chromosomal anomalies and the frequency of a particular type of aberration in couples with recurrent miscarriages. Methods A total of 1,162 couples with recurrent miscarriages were analyzed using G-banding and Fluorescence in situ hybridization where ever necessary. Results Chromosomal anomalies were detected in 78 cases. This study describes majority of the cases with balanced reciprocal translocations. Among the abnormal karyotypes we also report for the first time three unique translocations involving (3;14), (18;22) and (X;22) chromosomes which were confirmed by molecular cytogenetic methods. Conclusions The review of literature and the overall incidence of the abnormalities suggest that chromosomal analysis in couples with recurrent miscarriages should be taken up by all the practioners at all levels. This not only helps to check the cytological abnormalities but also helps to correlate the recurrent abnormalities in a given population. Thus establishing and correlating the environmental and genetic condition of that particular phenotype and genotype.

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Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Dutta

Rajitha

Pidugu

et al. 2010

J Assist Reprod Genet

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“…Accurate chromosome segregation is the crux of mitosis -failure causes genetic disorders, spontaneous abortions and cancer (Kops et al, 2005;Rubio et al, 2005;Shah et al, 2003;Weaver and Cleveland, 2006;Weaver et al, 2007). To allow accurate segregation, sister chromatids must remain cohered from their inception, which occurs in S-phase, until anaphase ( Fig.…”

Section: Introductionmentioning

confidence: 99%

Chromosome cohesion – rings, knots, orcs and fellowship

Díaz-Martínez

Giménez-Abián²,

Clarke

2008

Journal of Cell Science

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Sister-chromatid cohesion is essential for accurate chromosome segregation. A key discovery towards our understanding of sister-chromatid cohesion was made 10 years ago with the identification of cohesins. Since then, cohesins have been shown to be involved in cohesion in numerous organisms, from yeast to mammals. Studies of the composition, regulation and structure of the cohesin complex led to a model in which cohesin loading during S-phase establishes cohesion, and cohesin cleavage at the onset of anaphase allows sister-chromatid separation. However, recent studies have revealed activities that provide cohesion in the absence of cohesin. Here we review these advances and propose an integrative model in which chromatid cohesion is a result of the combined activities of multiple cohesion mechanisms.

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“…Gianaroli et al (2005) obtained ~30% pregnancy rate with a high percentage (66%) of chromosomally abnormal embryos. Rubio et al (2005) also observed a higher percentage of abnormal embryos and lower pregnancy and implantation rates in the RSA group, when compared to patients with sex-linked diseases as controls. A prospective cohort study implied that there is no direct impact of PGD-AS on RSA patients irrespective of the maternal age (Platteau et al, 2005).…”

Section: Discussionmentioning

confidence: 91%

Successful preimplantation genetic aneuploidy screening in Turkish patients

Ercelen¹,

Turtar²,

Gültomruk³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. Preimplantation genetic diagnosis is a preventive approach for identifying genetic abnormalities in early stages of reproduction. We used preimplantation genetic aneuploidy screening in 230 cycles of patients with indications of advanced maternal age, recurrent implantation failure, recurrent spontaneous abortions, or severe male factor. Biopsied blastomeres from embryos with six to eight blastomeres on day 3 were fixed and fluorescence in situ hybridization was utilized on chromosomes 13, 16, 18, 21, 22, X, and Y. Among 945 morphologically normal embryos, 314 were diagnosed as chromosomally normal. Trisomy and monosomy were observed in 36% of the cases (18% each). Embryo transfer was used in 144 cycles, resulting in 41 pregnancies. Thirty-seven healthy babies were delivered, with a take-home baby rate of 24.2% and an implantation rate of 22%. We recommend preimplantation genetic aneuploidy screening as a valuable technique to select normal chromosome embryos in order to avoid multiple pregnancies due to the multiple embryo transfers that are normally necessary to ensure pregnancy in poor prognosis in vitro fertilization patients.

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Embryo Aneuploidy Screening for Unexplained Recurrent Miscarriage: A Minireview

Abstract: Recurrent miscarriage is associated with a higher incidence of chromosomally abnormal embryos. In vitro fertilization (IVF) plus PGD is an important step in the management of these couples.

Cited by 83 publications

References 44 publications

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Chromosome cohesion – rings, knots, orcs and fellowship

Successful preimplantation genetic aneuploidy screening in Turkish patients

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