Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

Fertility and Sterility

Volumn 93, Issue 6, 2010, Pages 1892-1902

  Sarrate, Zaida ^a   Vidal, Francesca ^a   Blanco, Joan ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

Chromosome abnormalities; clinical relevance; indications; male infertility; sperm FISH; study approach

Indexed keywords

ADULT; ARTICLE; CHROMOSOME; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME ABERRATION; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MEIOSIS; OLIGOASTHENOTERATOZOOSPERMIA; OLIGOASTHENOZOOSPERMIA; OLIGOSPERMIA; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RISK FACTOR; SEMEN ABNORMALITY; SEMEN ANALYSIS; SEX CHROMOSOME; SOMATIC CELL; SPAIN; SPERM; SPERMATOZOON COUNT; X CHROMOSOME; Y CHROMOSOME;

ADULT; CASE-CONTROL STUDIES; CHROMOSOME ABERRATIONS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY, MALE; MALE; MIDDLE AGED; PREDICTIVE VALUE OF TESTS; RETROSPECTIVE STUDIES; SEMEN ANALYSIS; SPERMATOZOA; YOUNG ADULT;

EID: 77949918555     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.12.139     Document Type: Article

References (86)

1. Hassold T., and Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2 (2001) 280-291
2. Egozcue J., Sarrate Z., Codina-Pascual M., Egozcue S., Oliver-Bonet M., Blanco J., et al. Meiotic abnormalities in infertile males. Cytogenet Genome Res 111 (2005) 337-342
3. Martin R.H. Meiotic chromosome abnormalities in human spermatogenesis. Reprod Toxicol 22 (2006) 142-147
4. Burrello N., Vicari E., and Calogero A.E. Chromosome abnormalities in spermatozoa of patients with azoospermia and normal somatic karyotype. Cytogenet Genome Res 111 (2005) 363-365
5. Machev N., Gosset P., and Viville S. Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia. Cytogenet Genome Res 111 (2005) 352-357
6. Miharu N. Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: oligozoospermia. Cytogenet Genome Res 111 (2005) 347-351
7. Rives N.M. Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: asthenozoospermia. Cytogenet Genome Res 111 (2005) 358-362
8. Sarrate Z., Blanco J., Anton E., Egozcue S., Egozcue J., and Vidal F. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling. Asian J Androl 7 (2005) 227-236
9. Tempest H.G., and Griffin D.K. The relationship between male infertility and increased levels of sperm disomy. Cytogenet Genome Res 107 (2004) 83-94
10. World Health Organization. WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction (1992), Cambridge University Press, New York
11. Evans E.P., Breckon G., and Ford C.E. An air-drying method for meiotic preparations from mammalian testes. Cytogenetics 15 (1964) 289-294
12. Vidal F., Moragas M., Català V., Torelló M.J., Santaló J., Calderón G., et al. Sephadex filtration and human serum albumin gradients do not select spermatozoa by sex chromosome: a fluorescent in-situ hybridization study. Hum Reprod 8 (1993) 1740-1743
13. Blanco J., Egozcue J., and Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization. Hum Reprod 11 (1996) 722-726
14. Egozcue J., Blanco J., Anton E., Egozcue S., Sarrate Z., and Vidal F. Genetic analysis of sperm and implications of severe male infertility-a review. Placenta 24 (2003) S62-S65
15. Burrello N., Arcidiacono G., Vicari E., Asero P., Di Benedetto D., De Palma A., et al. Morphologically normal spermatozoa of patients with secretory oligo-astheno-teratozoospermia have an increased aneuploidy rate. Hum Reprod 19 (2004) 2298-2302
16. Bernardini L.M., Calogero A.E., Bottazzi C., Lanteri S., Venturini P.L., Burrello N., et al. Low total normal motile count values are associated with increased sperm disomy and diploidy rates in infertile patients. Int J Androl 28 (2005) 328-336
17. Gianaroli L., Magli M.C., Cavallini G., Crippa A., Nadalini M., Bernardini L., et al. Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility. Hum Reprod 20 (2005) 2140-2152
18. Faure A.K., Aknin-Seifer I., Frérot G., Pelletier R., De Robertis C., Cans C., et al. Predictive factors for an increased risk of sperm aneuploidies in oligo-astheno-teratozoospermic males. Int J Androl 30 (2007) 153-162
19. Durakbasi-Dursun H.G., Zamani A.G., Kutlu R., Görkemli H., Bahce M., and Acar A. A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set. Fertil Steril 89 (2008) 1709-1717
20. Finkelstein S., Mukamel E., Yavetz H., Paz G., and Avivi L. Increased rate of nondisjunction in sex cells derived from low-quality semen. Hum Genet 102 (1998) 129-137
21. McInnes B., Rademaker A., Greene C.A., Ko E., Barclay L., and Martin R.H. Abnormalities for chromosomes 13 and 21 detected in spermatozoa from infertile men. Hum Reprod 13 (1998) 2787-2790
22. Nishikawa N., Murakami I., Ikuta K., and Suzumori K. Sex chromosomal analysis of spermatozoa from infertile men using fluorescence in situ hybridization. J Assist Reprod Genet 17 (2000) 97-102
23. Ohashi Y., Miharu N., Honda H., Samura O., and Ohama K. High frequency of XY disomy in spermatozoa of severe oligozoospermic men. Hum Reprod 16 (2001) 703-708
24. Nagvenkar P., Zaveri K., and Hinduja I. Comparison of the sperm aneuploidy rate in severe oligozoospermic and oligozoospermic men and its relation to intracytoplasmic sperm injection outcome. Fertil Steril 84 (2005) 925-931
25. Rives N., Saint Clair A., Mazurier S., Sibert L., Simeon N., Joly G., and Mace B. Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet 105 (1999) 266-272
26. Vegetti W., Van Assche E., Frias A., Verheyen G., Bianchi M.M., Bonduelle M., et al. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod 15 (2000) 351-365
27. Calogero A.E., De Palma A., Grazioso C., Barone N., Romeo R., Rappazzo G., et al. Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters. Hum Reprod 16 (2001) 1172-1179
28. Martin R.H., Rademaker A.W., Greene C., Ko E., Hoang T., Barclay L., et al. A comparison of the frequency of sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia. Biol Reprod 69 (2003) 535-539
29. Hunt P.A., and Hassold T.J. Sex matters in meiosis. Science 296 (2002) 2181-2183
30. Collodel G., Capitani S., Baccetti B., Pammolli A., and Moretti E. Sperm aneuploidies and low progressive motility. Hum Reprod 22 (2007) 1893-1898
31. Aran B., Blanco J., Vidal F., Vendrell J.M., Egozcue S., Barri P.N., et al. Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program. Fertil Steril 72 (1999) 696-701
32. Hristova R., Ko E., Greene C., Rademaker A., Chernos J., and Martin R. Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. Biol Reprod 66 (2002) 1781-1783
33. Rubio C., Gil-Salom M., Simon C., Vidal F., Rodrigo L., Minguez Y., et al. Incidence of sperm chromosomal abnormalities in a risk population: relationship with sperm quality and ICSI outcome. Hum Reprod 16 (2001) 2084-2092
34. Gole L.A., Wong P.F., Ng P.L., Wang X.Q., Ng S.C., and Bongso A. Does sperm morphology play a significant role in increased sex chromosomal disomy? A comparison between patients with teratozoospermia and OAT by FISH. J Androl 22 (2001) 759-763
35. Härkönen K., Suominen J., and Lähdetie J. Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl 24 (2001) 197-205
36. Templado C., Hoang T., Greene C., Rademaker A., Chernos J., and Martin R. Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev 61 (2002) 200-204
37. Sun F., Ko E., and Martin R.H. Is there a relationship between sperm chromosome abnormalities and sperm morphology?. Reprod Biol Endocrinol 4 (2006) 1
38. Strassburger D., Reichart M., Kaufman S., Kasterstein E., Komarovsky D., Bern O., et al. Morphology assessment and fluorescence in situ hybridization of the same spermatozoon using a computerized cell-scanning system. Hum Reprod 22 (2007) 201-209
39. Oliver-Bonet M., Benet J., Sun F., Navarro J., Abad C., Liehr T., et al. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod 20 (2005) 683-688
40. Lejeune J. Autosomal disorders. Pediatrics 32 (1963) 326-337
41. Blanco J., Egozcue J., and Vidal F. Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet 106 (2000) 500-505
42. Anton E., Blanco J., Egozcue J., and Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Hum Reprod 19 (2004) 1345-1351
43. Douet-Guilbert N., Bris M.J., Amice V., Marchetti C., Delobel B., Amice J., et al. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl 28 (2005) 372-379
44. Machev N., Gosset P., Warter S., Treger M., Schillinger M., and Viville S. Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect. Fertil Steril 84 (2005) 365-373
45. Kirkpatrick G., Ferguson K.A., Gao H., Tang S., Chow V., Yuen B.H., et al. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod 23 (2008) 1679-1683
46. Honda H., Miharu N., Ohashi Y., Honda N., Hara T., and Ohama K. Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization. Hum Genet 105 (1999) 428-436
47. Rives N., Jarnot M., Mousset-Siméon N., Joly G., and Macé B. Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier. J Hum Genet 48 (2003) 535-540
48. Anton E., Vidal F., Egozcue J., and Blanco J. Preferential alternate segregation in the common t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis in two brothers. Reprod Biomed Online 9 (2004) 637-644
49. Anton E., Vidal F., and Blanco J. Reciprocal translocations: tracing their meiotic behaviour. Genet Med 10 (2008) 730-738
50. Anton E., Blanco J., Egozcue J., and Vidal F. Risk assessment and segregation analysis in a pericentric inversion inv6p23q25 carrier using FISH on decondensed sperm nuclei. Cytogenet Genome Res 97 (2002) 149-154
51. Anton E., Vidal F., Egozcue J., and Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril 85 (2006) 661-666
52. Boué J., Taillemite J.L., Hazael-Massieux P., Léonard C., and Boué A. Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Humangenetik 30 (1975) 217-224
53. Teo S.H., Tan M., Knight L., Yeo S.H., and Ng I. Pericentric inversion 9-incidence and clinical significance. Ann Acad Med Singapore 24 (1995) 302-304
54. Collodel G., Moretti E., Capitani S., Piomboni P., Anichini C., Estenoz M., et al. TEM, FISH and molecular studies in infertile men with pericentric inversion of chromosome 9. Andrologia 38 (2006) 122-127
55. Eiben B., Leipoldt M., Rammelsberg O., Krause W., and Engel W. High incidence of minor chromosomal variants in teratozoospermic males. Andrologia 19 (1987) 684-687
56. Nakamura Y., Kitamura M., Nishimura K., Koga M., Kondoh N., Takeyama M., et al. Chromosomal variants among 1790 infertile men. Int J Urol 8 (2001) 49-52
57. Penna Videaú S., Araujo H., Ballesta F., Ballescá J.L., and Vanrell J.A. Chromosomal abnormalities and polymorphisms in infertile men. Arch Androl 46 (2001) 205-210
58. Yakin K., Balaban B., and Urman B. Is there a possible correlation between chromosomal variants and spermatogenesis?. Int J Urol 12 (2005) 984-989
59. Martin R.H. Meiotic errors in human oogenesis and spermatogenesis. Reprod Biomed Online 16 (2008) 523-531
60. Blanco J., Egozcue J., and Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 16 (2001) 887-892
61. Blanco J., Farreras A., Egozcue J., and Vidal F. Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization. Fertil Steril 79 (2003) 913-918
62. Buwe A., Guttenbach M., and Schmid M. Effect of paternal age on the frequency of cytogenetic abnormalities in human spermatozoa. Cytogenet Genome Res 111 (2005) 213-228
63. Rubes J., Vozdova M., Oracova E., and Perreault S.D. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res 111 (2005) 229-236
64. Wyrobek A.J., Eskenazi B., Young S., Arnheim N., Tiemann-Boege I., Jabs E.W., et al. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci U S A 103 (2006) 9601-9606
65. Plastira K., Angelopoulou R., Mantas D., Msaouel P., Lyrakou S., Plastiras A., et al. The effects of age on the incidence of aneuploidy rates in spermatozoa of oligoasthenozoospermic patients and its relationship with ICSI outcome. Int J Androl 30 (2007) 65-72
66. Guttenbach M., Martinez-Expósito M.J., Michelmann H.W., Engel W., and Schmid M. Incidence of diploid and disomic sperm nuclei in 45 infertile men. Hum Reprod 12 (1997) 468-473
67. Bernardini L., Borini A., Preti S., Conte N., Flamigni C., Capitanio G.L., et al. Study of aneuploidy in normal and abnormal germ cells from semen of fertile and infertile men. Hum Reprod 13 (1998) 3406-3413
68. Asada H., Sueoka K., Hashiba T., Kuroshima M., Kobayashi N., and Yoshimura Y. The effects of age and abnormal sperm count on the nondisjunction of spermatozoa. J Assist Reprod Genet 17 (2000) 51-59
69. Moosani N., Pattinson H.A., Carter M.D., Cox D.M., Rademaker A.W., and Martin R.H. Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil Steril 64 (1995) 811-817
70. Carrell D.T., Emery B.R., and Liu L. Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril 71 (1999) 511-516
71. Pang M.G., Hoegerman S.F., Cuticchia A.J., Moon S.Y., Doncel G.F., Acosta A.A., et al. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod 14 (1999) 1266-1273
72. Pfeffer J., Pang M.G., Hoegerman S.F., Osgood C.J., Stacey M.W., Mayer J., et al. Aneuploidy frequencies in semen fractions from ten oligoasthenoteratozoospermic patients donating sperm for intracytoplasmic sperm injection. Fertil Steril 72 (1999) 472-478
73. Martin R.H., Greene C., Rademaker A., Barclay L., Ko E., and Chernos J. Chromosome analysis of spermatozoa extracted from testes of men with non-obstructive azoospermia. Hum Reprod 15 (2000) 1121-1124
74. Ushijima C., Kumasako Y., Kihaile P.E., Hirotsuru K., and Utsunomiya T. Analysis of chromosomal abnormalities in human spermatozoa using multi-colour fluorescence in-situ hybridization. Hum Reprod 15 (2000) 1107-1111
75. Carrell D.T., Wilcox A.L., Udoff L.C., Thorp C., and Campbell B. Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. Fertil Steril 76 (2001) 1258-1260
76. Levron J., Aviram-Goldring A., Madgar I., Raviv G., Barkai G., and Dor J. Sperm chromosome abnormalities in men with severe male factor infertility who are undergoing in vitro fertilization with intracytoplasmic sperm injection. Fertil Steril 76 (2001) 479-484
77. Martin R.H., Greene C., and Rademaker A.W. Sperm chromosome aneuploidy analysis in a man with globozoospermia. Fertil Steril 79 (2003) 1662-1664
78. Tempest H.G., Homa S.T., Dalakiouridou M., Christopikou D., Wright D., Zhai X.P., et al. The association between male infertility and sperm disomy: evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs. Reprod Biol Endocrinol 2 (2004) 82
79. Pang M.G., Kim Y.J., Lee S.H., and Kim C.K. The high incidence of meiotic errors increases with decreased sperm count in severe male factor infertilities. Hum Reprod 20 (2005) 1688-1694
80. Mehdi M., Smatti B., Saad A., Guerin J.F., and Benchaib M. Analysis by fluorescence in situ hybridization (FISH) of the relationship between gonosomic aneuploidy and the results of assisted reproduction in men with severe oligozoospermia. Andrologia 38 (2006) 137-141
81. Martin R.H., and Rademaker A. The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements. Cytogenet Cell Genet 53 (1990) 103-107
82. Ferguson K.A., Wong E.C., Chow V., Nigro M., and Ma S. Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy. Hum Mol Genet 16 (2007) 2870-2879
83. Burrello N., Vicari E., Shin P., Agarwal A., De Palma A., Grazioso C., et al. Lower sperm aneuploidy frequency is associated with high pregnancy rates in ICSI programmes. Hum Reprod 18 (2003) 1371-1376
84. Nicopoullos J.D., Gilling-Smith C., Almeida P.A., Homa S., Nice L., Tempest H., et al. The role of sperm aneuploidy as a predictor of the success of intracytoplasmic sperm injection?. Hum Reprod 23 (2008) 240-250
85. Bonduelle M., Van Assche E., Joris H., Keymolen K., Devroey P., Van Steirteghem A., et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 17 (2002) 2600-2614
86. Devroey P., and Van Steirteghem A. A review of ten years experience of ICSI. Hum Reprod Update 10 (2004) 19-28