Sperm analysis by fluorescence in situ hybridization

Česká verzia

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

Summary

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

Zdroje

1. Templado C, Bosch M, Benet J. Frequency and distribution of chromosome abnormalities in human spermatozoa. Cytogenet Genome Res 2005; 111(3–4): 199–205.

2. WHO laboratory manual for the examination and processing of human semen. 5^th ed. Geneva: WHO 2010.

3. Rubes J, Vozdova M, Robbins WA et al. Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy. Am J Hum Genet 2002; 70(6): 1507–1519.

4. Rubes J, Vozdova M, Oracova E et al. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res 2005; 111(3–4): 229–236.

5. Tempest HG, Ko E, Rademaker A et al. Intra-individual and inter-individual variations in sperm aneuploidy frequencies in normal men. Fertil Steril 2009; 91(1): 185–192.

6. Perreault SD, Rubes J, Robbins WA et al. Evaluation of aneuploidy and DNA damage in human spermatozoa: applications in field studies. Andrologia 2000; 32(4–5): 247–254.

7. Härkönen K. Pesticides and the induction of aneuploidy in human sperm. Cytogenet Genome Res 2005; 111(3–4): 378–383.

8. Tempest HG, Ko E, Chan P et al. Sperm aneuploidy frequencies analysed before and after chemotherapy in testicular cancer and Hodgkin’s lymphoma patients. Hum Reprod 2008; 23(2): 251–258.

9. Rubes J, Lowe X, Moore D 2nd et al. Smoking cigarettes is associated with increased sperm disomy in teenage men. Fertil Steril 1998; 70(4): 715–723.

10. Sánchez-Castro M, Jiménez-Macedo AR, Sandalinas M et al. Prognostic value of sperm fluorescence in situ hybridization analysis over PGD. Hum Reprod 2009; 24(6): 1516–1521.

11. Rubio C, Gil-Salom M, Simón C et al. Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome. Hum Reprod 2001; 16(10): 2084–2092.

12. Rodrigo L, Rubio C, Peinado V et al. Testicular sperm from patients with obstructive and nonobstructive azoospermia: aneuploidy risk and reproductive prognosis using testicular sperm from fertile donors as control samples. Fertil Steril 2011; 95(3): 1005–1012.

13. Gianaroli L, Magli MC, Cavallini G et al. Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility. Hum Reprod 2005; 20(8): 2140–2152.

14. Milazzo JP, Rives N, Mousset-Siméon N et al. Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males. Hum Reprod 2006; 21(7): 1749–1758.

15. Shi Q, Martin RH. Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature. Am J Med Genet 2000; 93(1): 40–46.

16. Yamamoto Y, Sofikitis N, Mio Y et al. Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter’s syndrome. Hum Reprod 2002; 17(4): 886–896.

17. Staessen C, Tournaye H, Van Assche E et al. PGD in 47,XXY Klinefelter’s syndrome patients. Hum Reprod Update 2003; 9(4): 319–330.

18. Oracova E, Musilova P, Kopecna O et al. Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome. J Androl 2009; 30(3): 233–239.

19. Escudero T, Abdelhadi I, Sandalinas M et al. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril 2003; 79 (Suppl 3): 1528–1534.

20. Stern C, Pertile M, Norris H et al. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod 1999; 14(8): 2097–2101.

21. Morel F, Douet-Guilbert N, Le Bris MJ et al. Meiotic segregation of translocations during male gametogenesis. Int J Androl 2004; 27(4): 200–212.

22. Douet-Guilbert N, Bris MJ, Amice V et al. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl 2005; 28(6): 372–379.

23. Roux C, Tripogney C, Morel F et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res 2005; 111(3–4): 291–296.

24. Boué A, Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 1984; 4: 45–67.

25. Engels H, Eggermann T, Caliebe A et al. Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 2008; 146A(20): 2611–2616.

26. Benet J, Oliver-Bonet M, Cifuentes P et al. Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res 2005; 111(3–4): 281–290.

27. Vozdova M, Oracova E, Horinova V et al. Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18). Hum Reprod 2008; 23(3): 581–588.

28. Vozdova M, Oracova E, Gaillyova R et al. Sperm meiotic segregation and aneuploidy in a 46,X,inv(Y), t(10;15) carrier: case report. Fertil Steril 2009; 92(5): 1748.e9–1748.e13.

29. Anton E, Blanco J, Egozcue J et al. Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res 2005; 111(3–4): 297–304.