Sperm analysis by fluorescence in situ hybridization

Authors: M. Vozdová ;  J. Rubeš
Authors‘ workplace: Výzkumný ústav veterinárního lékařství, v. v. i., Brno
Published in: Prakt Gyn 2011; 15(3-4): 162-166
Category: Review Article


The fluorescence in situ hybridization (FISH) method allows detection of frequencies of chromosomally abnormal spermatozoa in semen. Baseline levels of disomies for different chromosomes (0.03–0.47%) detected by FISH method in sperm from normal healthy donors have previously been published. Semen of healthy men usually contains approximately 7% of chromosomally abnormal spermatozoa, with aneuploidies of chromosomes 21, X and Y being the most frequent. However, a significant inter-individual variability was observed. Higher frequencies of numerical aberrations are often found in men with abnormal semen characteristics, in carriers of congenital chromosomal abnormalities (numerical sex chromosome aberrations, marker chromosomes, balanced translocations and inversions) and in sperm obtained by TESE. Sperm evaluation by the FISH method is of benefit especially for carriers of congenital reciprocal and Robertsonian translocations, or of some pericentric inversions. Published frequencies of chromosomally unbalanced sperm range from 0–37% in carriers of pericentric inversions, 3–40% in carriers of Robertsonian translocations and even 23–81% in carriers of reciprocal translocations. Assessment of frequencies of chromosomally abnormal spermatozoa allows personalized risk estimation in individual patients, making informed decisions concerning family planning and the prediction of IVF cycle outcome.

Key words:
spermatozoa – FISH – chromosomal aberation – balanced translocation – inversion


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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