Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

Sarrate, Zaida; Vidal, Francesca; Blanco, Joan

doi:10.1016/j.fertnstert.2008.12.139

Cited by 57 publications

(56 citation statements)

References 87 publications

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“…Results showed significant increased frequencies of sex chromosomes disomies and chromosome 18 disomies, as well as diploidies when compared to the control population [19] (p <0.001).…”

Section: Ice Analysis Versus Segregation Contentmentioning

confidence: 87%

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Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

Godo

Blanco

Vidal

et al. 2013

J Assist Reprod Genet

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Purpose To find out the meiotic segregation behaviour of the t(1;8;2)(q42;p21;p15), to evaluate the occurrence of interchromosomal effects, and to determine whether there is an accumulation of unbalanced products in aneuploid/diploid gametes. Methods A sequential FISH protocol based on two successive hybridization rounds over the same spermatozoa was performed to determine the segregation outcome of the rearranged chromosomes. The presence of numerical abnormalities for 13, 18, 21, X and Y was also evaluated by sperm FISH. Those aneuploid/diploid gametes were subsequently relocalized and analyzed for their segregation content through additional hybridization rounds. Results The segregation pattern observed reported a very low production of normal/balanced gametes (11.7 %). Significant increased frequencies of diploidies and disomies for chromosomes X/Y and 18 were detected (p <0.001). Aneuploid and diploid spermatozoa displayed significant increases of 5:1, 6:0 and other unexpected disjunction modes (p <0.001).Conclusions The strategy developed in this study is a reliable new approach to establish the full segregation pattern of complex chromosome rearrangements (CCR). Results corroborate the low number of normal/balanced spermatozoa produced by CCR carriers and support previous findings regarding an altered segregation pattern in gametes with numerical abnormalities. Altogether this confirms the importance of PGD as a tool to prevent the transmission of chromosomal abnormalities to the offspring in CCR patients.

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“…Results showed significant increased frequencies of sex chromosomes disomies and chromosome 18 disomies, as well as diploidies when compared to the control population [19] (p <0.001).…”

Section: Ice Analysis Versus Segregation Contentmentioning

confidence: 87%

“…Aneuploid and diploid frequencies for chromosomes X, Y, 13, 18 and 21 were compared to data from a control population. This population was previously established in our laboratory [19] and was formed by six fertile individuals (ranged in age from 20 to 25 years). Subjects were normozoospermic and showed normal karyotypes.…”

Section: Discussionmentioning

confidence: 99%

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

Godo

Blanco

Vidal

et al. 2013

J Assist Reprod Genet

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“…It is simply a question of percentages. In infertile patients with normal mitotic karyotype, the level of spermatic aneuploidies is significantly higher in comparison to fertile men: 13% according to the data obtained and 14% according to Sarrate et al, (2010). The high number of patients included in both studies, in excess of 2000, gives added solidity to the data.…”

Section: Remarksmentioning

confidence: 90%

Meiotic Chromosome Abnormalities and Spermatic FISH in Infertile Patients with Normal Karyotype

Marina¹,

Egozcue²,

Marina³

et al. 2012

Advances in Embryo Transfer

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“…For example, even with 33% reproductive competence, a male with a potential production of 60 × 10 6 spermatozoa/mL but with a yield of 20 × 10 6 spermatozoa/mL would still be classified as normozoospermic (having normal number of sperm). Interestingly, aneuploidy has been correlated with a low sperm count [Sarrate et al 2010].…”

Section: Total Sperm Number and Sperm Concentrationmentioning

confidence: 99%

Spermatozoa as biomarkers for the assessment of human male infertility and genotoxicity

Antón

Krawetz

2012

Systems Biology in Reproductive Medicine

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Establishing specific biomarkers for the assessment of human male fertility status is an important goal to ensure the fitness of the male contribution so as to support the birth of a healthy child. Spermatozoa are considered an optimal surrogate tissue for the evaluation of spermatogenic function. Unlike the cells of the testis, spermatozoa do not require invasive procedures to procure a sample. A broad range of sperm biomarkers and tests have been described as useful for the assessment of the sperm function. However, these approaches appear limited considering the current state of the art of molecular diagnostics that could be developed for this purpose. In this review, we outline the suite of sperm biomarkers that are currently in use to assess human male fertility status. Their use as indicators of genotoxic exposure will be discussed.

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Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

Cited by 57 publications

References 87 publications

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

Sequential FISH allows the determination of the segregation outcome and the presence of numerical anomalies in spermatozoa from a t(1;8;2)(q42;p21;p15) carrier

Meiotic Chromosome Abnormalities and Spermatic FISH in Infertile Patients with Normal Karyotype

Spermatozoa as biomarkers for the assessment of human male infertility and genotoxicity

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