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Curr Opin Urol. 2020 Mar 19. doi: 10.1097/MOU.0000000000000764. [Epub ahead of print]

Genetic testing in male infertility - reassessing screening thresholds.

Author information

1
The James Buchanan Brady Urological Institute and Department of Urology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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.

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