Abstract
BACKGROUND: Chromosomal abnormalities and variations are significant contributors to reproductive challenges. This study aims to investigate the types and incidence of structural autosomal anomalies and autosomal variations in a large Vietnamese population undergoing infertility treatment. . MATERIAL AND METHODS: A retrospective analysis was conducted on 19,191 females and 18,584 males who needed assisted reproductive technology (ART) at the Military Institute of Clinical Embryology and Histology, and Andrology and Fertility Hospital of Hanoi from 2020 to 2023. Karyotyping was conducted using the G-band staining method, and the data were analyzed with STATA 16.0 software. RESULTS: Males have a higher overall occurrence of structural autosomal anomalies, with a total of 359 cases (1.932%) compared to 306 cases (1.594%) in females, particularly inversions and robertsonian translocations. Chromosome 9 inversions were equally observed in both genders, while robertsonian translocations and reciprocal translocations were more frequent in males (0.183% and 0.468%, respectively) than in females (0.146% and 0.406%, respectively). Deletions and duplications were more prevalent in males, occurring at rates of 0.215% and 0.016%, respectively, versus 0.036% and 0.021% in females. Total autosomal variants were 1478 (7.953%) in males and 1864 (9.7%) in females. Chromosome 9 exhibits the highest occurrence of the q+/qh+ variant, followed by the one of chromosome 1 and chromosome 16. Chromosomes 21 and 22 show notable numbers of ps+ and pstk+ variants. . CONCLUSION: Structural autosomal anomalies and autosomal variations are common in Vietnamese patients undergoing infertility, highlighting the necessity of genetic testing, particularly karyotyping, in the evaluation and management of infertility. .