Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome. Issue 6 (June 2017)

• Record Type: Journal Article
• Authors: Haapaniemi Kouru, Katarina; Malmgren, Helena; White, Irene; Rodriguez Sanchez, Ana; Syk Lundberg, Elisabeth
• Is Part Of: Reproductive biomedicine online. Volume 34:Issue 6(2017)
• Page Start: 645
• Page End: 652
• Publication Date: 2017-06
• Subjects: Meiotic segregation -- Predicted outcome -- Preimplantation genetic diagnosis -- Reciprocal translocation -- Sperm FISH; Human reproductive technology -- Periodicals; Human embryo -- Periodicals; Reproduction -- Periodicals; 616.692
• DOI: 10.1016/j.rbmo.2017.02.013
• Languages: English
• ISSNs: 1472-6483

Abstract

Abstract: Translocation heterozygotes have an increased risk of producing gametes with unbalanced chromosome content. This often leads to reproductive problems such as infertility, repeated miscarriages or birth of an affected child. To increase the chances of having a healthy live-born child, translocation heterozygotes often opt for preimplantation genetic diagnosis (PGD). The aim of this study was to investigate whether there is a correlation between chromosome segregation in spermatozoa from translocation heterozygotes and the number of balanced embryos produced during PGD that may be used to predict the PGD outcome. Ten male reciprocal translocation heterozygotes that went through PGD at a Stockholm PGD centre were included. We analysed 1000 spermatozoa from each patient and between 3 and 29 embryos from the total of PGD cycles that the couples went through. Fluorescence in-situ hybridization (FISH) analysis of spermatozoa and embryos was performed with the same DNA probes. We found that the proportion of balanced spermatozoa was much higher than the proportion of balanced embryos during PGD. Our results indicate that a sperm FISH analysis prior to PGD is not a reliable predictor of the PGD outcome. PGD is a valuable reproductive alternative for translocation heterozygotes with reproductive problems and should be offered to these couples.