Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Aug;40(8):1995-2002.
doi: 10.1007/s10815-023-02853-5. Epub 2023 Jun 20.

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

Tongyuan Dang #  1 , Pingyuan Xie #  1   2   3 , Zhiqi Zhang  1 , Liang Hu  2   3   4   5 , Yi Tang  2   3   4   5 , Yueqiu Tan  2   3   4   5 , Keli Luo  2   3   4   5 , Fei Gong  2   3   4   5 , Guangxiu Lu  2   3   4   5 , Ge Lin  6   7   8   9
Affiliations

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

Tongyuan Dang et al. J Assist Reprod Genet. 2023 Aug.

Abstract

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.

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

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Meiotic segregation pattern in blastocysts according to the carrier’s sex and types of Robertsonian translocations. The detail data were shown in Supplementary table 1
Fig. 2
Fig. 2
The proportion of unbalanced translocation according to the carrier’s sex and types of Robertsonian translocations. The proportion were analyzed only when the number of unbalanced embryos were more than 10. The detail data were shown in Supplementary table 3
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Fryns JP, Van Buggenhout G. Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol. 1998;81:171–176. doi: 10.1016/S0301-2115(98)00185-7. - DOI - PubMed
    1. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. 4. Oxford; New York: Oxford University Press; 2012.
    1. Stern C, Pertile M, Norris H, Hale L, Baker HW. Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod. 1999;14:2097–2101. doi: 10.1093/humrep/14.8.2097. - DOI - PubMed
    1. Therman E, Susman B, Denniston C. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet. 1989;53:49–65. doi: 10.1111/j.1469-1809.1989.tb01121.x. - DOI - PubMed
    1. Yoshida A, Miura K, Shirai M. Cytogenetic survey of 1,007 infertile males. Urol Int. 1997;58:166–176. doi: 10.1159/000282975. - DOI - PubMed

LinkOut - more resources