The clinical implementation of sperm chromosome aneuploidy testing: pitfalls and promises.
Severe male infertility has been shown to be associated with improper meiotic recombination and elevated sperm chromosome aneuploidy. Elevated sperm aneuploidy increases the risk of embryo lethality or fetal anomalies. Although difficulties in interpreting aneuploidy data still exist, advances in fluorescent in situ hybridization (FISH) technology have facilitated the study of sperm from patients with severe spermatogenesis defects, which has demonstrated the prudence of evaluating sperm chromosome aneuploidy in men with severe male factor infertility, such as nonobstructive azoospermia or severe ultrastructure defects, especially in cases of previous repeated in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) failure. Testing is also advisable in men with chromosome translocations and unexplained recurrent pregnancy loss, and it may be beneficial in patients with unexplained, repeated IVF failure. Automated FISH imaging and analysis technology is now available and is beneficial in reducing technician time analyzing sperm aneuploidy. Emerging technologies, such comparative genomic hybridization, may be beneficial in further improving the quality of data derived from aneuploidy analysis and reducing the cost of the assay.
Carrell
Douglas T
DT
Andrology and IVF Laboratories, Department of Surgery ( Urology ), University of Utah School of Medicine, Salt Lake City, UT 84108, USA. douglas.carrell@hsc.utah.edu
D000782:Aneuploidy; D000818:Animals; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006224:Cricetinae; D020732:Cytogenetic Analysis / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000175:diagnosis*; D008297:Male; D016133:Polymerase Chain Reaction; D013094:Spermatozoa / Q000473:pathology*