Abstract
BackgroundApproximately 1% of the spermatozoa found in ejaculate of healthy men are aneuploid and this rate increases in the population of subfertile and infertile men. Moreover, fertilization with these aneuploid sperm can lead to impaired embryo development. Fluorescent In Situ Hybridization (FISH) is the common cytogenetic tool used for aneuploidy screening on sperm. However, it is a time-consuming technique and cytogenetic or in vitro fertilization laboratories cannot routinely use it and face the increasing demand of such analyses before Assisted Reproductive Techniques (ART). As automation can be a clue for routine practice, this study compares manual and automated scoring of sperm aneuploidy rates using a Metafer Metasystems® device. The results obtained also contribute to global data about FISH on sperm cells.MethodsWe recruited 100 men addressed for sperm cryopreservation. They all signed an informed consent to participate in the study. 29 men were donors or consulted before vasectomy (control group) and 71 were suffering of Hodgkin’s disease or non Hodgkin lymphoma (patient group). One semen sample was collected for each patient, analyzed according to WHO criteria and prepared for a triple-color FISH using centromeric probes for chromosomes 18, X and Y. Automated scoring was performed using a Metafer Metasystems® device.Results507,019 cells were scored. We found a strong concordance between the automated and the manual reading (d < 0.01 in Bland-Altman test). We also did not find a statistically significant difference between the automated and the manual reading using Wilcoxon test for total aneuploidy rate (p = 0.06), sex chromosomes disomy (p = 0.33), chromosome 18 disomy (p = 0.39) and diploidy (p = 0.21). Cumulative rate of total aneuploidy was 0.78% ± 0.212% for patient group and 0.54% ± 0.15 for control group and among this, sex chromosome XY disomy rate was of 0.54% for patient group and 0.27% for control group.ConclusionThis study validates the automated reading for FISH on sperm with a Metafer Metasystems® device and allows its use in a laboratory routine.
Highlights
1% of the spermatozoa found in ejaculate of healthy men are aneuploid and this rate increases in the population of subfertile and infertile men
The development of intracytoplasmic sperm injection (ICSI) has widened the range of male infertility treated by intra-couple Assisted Reproductive Techniques (ART) but raised the problem of an increased risk of transmitting an aneuploidy to the offspring
This study evaluates the reliability of the analytical method for detection of sperm aneuploidy in 100 samples by comparing the rates obtained after automatic reading with a METAFER Metasystems® device to manual reading
Summary
1% of the spermatozoa found in ejaculate of healthy men are aneuploid and this rate increases in the population of subfertile and infertile men. Fertilization with these aneuploid sperm can lead to impaired embryo development. Concerning chromosomal abnormalities origin, approximately 1% of the spermatozoa found in the ejaculates of healthy men are aneuploid [5]. This rate increases in the population of subfertile and infertile men. This increase has been described for all the chromosomes, but the most elevated rates are observed for chromosome X, Y, 21 and 22 [9,10]
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