Detection of chromosome aberrations in 17 054 individuals with fertility problems and their subsequent assisted reproductive technology treatments in Central China.

This study investigates the types and frequencies of chromosome aberrations and polymorphisms in infertile couples from central China and their impact on semen quality and assisted reproductive technology (ART) outcomes. Among 17,054 infertile patients, chromosome aberrations were found in 2.04% (2.49% in men, 1.57% in women), with autosomal translocations being the most common. Men with chromosome aberrations, including Robertsonian and reciprocal translocations and sex chromosome abnormalities such as Klinefelter syndrome, exhibited significantly impaired semen parameters and higher rates of infertility. ART treatment achieved a 36.00% success rate overall, but couples with reciprocal translocations had lower pregnancy rates and fewer euploid embryos compared to other aberrations. The findings support recommending constitutional chromosome analysis for men with severe oligospermia or azoospermia to guide treatment and highlight the variable reproductive prognosis depending on the type of chromosomal abnormality.