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Published-Ahead-of-Print August 9, 2006, DOI:10.2164/jandrol.106.000067
Journal of Andrology, Vol. 28, No. 1, January/February 2007
Copyright © American Society of Andrology
DOI: 10.2164/jandrol.106.000067

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Increased Aneuploidy Rate in Sperm With Fragmented DNA as Determined by the Sperm Chromatin Dispersion (SCD) Test and FISH Analysis

LOURDES MURIEL*, VICENTE GOYANES*,{dagger}, ENRIQUE SEGRELLES{dagger}, JAIME GOSÁLVEZ{ddagger}, JUAN G. ALVAREZ§ AND JOSÉ LUIS FERNÁNDEZ*,{dagger}

From the * Sección de Genética y Unidad de Investigación, Complejo Hospitalario Universitario Juan Canalejo, A Coruña, Spain; the {dagger} ARGGORA Unidad de la Mujer, A Coruña, Spain; the {ddagger} Unidad de Genética, Facultad de Biología, Universidad Autónoma de Madrid, Spain; and the § Centro de Infertilidad Masculina ANDROGEN, A Coruña, Spain.

Correspondence to: Dr José Luis Fernández, Sección de Genética y Unidad de Investigación, Complejo Hospitalario Universitario Juan Canalejo, As Xubias, 84, 15006-A Coruña, Spain (e-mail: JLFernandez{at}canalejo.org or genetica{at}cog.es).


Previous studies suggest that sperm DNA fragmentation may be associated with aneuploidy. However, currently available tests have not made it possible to simultaneously perform DNA fragmentation and chromosomal analyses on the same sperm cell. The recently introduced sperm chromatin dispersion (SCD) test allows users to determine this relationship. Semen samples from 16 males, including 4 fertile donors, 7 normozoospermic, 3 teratozoospermic, 1 asthenozoospermic, and 1 oligoasthenoteratozoospermic, were processed for DNA fragmentation analysis by the SCD test using the Halosperm kit. Three-color fluorescence in situ hybridization (FISH) was performed on SCD-processed slides to determine aneuploidy for chromosomes X, Y, and 18. Spermatozoa with DNA fragmentation showed a 4.4 ± 1.9-fold increase in diploidy rate and a 5.9 ± 3.5-fold increase in disomy rate compared to spermatozoa without DNA fragmentation. The overall aneuploidy rate was 4.6 ± 2.0-fold higher in sperm with fragmented DNA (Wilcoxon rank test: P < .001 in the 3 comparisons). A higher frequency of DNA fragmentation was found in sperm cells containing sex chromosome aneuploidies originated in both first and second meiotic divisions. The observed increase in aneuploidy rate in sperm with fragmented DNA may suggest that the occurrence of aneuploidy during sperm maturation may lead to sperm DNA fragmentation as part of a genomic screening mechanism developed to genetically inactivate sperm with a defective genomic makeup.

     Key words: Human, fragmentation




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D. T. Carrell
The Clinical Implementation of Sperm Chromosome Aneuploidy Testing: Pitfalls and Promises
J Androl, March 1, 2008; 29(2): 124 - 133.
[Abstract] [Full Text] [PDF]


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