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Sperm DNA Aneuploidy: COMING WINTER 2021

What is sperm DNA aneuploidy?

Typically sperm will have either 22 + X or 22 + Y chromosomes. Addition or loss of a single chromosome results in sperm aneuploidy. Sperm aneuploidy occurs due to errors during meiosis. Even perfectly fertile men have sperm with DNA aneuploidy, with aneuploidy rates between 0.1 – 0.5% per chromosome per sperm. Aneuploidy rates may be 2 to 10 times higher in men with abnormal semen parameters and sperm defects.

Which men are more likely to have abnormally high sperm DNA aneuploidy?

Men with male infertility, abnormal karyotypes, advancing paternal age, smoking, obesity and exposure to chemicals.

What is the effect of high sperm aneuploidy on reproduction?

Increased risk of impaired embryo development, reduced pregnancy rates (unsuccessful ICSI and IVF treatment), recurrent pregnancy loss, and increased risk of abnormalities in newborns.

How is sperm aneuploidy measured?

Fluorescent in situ hybridization (FISH) is used to label individual chromosomes with specific probes. An automated scanner is then used to record thousands of sperm and then an image analyzer is used to find the frequency of aneuploidy in individual chromosomes.

Which chromosomes are analyzed?

Standard panel: chromosomes 13, 18, 21, X and Y
Recurrent pregnancy loss panel: chromosomes 2, 13, 15, 16, 18, 21, X and Y

Who might benefit from sperm aneuploidy studies?

Men with unexplained infertility, multiple failed ICSI/IVF treatment, recurrent pregnancy loss, advanced paternal age.

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References:

Templado, C., Uroz, L. & Estop, A. New insights on the origin and relevance of aneuploidy in human spermatozoa. Molecular human reproduction 19, 634-643, (2013).

Tempest, H. G. Meiotic recombination errors, the origin of sperm aneuploidy and clinical recommendations. Systems biology in reproductive
medicine 57, 93-101, (2011).

Sarrate, Z., Vidal, F. & Blanco, J. Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertility and sterility 93, 1892-1902, (2010).

Rubio, C. et al. Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome. Human reproduction 16, 2084-2092, (2001).