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The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers.
Dang, Tongyuan; Xie, Pingyuan; Zhang, Zhiqi; Hu, Liang; Tang, Yi; Tan, Yueqiu; Luo, Keli; Gong, Fei; Lu, Guangxiu; Lin, Ge.
Afiliación
  • Dang T; Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.
  • Xie P; Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.
  • Zhang Z; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
  • Hu L; National Engineering and Research Center of Human Stem Cells, Changsha, China.
  • Tang Y; Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.
  • Tan Y; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
  • Luo K; National Engineering and Research Center of Human Stem Cells, Changsha, China.
  • Gong F; NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
  • Lu G; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.
  • Lin G; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
J Assist Reprod Genet ; 40(8): 1995-2002, 2023 Aug.
Article en En | MEDLINE | ID: mdl-37338749
PURPOSE: To analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome stability during meiosis and mitosis. METHODS: This retrospective study include 928 oocyte retrieval cycles from 763 couples with Robertsonian translocations undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) using next-generation sequencing (NGS) between December 2012 and June 2020.The segregation patterns of the trivalent of 3423 blastocysts were analyzed according to the carrier's sex and age. A total of 1492 couples who received preimplantation genetic testing for aneuploidy (PGT-A) were included as the control group and matched according to maternal age and testing time stage. RESULTS: A total of 1728 (50.5%) normal/balanced embryos were identified from 3423 embryos diagnosed. The rate of alternate segregation in male Robertsonian translocation carriers was significantly higher than that in female carriers (82.3% vs. 60.0%, P < 0.001). However, the segregation ratio exhibited no difference between young and older carriers. Further, increasing maternal age decreased the proportion of transferable embryo cycle in both female and male carriers. And the ratio of chromosome mosaic from the Robertsonian translocation carrier group was significantly higher than that in the PGT-A control group (1.2% vs. 0.5%, P < 0.01). CONCLUSIONS: The meiotic segregation modes were affected by the carrier sex and were independent of the carrier's age. Advanced maternal age decreased the probability of obtaining a normal/balanced embryo. In additional, the Robertsonian translocation chromosome could increase the possibility of chromosome mosaicism during mitosis in blastocysts.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Preimplantación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: J Assist Reprod Genet Asunto de la revista: GENETICA / MEDICINA REPRODUTIVA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Preimplantación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: J Assist Reprod Genet Asunto de la revista: GENETICA / MEDICINA REPRODUTIVA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos