Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study

• Published in: BMC medical genomics 2023-11, Vol.16 (1), p.1-273, Article 273
• Main Authors: Wu, Shanshan, Zhang, Jianrui, Guan, Yichun, Ren, Bingnan, Zhang, Yuchao, Liu, Xinmi, Wang, Kexin, Zhang, Mingmei, Li, Zhen
• Format: Article
• Language: English
• Subjects: Blastocyst development; Blastocysts; Chromosome rearrangements; Chromosome translocations; Chromosomes; Couples; Embryos; Fertilization; Genetic testing; Karyotypes; Lymphocytes; Multivariate analysis; Ovaries; Ovulation; Peripheral blood; Preimplantation genetic testing for chromosomal structural rearrangements; Reciprocal translocation; Robertsonian translocation; Sex; Sperm; Statistical analysis; Ultrasonic imaging; Variables
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-023-01715-4

To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. This retrospective cohort study was conducted at the Third Affiliated Hospital of Zhengzhou University From January 2017 to December 2022.All couples were diagnosed as reciprocal translocation or Robertsonian translocation by karyotype of peripheral blood lymphocytes test. After adjusting for confounding factors, the effect of chromosomal rearrangement characteristics, such as carrier sex, translocation type, chromosome length and break sites, on fertilization rate and embryo development were analysed separately using multiple linear regression. In cases of Robertsonian translocation (RobT), the carrier sex plays an independent role in fertilization rate, and the male carriers was lower than that of female carriers (76.16% vs.86.26%, P = 0.009). In reciprocal translocation (RecT), the carrier sex, chromosome types and break sites had no influence on fertilization rate, blastocyst formation rate (P > 0.05). However, patients with human longer chromosomal (chromosomes 1-5) translocation have a lower available blastocyst formation rate (Group AB vs. Group CD: 41.49%vs.46.01%, P = 0.027). For male carriers, the translocation types was an independent factor affecting the fertilization rate, and the RobT was the negative one (B = - 0.075, P = 0 0.009). In female carriers, we did not observe this difference (P = 0.227). In patients with chromosomal translocation, the fertilization rate may be influenced by carrier sex and translocation type, chromosomes 1-5 translocation may adversely affect the formation of available blastocysts. Break sites have no role in fertilization and blastocyst development.