The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment

STUDY QUESTION: What are the prevalence, type, and stratified risks (reproductive failure subtype, sex, age, semen quality, and prior adverse pregnancy events) of chromosomal aberrations in couples seeking ART treatment in a large-scale cohort study? SUMMARY ANSWER: The prevalence of chromosomal aberrations in couples with reproductive failure was 3.42%, with a higher prevalence in younger individuals, men with poorer semen quality, and those experiencing multiple adverse pregnancy outcomes. WHAT IS KNOWN ALREADY: Reproductive failure is a global health issue, with chromosomal aberrations playing an important role. ART is widely used for the treatment of reproductive failure; however, large-scale, comprehensive studies characterizing the stratified risks of chromosomal aberrations in couples seeking ART remain scarce. STUDY DESIGN, SIZE, DURATION: This retrospective study analysed chromosomal data from 227 818 couples seeking ART at our hospital between January 1993 and March 2024. PARTICIPANTS/MATERIALS, SETTING, METHODS: This study included 227 818 couples with reproductive failure, including 130 213 couples with primary infertility, 58 161 with secondary infertility, and 39 444 with adverse pregnancy outcomes. All participants underwent routine cytogenetic analysis using GTG-banding prior to ART. Statistical analysis was performed using R software (v4.4.0), with significance set at P < 0.05. MAIN RESULTS AND THE ROLE OF CHANCE: Chromosomal aberrations were detected in 7785 couples (3.42%), with the highest prevalence in those with adverse pregnancy outcomes (4.83%), followed by those with primary infertility (3.54%) or secondary infertility (2.18%) (all P < 0.001). Significant sex differences were observed in infertile couples (men: 1.91% vs women: 1.52%) and couples with adverse pregnancy outcomes (men: 2.04% vs women: 2.81%), (P < 0.001). The prevalence of chromosomal aberrations was inversely correlated with age (2.36% in