Genetic testing in male infertility – reassessing screening thresholds. Issue 3 (May 2020)

• Record Type: Journal Article
• Authors: Liu, James L.; Peña, Vanessa; Fletcher, Sean A.; Kohn, Taylor P.
• Is Part Of: Current opinion in urology. Volume 30:Issue 3(2020:May)
• Publication Date: 2020-05
• Subjects: abnormalities -- chromosomal -- cystic fibrosis -- gene deletion -- genetics -- infertility -- Y chromosome; Urology -- Periodicals; Review Literature -- Bibliography; Review Literature -- Periodicals; Male Urogenital Diseases -- Bibliography; Male Urogenital Diseases -- Periodicals; Female Urogenital Diseases -- Bibliography; Female Urogenital Diseases -- Periodicals; Urologic Diseases -- Bibliography; Urologic Diseases -- Periodicals; Periodicals; 616.6005
• DOI: 10.1097/MOU.0000000000000764
• Languages: English
• ISSNs: 1473-6586

Abstract

Abstract : 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.