Significance of chromosomal aberrations for the unsuccessful procedures of assisted reproduction

Tarlatzis, Basil C.; Toncheva, Draga; Vatev, I

doi:10.1016/s0301-2115(99)00137-2

Cited by 7 publications

(4 citation statements)

References 26 publications

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“…There are very few published data about single-cell translocations; their frequency and impact in infertility has not been extensively studied [ 16 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…Single Cell Translocation (SCT) is described as an isolated metaphase of a sporadic cell with chromosomal translocation in an individual with an otherwise normal chromosomal constitution. SCTs were first described in the 1980s, but only a few subsequent studies reported SCTs as a possible cause of reproductive failure [ 16 , 17 , 18 , 19 , 20 ]. The most frequent form of this chromosomal rearrangement is the translocation between chromosomes 7 and 14 (t(7;14)), but the translocational breakpoints tend to be very heterogenous [ 16 , 21 ].…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Andó

Koczok

Bessenyei

et al. 2022

Genes

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Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequency of chromosomal aberrations in infertile patients and to compare the frequency of structural aberrations to a control group. Karyotyping was performed in 1489 men and 780 women diagnosed with reproductive failure between 2010 and 2020. The control group included 869 male and 1160 female patients having cytogenetic evaluations for reasons other than infertility. Sex chromosomal aberrations were detected in 33/1489 (2.22%) infertile men and 3/780 (0.38%) infertile women. Structural abnormalities (e.g., translocation, inversion) were observed in 89/1489 (5.98%) infertile men and 58/780 (7.44%) infertile women. The control population showed structural chromosomal abnormalities in 27/869 (3.11%) men and 39/1160 (3.36%) women. There were significant differences in the prevalence of single-cell translocations between infertile individuals (males: 3.5%; females: 3.46%) and control patients (males: 0.46%; females: 0.7%). In summary, this is the first report of cytogenetic alterations in infertile patients in Hungary. The types of chromosomal abnormalities were comparable to previously published data. The prevalence of less-studied single-cell translocations was significantly higher in infertile patients than in the control population, supporting an earlier suggestion that these aberrations may be causally related to infertility.

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“…There are very few published data about single-cell translocations; their frequency and impact in infertility has not been extensively studied [ 16 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Andó

Koczok

Bessenyei

et al. 2022

Genes

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“…Chromosomal breakages in the centromere region and the incidence of mosaicism were observed significantly more frequently in embryos of patients with recurrent IVF treatment failures than controls 17 . This suggests that chromosomal abnormalities are responsible for some cases of repeated IVF failure.…”

Section: Discussionmentioning

confidence: 93%

Investigation and current management of recurrent IVF treatment failure in the UK

Tan

Vandekerckhove

Kennedy

et al. 2005

BJOG

136

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“…50 An increased frequency of female (systemic) chromosomal translocations, mosaics, inversions and deletions were observed in young women with high-order RIF. 51,52 Preimplantation genetic screening (PGS) is the performance of FISH on biopsied blastomeres with probes for the centromeres of the 3 to 8 chromosomes responsible most frequently for aneuploidies. Thus by selecting only the chromosomally normal embryos for transfer, PGS was initially presumed to significantly increase the implantation rates.…”

Section: Genetic Abnormalitiesmentioning

confidence: 99%

Implantation Failure, Etiology, Diagnosis and Treatment

Shufaro

Schenker²

2011

International Journal of Infertility &Amp; Fetal Medicine

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Embryonic implantation is a complex interaction between the embryo and the endometrium. Despite great investigative effort this process is still obscure. Contrary to the great advancement in patient care, follicular recruitment, oocyte quality and aspiration, embryo quality, culture and cryopreservation, our understanding of the implantation process did not enhance as much, and the tools to intervene within this process are limited. The implantation of the transferred embryos still remains the major limiting factor in IVF. Here we will review the current literature on the maternal (uterine, hematologic, immunologic and others) and embryonic factors that are associated with repeated implantation failure (RIF) and describe the various therapeutic approaches to cope with them. In addition, we will present our conclusive recommendations on how to investigate and manage RIF based on the literature and our own experience.

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Significance of chromosomal aberrations for the unsuccessful procedures of assisted reproduction

Cited by 7 publications

References 26 publications

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

Investigation and current management of recurrent IVF treatment failure in the UK

Implantation Failure, Etiology, Diagnosis and Treatment

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