Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome.
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.
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm SE 17176, Sweden; Fertility Centre Stockholm, Storangsvagen 10, Stockholm SE 11541, Sweden. Electronic address: katarinahkouru@gmail.com.
Katarina
K
Haapaniemi Kouru
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm SE 17176, Sweden.
Helena
H
Malmgren
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm SE 17176, Sweden.
Irene
I
White
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm SE 17176, Sweden.
Ana
A
Rodriguez Sanchez
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm SE 17176, Sweden.
Elisabeth
E
Syk Lundberg
D020090:Chromosome Segregation; D005260:Female; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis; D055101:Semen Analysis; D014178:Translocation, Genetic
Meiotic segregation; Predicted outcome; Preimplantation genetic diagnosis; Reciprocal translocation; Sperm FISH