Sperm and Blastomere Aneuploidy Detection in Reproductive Genetics and Medicine

Abstract

The use of multiple probes in fluorescence in situ hybridization (FISH) permits the simultaneous analysis of several chromosomes in both blastomeres and spermatozoa. Preimplantation genetic diagnosis (PGD) for aneuploidy provides information on embryonic chromosomal status, enabling the selection of embryos carrying aneuploid condition. This strategy directly affects implantation, as documented for patients with a poor prognosis for pregnancy, who have the tendency to generate high proportions of chromosomally abnormal embryos. PGD for aneuploidy also has contributed information on early phases in human embryology by clarifying the molecular basis in some cases of irregular development. Multicolor FISH has also been used to study chromosomes on spermatozoa. Experimental strategies and modifications enabled the analysis of samples with a very low number of sperm cells, including samples retrieved from the genital tract or directly from the testicular tissue. The results confirmed that the incidence of aneuploidy increases proportionally with the severity of the male-factor condition. This observation suggests that, in selected cases, the paternal contribution to aneuploidy in the developing conceptus could be more relevant than expected from general data from aborted fetuses and live births.