A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set.

OBJECTIVE: To determine the frequencies of disomy, nullisomy, total aneuploidy, and diploidy in the sperms of infertile men.

DESIGN: A controlled prospective study.

SETTING: Assisted reproductive technology (ART)/IVF Unit and Department of Medical Biology and Genetics, Meram Medical Faculty, Konya, Turkey.

PATIENT(S): Infertile men with oligoasthenoteratozoospermia (OAT) and normal fertile donors.

INTERVENTION(S): After slide preparation from semen samples, sperm nuclei were analyzed for chromosomes 13, 18, 21, X, and Y by five-color fluorescence in situ hybridization.

MAIN OUTCOME MEASURE(S): The sperm aneuploidy (disomy and nullisomy) and diploidy rates were determined according to the number of signals detected for each probe in infertile and fertile men.

RESULTS: Patients with OAT had a significantly higher incidence of disomy (except chromosome 18 and XX disomy), nullisomy (except chromosome 18), and diploidy than normal fertile controls. In addition to double disomy, double nullisomy and disomy+nullisomy were observed in patients with OAT, but none of these were seen in controls.

CONCLUSION(S): In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. This finding suggest that patients with OAT may be at an increased risk of producing aneuploid and triploid offsprings. For this reason, it may be very important to perform the sperm fluorescence in situ hybridization in patients with OAT. Thus, a more informative genetic counseling might be given to couples with male factor infertility who are at an increased risk of having aneuploid offsprings and triploid conceptions before intracytoplasmic sperm injection (ICSI).