Fluorescent in situ hybridization of human sperm Diagnostics indications and therapeutic implications

Capsule:
This article presents a review of the diagnostic and therapeutic indications of sperm fluorescent in situ hybridization and how its use affects treatment of patients with infertility and unfavorable pregnancy outcomes.

Authors:
Ranjith Ramasamy, M.D., Stefan Besada, B.S., Dolores J. Lamb, Ph.D.

Volume 102, Issue 6, Pages 1534-1539

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 to make 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.

  • Dolores Lamb

    Thank you Mary for this positive comment- importantly, it is a cause of recurrent pregnancy loss that is frequently not considered in the evaluation of these couples and many of the men are not sent for a urologic examination. Hopefully this review will raise the level of clinical awareness of this issue.

  • msamplaski

    The role of FISH testing in male fertility has been relatively small, largely due to clinician understanding of its indications. This article is timely and will be useful to a large number of clinicians.

    • ranjithrama

      It is frustrating when we cannot identify an underlying etiology for men with “grossly normal semen parameters” who present with recurrent pregnancy loss or recurrent ART failure. Tests of sperm DNA such as DNA fragmentation / FISH could play an important role in this setting

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