Chromosomal aberrations of reproductive dysfunction: An in‐depth retrospective study of 1943 individuals with unexplained infertility

OBJECTIVE: Fertility refers to the ability to achieve a clinically successful pregnancy. Chromosomal aberrations constitute a fundamental etiological factor in reproductive dysfunction, with prevalence rates substantially elevated in infertile populations compared to general demographic baselines. This comprehensive retrospective investigation aimed to elucidate the cytogenetic signatures underlying infertility pathogenesis through systematic karyotypic analysis. METHODS: This retrospective study evaluated individuals referred to the Yazd Reproductive Sciences Institute between April 2016 and March 2025 for reproductive health concerns. Among 7768 individuals assessed during the study period, 1943 had infertility and underwent cytogenetic evaluation. Peripheral blood lymphocytes were analyzed using standardized Giemsa (GTG)-banding karyotyping at a resolution of 400-550 bands per haploid genome. Chromosomal abnormalities were classified according to the International System for Human Cytogenomic Nomenclature (ISCN) 2020 guidelines, encompassing structural variants, numerical abnormalities, complex karyotypic alterations, and polymorphic heteromorphisms. The demographic characteristics of the patients were systematically evaluated and analyzed in correlation with their chromosomal abnormalities. RESULTS: Among the 1943 individuals with infertility, chromosomal abnormalities were identified in 229 cases (12.0%), including numerical sex chromosome abnormalities (46.7%), chromosomal polymorphic variants (41.5%), structural abnormalities (9.2%), and complex karyotypes (2.6%). Males accounted for 83.8% of abnormal cases, with Klinefelter syndrome representing the most frequent abnormality. CONCLUSION: This study highlights that detecting chromosomal abnormalities in infertile couples is crucial for elucidating infertility etiology align with optimizing treatment and genetic counseling.