Abstract
Purpose
This study aimed to evaluate the rates of euploidy, aneuploidy, and mosaicism in preimplantation genetic testing for structural rearrangements (PGT-SR) cycles from chromosomal inversion carriers. In addition, this work also focused on assessing the impact of some contributors on the incidence of parental originating aneuploidy and mosaicism.
Methods
This retrospective review enrolled chromosomal inversion carrier couples of whom the females were under 38 years old undergoing PGT-SR at a single academic reproductive center. Subgroups were divided according to the gender of carriers, the inversion type, and the semen parameters of male carriers (male factor infertility (MF) or non-MF). Patient demographics, cycle characteristics, and PGT-SR outcomes were compared among subgroups.
Results
A total of 71 PGT-SR cycles from 57 inversion carrier couples were included for analysis. Among the 283 blastocysts, 48.4% were identified as euploidy, 27.9% as aneuploidy, and the remaining 23.7% as mosaicism. Only 32.9% of aneuploid embryos and 1.5% of mosaic embryos involved the parental inversion chromosomes. Notably, the female inversion carriers seemed to produce more parental originating aneuploid embryos than male inversion carriers (45.5% vs 23.9%, p = 0.044).
Conclusions
The type of inversion and sperm parameters of male chromosomal inversion carriers did not affect the ploidy status of embryos. The incidence of parental originating aneuploidy in inversion carrier couples is lower than expected. For male chromosomal inversion carriers with normal sperm condition whose female partners are under 38 years old, natural conception combined with prenatal diagnosis could be provided as an option during fertility counseling.
Similar content being viewed by others
References
Anton E, Vidal F, Egozcue J, Blanco J. Genetic reproductive risk in inversion carriers. Fertil Steril. 2006;85(3):661–6.
Anton E, Blanco J, Egozcue J, Vidal F. Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res. 2005;111(3–4):297–304.
Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod. 2007;22(1):136–41.
Nussbaum R, McInnes R, Willard H. Thompson & Thompson genetics in medicine. 8th ed. Philadelphia: Saunders/Elsevier; 2015.
Madan K. Paracentric inversions: a review. Hum Genet. 1995;96(5):503–15.
Shao Y, Li J, Lu J, Li H, Zhu Y, Jiang W, et al. Clinical outcomes of Preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population. Reprod Biol Endocrinol. 2020;18(1):79.
Gardner DK, Lane M, Stevens J, Schlenker T, Schoolcraft WB. Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer. Fertil Steril. 2000;73(6):1155–8.
Lejeune J. AUSTOSOMAL DISORDERS. Pediatrics. 1963;32:326–37.
Kirkpatrik M. How and why chromosome inversions evolve. PLoS Biol. 2010;8(9):e1000501.
Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics. 2015;14(5):369–79.
Hou W, Xu Y, Li R, Song J, Wang J, Zeng Y, et al. Role of aneuploidy screening in preimplantation genetic testing for monogenic diseases in young women. Fertil Steril. 2019;111(5):928–35.
Young D, Klepcka D, McGarvey M, Schoolcraft WB, Katz-Jaffe MG. Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect. J Assist Reprod Genet. 2019;36(3):509–16.
Xie P, Hu L, Tan Y, Gong F, Zhang S, Xiong B, et al. Retrospective analysis of meiotic segregation pattern and interchromosomal effects in blastocysts from inversion preimplantation genetic testing cycles. Fertil Steril. 2019;112(2):336-42 e3.
Mateu-Brull E, Rodrigo L, Peinado V, Mercader A, Campos-Galindo I, Bronet F, et al. Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR). J Assist Reprod Genet. 2019;36(12):2547–55.
Zhang S, Lei C, Wu J, Sun H, Zhou J, Zhu S, et al. Analysis of segregation patterns of quadrivalent structures and the effect on genome stability during meiosis in reciprocal translocation carriers. Hum Reprod. 2018;33(4):757–67.
JD K, RC M, Z D, RB L (2018) Are blastocyst aneuploidy rates different between fertile and infertile populations? J Assist Reprod Genet. 35(3):403–8.
Li X, Hao Y, Elshewy N, Zhu X, Zhang Z, Zhou P. The mechanisms and clinical application of mosaicism in preimplantation embryos. J Assist Reprod Genet. 2020;37(3):497–508.
Leigh D, Cram DS, Rechitsky S, Handyside A, Wells D, Munne S, et al. PGDIS position statement on the transfer of mosaic embryos 2021. Reprod Biomed Online. 2022.
Tong J, Niu Y, Wan A, Zhang T. Effect of parental origin and predictors for obtaining a euploid embryo in balanced translocation carriers. Reprod Biomed Online. 2022;44(1):72–9.
Tong J, Niu Y, Wan A, Zhang T. Comparison of day 5 blastocyst with day 6 blastocyst: Evidence from NGS-based PGT-A results. J Assist Reprod Genet. 2022;39(2):369–77.
S M, J B, M L, PA M-O, H N, E L, et al. Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril. 2017;108(1):62–71.e8.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Ethical approval and consent to participate
The present study was consistent with the Declaration of Helsinki and received approval from the Ethics Committee of Hospital. All patients provided written informed consent.
Conflict of interest
The authors declare no competing interests.
Additional information
Publisher's note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Tong, J., Jiang, J., Niu, Y. et al. Do chromosomal inversion carriers really need preimplantation genetic testing?. J Assist Reprod Genet 39, 2573–2579 (2022). https://doi.org/10.1007/s10815-022-02654-2
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10815-022-02654-2