Genetic testing in male infertility – reassessing screening thresholds
| Autor: | Vanessa N. Peña, Sean A. Fletcher, Taylor P. Kohn, James Liu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Chromosome Aberrations
Male medicine.diagnostic_test business.industry Urology media_common.quotation_subject 030232 urology & nephrology Physiology Genetic Counseling Fertility medicine.disease Cystic fibrosis Male infertility 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis Mutation medicine Humans Mass Screening Genetic Testing business Infertility Male media_common Genetic testing |
| Zdroj: | Current Opinion in Urology. 30:317-323 |
| ISSN: | 0963-0643 |
| DOI: | 10.1097/mou.0000000000000764 |
| Popis: | PURPOSE OF REVIEW Genetic testing in male infertility is an essential part of the process of diagnosis. Genetic abnormalities, such as Y-chromosome microdeletion, chromosomal abnormalities and mutations for cystic fibrosis, can all negatively impact a male's fertility and can be tested for during a fertility evaluation. Both Y-chromosome microdeletion and chromosomal abnormalities increase in prevalence as sperm concentrations decrease, and azoospermic men have the greatest frequency of genetic abnormalities. RECENT FINDINGS These genetic abnormalities can also be found in oligospermic men; however, on the basis of several recent studies, the prevalence of genetic abnormalities is lower in oligospermic men than previously thought. SUMMARY The current screening thresholds are devised from the previously determined prevalences and have not been revised based on the emerging data; thus, in this review of the literature, we will discuss this new evidence and whether screening thresholds should be changed. |
| Databáze: | OpenAIRE |
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