Impact of Different Patterns of Sperm Chromosomal Abnormalities on the Chromosomal Constitution of Preimplantation Embryos

Objective: To evaluate the effect of sperm chromosome abnormalities--disomy for sex chromosomes and diploidy--in the chromosomal constitution of preimplantation embryos.

Design: Retrospective cohort study.

Setting: Infertility clinic.

Patient(s): Three groups: 46,XY infertile men with increased incidence of sex chromosome disomy in sperm; 46,XY infertile men with increased diploidy rates in sperm; 47,XYY infertile men with increased sex chromosome disomy and diploidy rates in sperm.

Intervention(s): Sperm collection for fluorescence in situ hybridization analysis. Embryo biopsy for preimplantation genetic screening.

Main Outcome Measure(s): Frequencies of numerical abnormalities in sperm for chromosomes 13, 18, 21, X, and Y, and in embryos for chromosomes 13, 16, 18, 21, 22, X, and Y.

Result(s): A significant increase of chromosomally abnormal and mosaic embryos was observed in the three study groups compared with controls. Those sperm samples with increased sex chromosome disomy rates produced significantly higher percentages of aneuploid embryos, with a threefold increase for sex chromosomes. Sperm samples with increased diploidy rates were mainly associated to the production of triploid embryos.

Conclusion(s): A strong correlation between sperm and embryo chromosomal constitution has been shown in infertile men with 46,XY and 47,XYY karyotypes.