The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers.

Alternate segregation Interchromosomal effect (ICE) PGT-SR Robertsonian translocation Segregation patterns of trivalent structure

Journal

Journal of assisted reproduction and genetics
ISSN: 1573-7330
Titre abrégé: J Assist Reprod Genet
Pays: Netherlands
ID NLM: 9206495

Informations de publication

Date de publication:
Aug 2023
Historique:
received: 12 01 2022
accepted: 31 05 2023
pmc-release: 01 08 2024
medline: 27 7 2023
pubmed: 20 6 2023
entrez: 20 6 2023
Statut: ppublish

Résumé

To analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome stability during meiosis and mitosis. 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. 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). 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.

Identifiants

pubmed: 37338749
doi: 10.1007/s10815-023-02853-5
pii: 10.1007/s10815-023-02853-5
pmc: PMC10371959
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1995-2002

Subventions

Organisme : National Natural Science Foundation of China
ID : grant 81873478
Organisme : Natural Science Foundation of Hunan Province
ID : Grant 2022JJ30414 and 2019JJ50397

Informations de copyright

© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

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Auteurs

Tongyuan Dang (T)

Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.

Pingyuan Xie (P)

Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.
Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.

Zhiqi Zhang (Z)

Hospital of Hunan Guangxiu, Hunan Normal University School of Medicine, Changsha, Hunan, China.

Liang Hu (L)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.

Yi Tang (Y)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.

Yueqiu Tan (Y)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.

Keli Luo (K)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.

Fei Gong (F)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.

Guangxiu Lu (G)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China.
National Engineering and Research Center of Human Stem Cells, Changsha, China.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.

Ge Lin (G)

Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, China. linggf@hotmail.com.
National Engineering and Research Center of Human Stem Cells, Changsha, China. linggf@hotmail.com.
NHC Key Laboratory of Human Stem and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China. linggf@hotmail.com.
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China. linggf@hotmail.com.

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