Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization- intracytoplasmic sperm injection program

Objective: To evaluate the frequency of disomy (for chromosomes X, Y, and 18) and of diploidy in the spermatozoa of infertile men undergoing intracytoplasmic sperm injection (ICSI). Design: Prospective analysis of sperm nuclei by fluorescence in situ hybridization (FISH). Setting: University-affiliated IVF-ICSI program. Patient(s): Semen samples from 19 patients participating in an IVF-ICSI program. Intervention(s): Semen samples were analyzed and prepared for FISH. Main Outcome Measure(s): Semen parameters were evaluated. The frequency of disomy for chromosomes X, Y, and 18 and the frequency of diploidy were analyzed by FISH. Result(s): A total of 9,373 spermatozoa from 19 infertile patients were analyzed and compared with spermatozoa from a control group of 5 healthy men. No differences in the frequency of disomy 18 were found, but statistically significant differences in the incidence of sex chromosome disomy and of diploidy were observed. Conclusion(s): The study of sperm nuclei by FISH is useful to improve genetic counseling in infertile patients selected for ICSI.