Study of Karyotyping and Y Chromosome Microdeletionscreening in Infertile Males with Azoospermia and Oligozoospermia Prior to Art

Varma, Anuj; Verma, Neha; Acharya, Neema; Nadkarni, Akshay

doi:10.31782/ijcrr.2020.12168

Cited by 3 publications

(1 citation statement)

References 2 publications

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“…Moreover, karyotyping is recommended before undergoing assisted reproductive treatment. It could be useful not only for detecting the cause for male infertility, but it could also establish a balanced chromosomal rearrangement, thus preventing a potential miscarriage or birth of children with multiple anomalies [19]. Another step before ordering NGS testing for the patient could be analysis for Y microdeletions, since the test is simple and informative, especially in cases of azoospermia or severe oligozoospermia [20].…”

Section: Discussionmentioning

confidence: 99%

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2022

Russ Open Med J

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Aim -Infertility is a global health problem. The next-generation sequencing and panel testing are offering new opportunities to further diagnose the reason for male infertility. The aim of this paper is to provide a better insight into the currently available panels for male infertility due to impaired spermatogenesis. Methods -We conducted research in the Genetic testing registry by using the keywords "infertility", "male infertility". We also gathered information about the number of tested genes, coverage of the panels, turnaround time, and any additional tests, which could be ordered. Results -As a result there were eleven laboratories, offering panel testing for male infertility, which tested for 230 different genes, but 65 genes (28.26%) from the different panels had an uncertain role for the tested condition. Cystic fibrosis transmembrane conductance regulator was the only gene, suggested by all laboratories. Conclusions -Next-generation sequencing could be extremely helpful in the diagnostic process of male infertility. However, clinicians should be aware that some of the included genes have an uncertain role for male infertility.

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Section: Discussionmentioning

confidence: 99%

Untitled

2022

Russ Open Med J

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Overview Of Current NGS Testing For Male Factor Infertility

et al. 2022

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Aim — Infertility is a global health problem. The next-generation sequencing and panel testing are offering new opportunities to further diagnose the reason for male infertility. The aim of this paper is to provide a better insight into the currently available panels for male infertility due to impaired spermatogenesis. Methods — We conducted research in the Genetic testing registry by using the keywords „infertility“, „male infertility“. We also gathered information about the number of tested genes, coverage of the panels, turnaround time, and any additional tests, which could be ordered. Results — As a result there were eleven laboratories, offering panel testing for male infertility, which tested for 230 different genes, but 65 genes (28.26%) from the different panels had an uncertain role for the tested condition. Cystic fibrosis transmembrane conductance regulator was the only gene, suggested by all laboratories. Conclusions — Next-generation sequencing could be extremely helpful in the diagnostic process of male infertility. However, clinicians should be aware that some of the included genes have an uncertain role for male infertility.

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