Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks, RT carriers can benefit from prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD). Sperm fluorescence in situ hybridization (spermFISH) has been used for decades to investigate the sperm meiotic segregation of RT carriers, but a recent report indicates a very low correlation between spermFISH and PGD outcomes, raising the question of the usefulness of spermFISH for these patients. To address this point, we report here the meiotic segregation of 41 RT carriers, the largest cohort reported to date, and conduct a review of the literature to investigate global segregation rates and look for factors that may or may not influence them. We confirm that the involvement of acrocentric chromosomes in the translocation leads to more unbalanced gamete proportions, in contrast to sperm parameters or patient age. In view of the dispersion of balanced sperm rates, we conclude that routine implementation of spermFISH is not beneficial for RT carriers.

Automated summary

RT carriers face higher risks of infertility, miscarriage, and offspring with anomalies and developmental delay. Prenatal diagnosis or preimplantation genetic diagnosis can reduce these risks. However, a recent study questions the usefulness of spermFISH, a commonly used method, for investigating the meiotic segregation of RT carriers. A comprehensive analysis of 41 RT carriers confirms that acrocentric chromosomes lead to more unbalanced gametes, suggesting routine implementation of spermFISH is not beneficial for these patients.