AI Article Synopsis
- Infertility affects about 15% of couples trying to conceive, but the genetic and molecular causes are still not fully understood.
- This review focuses on the chromosomal aspects of male infertility, including aneuploidy, karyotype abnormalities, and Y chromosome microdeletions, which contribute to pregnancy loss and developmental issues.
- It aims to connect sperm aneuploidy to embryo aneuploidy, discuss preimplantation genetic diagnosis (PGD), and explore new technologies in PGD for addressing male infertility.
Article Abstract
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735152 | PMC |
| http://dx.doi.org/10.1038/aja.2011.66 | DOI Listing |
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