Scoring of sperm chromosomal abnormalities by manual and automated approaches: qualitative and quantitative comparisons

Abstract

It is now well known that levels of sperm disomy correlate to levels of infertility (as well as other factors). The risk of perpetuating aneuploidy to the offspring of infertile males undergoing intracytoplasmic sperm injection (ICSI) has become a hotly debated issue in assisted reproduction; however, there remain barriers to the practical implementation of offering sperm disomy screening in a clinical setting. The major barrier is the operator time taken to analyze a statistically meaningful (sufficient) number of cells. The introduction of automated 'spot counting' software-hardware combinations presents a potential solution to this problem. In this preliminary validation study, we analyzed 10 patients, both manually and using a commercially available spot counter. Results show a statistically significant correlation between both approaches for scoring of sperm disomy, but no correlation is found when scoring for diploid sperm. The most likely explanation for the latter is an apparent overscoring of two closely associated sperm heads as a single diploid cell. These results, and similar further studies that will ensue, help to inform cost-benefit analyses that individual clinics need to carry out in order to decide whether to adopt sperm aneuploidy screening as a routine tool for the assessment of sperm from men requiring ICSI treatment.

The association between environmental exposure to pyrethroids and sperm aneuploidy

“…In a study of fertility clinic patients who were known reciprocal translocation carriers, XY disomy was as high as 4.1% (Moretti et al, 2009). Additionally, in a recent studies of sperm disomy among andrology clinic patients using automated methods, Tempest et al (2010) and McAuliffe et al (2012) also reported higher total sex-chromosome disomy (averaging between 1.3% and 1.90% total disomy) compared with previously reported ranges (Egozcue et al, 1997). Also the studies performed by Perry et al (2007aPerry et al ( ,b, 2011 which assessed sex chromosome disomy in normozoospermic men from a fertility clinic found higher disomy estimates than previously reported in non-clinical studies.…”

Aneuploidy in Human Spermatozoa

“…The current systems have limitations in the identification of diploid sperm, abnormally shaped cells (teratozoospermic samples) and some of the inconsistencies of human sperm preparations [Molina et al, 2009;Tempest et al, 2010]. In spite of the difficulties with the current procedures there is hope that the automated scoring systems will offer a new tool for the reduction of errors due to inter-scorer evaluation and for the extensive evaluation of chromosome anomalies in spermatozoa.…”

“…In order to standardize the analysis of chromosome abnormalities and minimize interscorer differences, automated systems have been implemented in a variety of human tissues including sperm nuclei [Baumgartner et al, 2001;Carrell and Emery, 2008;Molina et al, 2009;Tempest et al, 2010].…”

Human sperm aneuploidy: FISH analysis in fertile and infertile men

“…Moreover, with the natural progress and technical improvement, and with the introduction of automated system for multicolor FISH scoring [148], we would be able to improve and shorten the time needed for result evaluations, which nowadays implies many hours of microscope viewing and is potentially dependent on the interoperator variability.…”