The use of fluorescent in situ hybridization in male infertility
Open accessAbstract
Male factors are implicated in up to 50% of couples being evaluated and treated for infertility with advanced assisted reproductive technologies. Genetic abnormalities, including sperm chromosome aneuploidy as well as structural aberrations, are one of the major causes of infertility. The use of chromosome-specific DNA probes labeled with fluorochromes, particularly the combination with multiple probes, has been used to indirectly study the sperm chromosome by fluorescent in situ hybridization (FISH). Clinically, this technique is also used to assess the sperm of men recovering from gonadotoxic treatment. Recent advances in this technology facilitate the evaluation of sperm aneuploidy. Sperm FISH is a widely used screening tool to aid in counseling couples with severe male factor infertility, especially in cases of prior repeated in vitro fertilization/intracytoplasmic sperm injection failure or recurrent pregnancy loss. Automation of FISH imaging and analysis, as well as the development of emerging techniques such as comparative genomic hybridization, will all contribute to the promise of future diagnostic approaches aimed at improving the quality, ease, and efficiency of aneuploidy analysis.
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FISH is commonly used in the assessment of chromosomal aneuploidy involving chromosomes 13, 18, 21, X, and Y, which usually result in viable but defective births.
“FISH is commonly used in the assessment of chromosomal aneuploidy involving chromosomes 13, 18, 21, X, and Y, which usually result in viable but defective births [36].”
From The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis (2021) · cites this paper as [36]
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Research works printed but not linked: 6
- Adler, I.D., Schmid, T.E. and Baumgartner, A. (2002) Induction of aneuploidy in male mouse germ cells detected by the sperm-FISH assay: a review of the present data base. Mutat Res 504: 173182.
- Chandra, A., Martinez, G.M., Mosher, W.D., Abma, J.C. and Jones, J. (2005) Fertility, family planning, and reproductive health of U.S. women: data from the 2002 National Survey of Family Growth. National Center for Health Statistics. Vital Health Stat 23(25): 1160.
- Egozcue, J., Blanco, J., Anton, E., Egozcue, S., Sarrate, Z. and Vidal, F. (2003) Genetic analysis of sperm and implications of severe male infertility-a review. Placenta 24(Suppl B): S62S65.
- Hansen, M., Bower, C., Milne, E., de Klerk, N. and Kurinczuk, J.J. (2005) Assisted reproductive technol- ogies and the risk of birth defects-a systematic review. Hum Reprod 20: 328338.
- Martin, R.H. (2007) The clinical relevance of sperm aneuploidy, In: Carrell, D. (ed.), The Genetics of Male Infertility, Humana Press: Totowa, NJ, pp. 127144.
- Shi, Q., Schmid, T.E. and Adler, I. (1999) Griseofulvin-induced aneuploidy and meiotic delay in Visit SAGE journals online http://tau.sagepub.com male mouse germ cells: detected by using conventional cytogenetics and three-color FISH. Mutat Res 441: 181190.
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The Sixth Edition of the WHO Manual for Human Semen Analysis: A Critical Review and SWOT Analysis
Boitrelle, F., Shah, R., Saleh, R., Henkel, R., Kandil, H., Chung, E., Vogiatzi, P., Zini, A., Arafa, M., & Agarwal, A. (2021) · Life · doi:10.3390/life11121368 · Cited by 271 · see citing works
“FISH is commonly used in the assessment of chromosomal aneuploidy involving chromosomes 13, 18, 21, X, and Y, which usually result in viable but defective births [36].”
Method
- Authors
- Hwang, K., Weedin, J. W., & Lamb, D. J.
- Affiliations
- Baylor College of Medicine (US)
- Venue
- Therapeutic Advances in Urology
- Publisher
- SAGE Publications
- Published
- 2010-06-18
- Volume
- 2
- Issue
- 4
- Pages
- 157-169
- ISSN
- 1756-2872 (ISSN-L)
- 1756-2880
- PMC
- PMC3126079
- OpenAlex
- W2099315033
- Cited by
- 33
- References
- 0
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 2 · 2023: 3 · 2021: 3 · 2020: 2 · 2018: 1 · 2017: 4 · 2016: 4 · 2015: 3 · 2014: 4 · 2012: 1
- FWCI
- 0.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Therapeutic Advances in Urology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK078121, K12DK083014)
- National Institute of Child Health and Human Development (P01HD36289)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD036289, P01 HD 36289)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- male infertility, sperm DNA fragmentation, gonadotoxicity, recurrent pregnancy loss, in vitro fertilization failure, comparative genomic hybridization, genetic counseling
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