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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 3/2019

01-03-2019 | Infertility | Review

Male infertility: establishing sperm aneuploidy thresholds in the laboratory

Authors: Elena García-Mengual, Juan Carlos Triviño, Alba Sáez-Cuevas, Juan Bataller, Miguel Ruíz-Jorro, Xavier Vendrell

Published in: Journal of Assisted Reproduction and Genetics | Issue 3/2019

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Abstract

Purpose

Fluorescence in situ hybridization (FISH) in spermatozoa provides an estimate of the frequency of chromosomal abnormalities, but there is not a clinical consensus on how to statistically analyze sperm FISH results. We therefore propose a statistical approach to establish sperm aneuploidy thresholds in a fertile population.

Methods

We have determined the distribution and variation of the frequency of nullisomy, disomy, and diploidy for a set of 13 chromosomes (1, 2, 9, 13, 15, 16, 17, 18, 19, 21, 22, X, and Y) in sperm nuclei from 14 fertile men by means of automatized FISH. The dispersion of data has been analyzed by the non-parametric Wilcoxon Rank Sum test. We have established the threshold values for each chromosome and aneuploidy type on the basis of the confidence interval values (99.9%).

Results

Nullisomy thresholds ranged from 0.49% for chromosome 19 to 3.09% for chromosome 22; disomy thresholds ranged from 0.30% for chromosome 21 to 1.47% for chromosome 15; diploidy thresholds ranged from 0.24% for the 9/19 chromosome set to 1.21% for the 13/21 chromosome set.

Conclusions

Applying this approach with clinical purposes will enable us to categorize the patient as altered or normal regarding his sperm aneuploidy. Any result surpassing the cited threshold values indicates a 99.9% probability of being significantly different from fertile controls.
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Metadata
Title
Male infertility: establishing sperm aneuploidy thresholds in the laboratory
Authors
Elena García-Mengual
Juan Carlos Triviño
Alba Sáez-Cuevas
Juan Bataller
Miguel Ruíz-Jorro
Xavier Vendrell
Publication date
01-03-2019
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 3/2019
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-018-1385-0

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