Abstract
Male factor infertility is a relatively common condition, affecting at least 6% of men of reproductive age. Typically, men with unknown genetic abnormalities resort to using assisted reproductive techniques (ART) to achieve their reproductive goals. Infertile men who father biological children using ART could have a higher incidence of aneuploidy, which is a deviation from the normal haploid or diploid chromosomal state. Aneuploidy can be evaluated using fluorescent in situ hybridization (FISH), a cytogenetic assay that gives an estimate of the frequencies of chromosomal abnormalities. The chromosomes that are generally analyzed in FISH (13, 18, 21, X, and Y) are associated with aneuploidies that are compatible with life. The technique is indicated for various reasons but primarily in [1] men who despite normal semen parameters suffer recurrent pregnancy loss, and [2] men with normal semen parameters, who are undergoing in vitro fertilization but still experiencing recurrent implantation failure. As a screening tool, the technique can help in reproductive and genetic counseling of affected couples, or those who have previously experienced failure of ART. A qualitative analysis of FISH study results allows couples tomake informed reproductive choices. Given the increasing clinical use of FISH in various infertility diagnoses, and the development of novel adjunct technologies, one can expect much progress in the areas of preimplantation genetic screening, diagnostics, and therapeutics.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1534-1539 |
| Number of pages | 6 |
| Journal | Fertility and Sterility |
| Volume | 102 |
| Issue number | 6 |
| DOIs | |
| State | Published - Dec 1 2014 |
| Externally published | Yes |
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Keywords
- Aneuploidy
- FISH
- Genetics
- Male infertility
ASJC Scopus subject areas
- Obstetrics and Gynecology
- Reproductive Medicine
Cite this
Fluorescent in situ hybridization of human sperm : Diagnostics, indications, and therapeutic implications. / Ramasamy, Ranjith; Besada, Stefan; Lamb, Dolores J.
In: Fertility and Sterility, Vol. 102, No. 6, 01.12.2014, p. 1534-1539.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fluorescent in situ hybridization of human sperm
T2 - Diagnostics, indications, and therapeutic implications
AU - Ramasamy, Ranjith
AU - Besada, Stefan
AU - Lamb, Dolores J.
PY - 2014/12/1
Y1 - 2014/12/1
N2 - Male factor infertility is a relatively common condition, affecting at least 6% of men of reproductive age. Typically, men with unknown genetic abnormalities resort to using assisted reproductive techniques (ART) to achieve their reproductive goals. Infertile men who father biological children using ART could have a higher incidence of aneuploidy, which is a deviation from the normal haploid or diploid chromosomal state. Aneuploidy can be evaluated using fluorescent in situ hybridization (FISH), a cytogenetic assay that gives an estimate of the frequencies of chromosomal abnormalities. The chromosomes that are generally analyzed in FISH (13, 18, 21, X, and Y) are associated with aneuploidies that are compatible with life. The technique is indicated for various reasons but primarily in [1] men who despite normal semen parameters suffer recurrent pregnancy loss, and [2] men with normal semen parameters, who are undergoing in vitro fertilization but still experiencing recurrent implantation failure. As a screening tool, the technique can help in reproductive and genetic counseling of affected couples, or those who have previously experienced failure of ART. A qualitative analysis of FISH study results allows couples tomake informed reproductive choices. Given the increasing clinical use of FISH in various infertility diagnoses, and the development of novel adjunct technologies, one can expect much progress in the areas of preimplantation genetic screening, diagnostics, and therapeutics.
AB - Male factor infertility is a relatively common condition, affecting at least 6% of men of reproductive age. Typically, men with unknown genetic abnormalities resort to using assisted reproductive techniques (ART) to achieve their reproductive goals. Infertile men who father biological children using ART could have a higher incidence of aneuploidy, which is a deviation from the normal haploid or diploid chromosomal state. Aneuploidy can be evaluated using fluorescent in situ hybridization (FISH), a cytogenetic assay that gives an estimate of the frequencies of chromosomal abnormalities. The chromosomes that are generally analyzed in FISH (13, 18, 21, X, and Y) are associated with aneuploidies that are compatible with life. The technique is indicated for various reasons but primarily in [1] men who despite normal semen parameters suffer recurrent pregnancy loss, and [2] men with normal semen parameters, who are undergoing in vitro fertilization but still experiencing recurrent implantation failure. As a screening tool, the technique can help in reproductive and genetic counseling of affected couples, or those who have previously experienced failure of ART. A qualitative analysis of FISH study results allows couples tomake informed reproductive choices. Given the increasing clinical use of FISH in various infertility diagnoses, and the development of novel adjunct technologies, one can expect much progress in the areas of preimplantation genetic screening, diagnostics, and therapeutics.
KW - Aneuploidy
KW - FISH
KW - Genetics
KW - Male infertility
UR - http://www.scopus.com/inward/record.url?scp=84922010692&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84922010692&partnerID=8YFLogxK
U2 - 10.1016/j.fertnstert.2014.09.013
DO - 10.1016/j.fertnstert.2014.09.013
M3 - Article
C2 - 25439797
AN - SCOPUS:84922010692
VL - 102
SP - 1534
EP - 1539
JO - Fertility and Sterility
JF - Fertility and Sterility
SN - 0015-0282
IS - 6
ER -