Volume 26, Issue 3 (May 2024) 26, 302–307; 10.4103/aja202369
Exploring the impact of pericentric inversion of chromosome 9 on fertility in sperm donors
Qian Liu1, Wen-Jun Zhou1, Zeng-Hui Huang1,2, Xiu-Hai Huang2, Jian Wu2, Xi-Ren Ji2, Xue-Feng Luo1, Yu-Ling Tang1, Rui-Jun Wang1, Li-Qing Fan1,2, Chuan Huang2, Wen-Bing Zhu1,2
1Institute of Reproductive and Stem Cell Engineering, Basic Medicine College, Central South University, Changsha 410013, China; 2Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410005, China.
Correspondence: Chuan Huang or Wen-Bing Zhu
Received: 24 September 2023; Accepted: 03 November 2023; published online: 12 January 2024
Abstract |
Pericentric inversion of chromosome 9 (inv[9]) is a common chromosomal structural variant, but its impact on clinical outcomes remains debated. The screening criteria of sperm banks are rarely mentioned to individuals with inv(9). In this study, we evaluated the fertility of sperm donors with inv(9) who met eligibility criteria for sperm banks (inv[9]-eligible donors). From March 2004 to May 2022, chromosomal analysis of 16 124 sperm donors at CITIC-Xiangya Human Sperm Bank in Hunan Province (Changsha, China) found that 251 (1.6%) had chromosome variations, with inv(9) being the most prevalent at 1.1%. All 169 inv(9)-eligible donors were contacted to collect fertility outcome data, along with 206 eligible donors without inv(9) as controls. In addition, semen samples from inv(9)-eligible donors and eligible donors underwent assessments of sperm fluorescence in situ hybridization (FISH), mitochondrial membrane potential, DNA fragmentation index, acrosome integrity, reactive oxygen species (ROS), and sperm morphology. Results showed that inv(9) did not significantly increase reproductive risks overall. Despite detecting ROS level differences, the clinical impact may be insignificant. This study provides new data on the inv(9) population that can serve as a valuable reference for decision-making by sperm banks as well as for genetic counseling and clinical guidance for individuals carrying inv(9) variant.
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