Hostname: page-component-76fb5796d-5g6vh Total loading time: 0 Render date: 2024-04-29T15:52:02.775Z Has data issue: false hasContentIssue false
  • English
  • Français

Robust evidence reveals the reliable rate of normal/balanced embryos for identifying reciprocal translocation and Robertsonian translocation carriers

Published online by Cambridge University Press:  12 December 2023

Zhihua Tian Open the ORCID record for Zhihua Tian [Opens in a new window] ,
Wenchang Lian ,
Li Xu ,
Yanxi Long ,
Li Tang  and
Huawei Wang
Zhihua Tian
Affiliation:
Department of Reproduction and Genetics, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
Wenchang Lian
Affiliation:
Department of Medical Genetics, Yikon Genomics Company, Ltd, Jiangsu Suzhou 215021, China
Li Xu
Affiliation:
Department of Reproduction and Genetics, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
Yanxi Long
Affiliation:
Department of Reproduction and Genetics, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
Li Tang*
Affiliation:
Department of Reproduction and Genetics, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
Huawei Wang*
Affiliation:
Department of Reproduction and Genetics, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
*
Corresponding authors: Li Tang; Email: tanglikm@163.com and Huawei Wang; Email: wanghuawei99@163.com
Corresponding authors: Li Tang; Email: tanglikm@163.com and Huawei Wang; Email: wanghuawei99@163.com
Get access Rights & Permissions [Opens in a new window]

Summary

We aimed to evaluate the reliable rate of normal/balanced embryos for reciprocal translocation and Robertsonian translocation carriers and to provide convincing evidence for clinical staff to conduct genetic counselling regarding common structural rearrangements to alleviate patient anxiety. The characteristics of 39,459 embryos that were sourced from unpublished data and literature were analyzed. The samples consisted of 17,536 embryo karyotypes that were not published and 21,923 embryo karyotypes obtained from the literature. Using the PubMed, Cochrane Library, Web of Science, and Embase databases, specific keywords were used to screen the literature for reciprocal translocation and Robertsonian translocation. The ratio of normal/balanced embryos in the overall data was calculated and analyzed, and we grouped the results according to gender to confirm if there were gender differences. We also divided the data into the cleavage stage and blastocyst stage according to the biopsy period to verify if there was a difference in the ratio of normal/balanced embryos. By combining the unpublished data and data derived from the literature, the average rates of normal/balanced embryos for reciprocal translocation and Robertsonian translocation carriers were observed to be 26.96% (7953/29,495) and 41.59% (4144/9964), respectively. Reciprocal translocation and Robertson translocation exhibited higher rates in male carriers than they did in female carriers (49.60% vs. 37.44%; 29.84% vs. 27.67%). Additionally, the data for both translocations exhibited differences in the normal/balanced embryo ratios between the cleavage and blastocyst stages of carriers for both Robertsonian translocation and reciprocal translocation (36.07% vs 43.43%; 24.88% vs 27.67%). The differences between the two location types were statistically significant (P < 0.05). The normal/balanced ratio of embryos in carriers of reciprocal and RobT was higher than the theoretical ratio, and the values ranged from 26.96% to 41.59%. Moreover, the male carriers possessed a higher number of embryos that were normal or balanced. The ratio of normal/balanced embryos in the blastocyst stage was higher than that in the cleavage stage. The results of this study provide a reliable suggestion for future clinic genetic consulting regarding the rate of normal/balanced embryos of reciprocal translocation and Robertsonian translocation carriers.

Keywords

Balanced chromosome embryosGenetic consultingReciprocal translocationRobertsonian translocationUnbalanced chromosome embryos
Type
Research Article
Information
Zygote , Volume 32 , Issue 1 , February 2024 , pp. 58 - 65
Check for updates
Copyright
© The Author(s), 2023. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

*

Authors contributed equally.

References

Alfarawati, S., Fragouli, E., Colls, P. and Wells, D. (2012). Embryos of robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLOS Genetics, 8(10), e1003025. doi: 10.1371/journal.pgen.1003025 CrossRefGoogle ScholarPubMed
Alves, C., Sousa, M., Silva, J. and Barros, A. (2002). Preimplantation genetic diagnosis using FISH for carriers of robertsonian translocations: The Portuguese experience. Prenatal Diagnosis, 22(12), 1153–1162. doi: 10.1002/pd.503 CrossRefGoogle ScholarPubMed
Amir, H., Barbash-Hazan, S., Kalma, Y., Frumkin, T., Malcov, M., Samara, N., Hasson, J., Reches, A., Azem, F. and Ben-Yosef, D. (2019). Time-lapse imaging reveals delayed development of embryos carrying unbalanced chromosomal translocations. Journal of Assisted Reproduction and Genetics, 36(2), 315–324. doi: 10.1007/s10815-018-1361-8 CrossRefGoogle ScholarPubMed
Beyer, C. E. and Willats, E. (2017). Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or robertsonian translocations. Journal of Assisted Reproduction and Genetics, 34(11), 1483–1492. doi: 10.1007/s10815-017-1009-0 CrossRefGoogle ScholarPubMed
Bono, S., Biricik, A., Spizzichino, L., Nuccitelli, A., Minasi, M. G., Greco, E., Spinella, F. and Fiorentino, F. (2015). Validation of a semiconductor next-generation sequencing-based protocol for preimplantation genetic diagnosis of reciprocal translocations. Prenatal Diagnosis, 35(10), 938–944. doi: 10.1002/pd.4665 CrossRefGoogle ScholarPubMed
Boynukalin, F. K., Gultomruk, M., Turgut, N. E., Rubio, C., Rodrigo, L., Yarkiner, Z., Ecemis, S., Karlikaya, G., Findikli, N. and Bahceci, M. (2021). The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS). Journal of Assisted Reproduction and Genetics, 38(2), 387–396. doi: 10.1007/s10815-020-02054-4.CrossRefGoogle ScholarPubMed
Celestine, C. K., Werner, M. D., Franasiak, J. M., Juneau, C. R., Treff, N. R., Molinaro, T. and Scott, R. T. (2015). Does the parental origin of translocation impact rates of abnormal embryos? Fertility and Sterility, 104(3), e232. doi: 10.1016/j.fertnstert.2015.07.730 CrossRefGoogle Scholar
Findikli, N., Gultomruk, M., Boynukalin, F. K. & Ogur, C. (2019) Possible impact of interchromosomal effect at the blastocyst stage in cases undergoing PGT-A for translocations. Reproductive Biomedicine Online, 38(Suppl. 1), e56–e57. doi: 10.1016/j.rbmo.2019.03.090 CrossRefGoogle Scholar
Fiorentino, F., Kokkali, G., Biricik, A., Stavrou, D., Ismailoglu, B., De Palma, R., Arizzi, L., Harton, G., Sessa, M. and Pantos, K. (2010). Polymerase chain reaction-based detection of chromosomal imbalances on embryos: The evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertility and Sterility, 94(6). doi: 10.1016/j.fertnstert.2009.12.063.CrossRefGoogle ScholarPubMed
Gianaroli, L., Magli, M. C., Ferraretti, A. P., Munné, S., Balicchia, B., Escudero, T. and Crippa, A. (2002). Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Human Reproduction, 17(12), 3201–3207. doi: 10.1093/humrep/17.12.3201 CrossRefGoogle ScholarPubMed
Jin, H., Ping, L., Jie, Q., Ying, L. and Yongjian, C. (2010). Translocation chromosome karyotypes of the robertsonian translocation carriers’ embryos. Fertility and Sterility, 93(4), 1061–1065. doi: 10.1016/j.fertnstert.2008.11.020 CrossRefGoogle ScholarPubMed
Ko, D. S., Cho, J. W., Park, S. Y., Kim, J. Y., Koong, M. K., Song, I. O., Kang, I. S. and Lim, C. K. (2010). Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers. American Journal of Medical Genetics. Part A, 152A(6), 1428–1433. doi: 10.1002/ajmg.a.33368 CrossRefGoogle ScholarPubMed
Kuliev, A., Janzen, J. C., Zlatopolsky, Z., Kirillova, I., Ilkevitch, Y. and Verlinsky, Y. (2010). Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles. Reproductive Biomedicine Online, 21(1), 93–99. doi: 10.1016/j.rbmo.2010.04.003 CrossRefGoogle ScholarPubMed
Kushnick, T. (1992). Thompson & Thompson Genetics in Medicine. JAMA 267(15), 2115–2115.CrossRefGoogle Scholar
Kyu Lim, C., Hyun Jun, J., Mi Min, D., Lee, H. S., Young Kim, J., Koong, M. K. and Kang, I. S. (2004). Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and robertsonian translocations: The Korean experience. Prenatal Diagnosis, 24(7), 556–561. doi: 10.1002/pd.923 CrossRefGoogle ScholarPubMed
Lammers, J., Reignier, A., Splingart, C., Moradkhani, K., Barrière, P. and Fréour, T. (2019). Morphokinetic parameters in chromosomal translocation carriers undergoing preimplantation genetic testing. Reproductive Biomedicine Online, 38(2), 177–183. doi: 10.1016/j.rbmo.2018.11.006 CrossRefGoogle ScholarPubMed
Li, G., Sun, Y. P., Jin, H. X., Xin, Z. M. and Dai, S. J. (2009). Application of sperm fluorescence in situ hybridization in preimplantation genetic diagnosis. Zhonghua Fu Chan Ke Za Zhi, 44(6), 418–421.Google ScholarPubMed
Li, R., Wang, J., Gu, A., Xu, Y., Guo, J., Pan, J., Zeng, Y., Ma, Y., Zhou, C. and Xu, Y. (2021). Feasibility study of using unbalanced embryos as a reference to distinguish euploid carrier from noncarrier embryos by single nucleotide polymorphism array for reciprocal translocations. Prenatal Diagnosis, 41(6), 681–689. doi: 10.1002/pd.5897 CrossRefGoogle ScholarPubMed
Liu, H., Mao, B., Xu, X., Liu, L., Ma, X. and Zhang, X. (2020). The effectiveness of next-generation sequencing-based preimplantation genetic testing for balanced translocation couples. Cytogenetic and Genome Research, 160(11–12), 625–633. doi: 10.1159/000512847 CrossRefGoogle ScholarPubMed
Mardesić, T., Kosarová, M., Zudová, D., Jelínková, L., Sobotka, V. and Gregor, V. (2011). [Preimplantation genetic diagnosis (PGD) in carriers of chromosomal translocations: Possibilities and results]. Ceská Gynekologie, 76(2), 100–103.Google ScholarPubMed
Mateu-Brull, E., Rodrigo, L., Peinado, V., Mercader, A., Campos-Galindo, I., Bronet, F., García-Herrero, S., Florensa, M., Milán, M. and Rubio, C. (2019). Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR). Journal of Assisted Reproduction and Genetics, 36(12), 2547–2555. doi: 10.1007/s10815-019-01593-9 CrossRefGoogle ScholarPubMed
McKenzie, L. J., Cisneros, P. L., Torsky, S., Bacino, C. A., Buster, J. E., Carson, S. A., Simpson, J. L. and Bischoff, F. (2003). Preimplantation genetic diagnosis for a known cryptic translocation: Follow-up clinical report and implication of segregation products. American Journal of Medical Genetics. Part A, 121A(1), 56–59. doi: 10.1002/ajmg.a.20159 CrossRefGoogle ScholarPubMed
Munné, S., Sandalinas, M., Escudero, T., Fung, J., Gianaroli, L. and Cohen, J. (2000). Outcome of preimplantation genetic diagnosis of translocations. Fertility and Sterility, 73(6), 1209–1218. doi: 10.1016/s0015-0282(00)00495-7 CrossRefGoogle ScholarPubMed
Pei, Z., Deng, K., Lei, C., Du, D., Yu, G., Sun, X., Xu, C. and Zhang, S. (2021). Identifying balanced chromosomal translocations in human embryos by Oxford nanopore sequencing and breakpoints region analysis. Frontiers in Genetics, 12, 810900. doi: 10.3389/fgene.2021.810900 CrossRefGoogle ScholarPubMed
Sampson, J. E., Ouhibi, N., Lawce, H., Patton, P. E., Battaglia, D. E., Burry, K. A. and Olson, S. B. (2004). The role for preimplantation genetic diagnosis in balanced translocation carriers. American Journal of Obstetrics and Gynecology, 190(6), 1707–1711; discussion 1711–1703. doi: 10.1016/j.ajog.2004.02.063 CrossRefGoogle ScholarPubMed
Sarasa, J., Wheeler, K., Lansdowne, L., Raberi, A., Babariya, D. and Wells, D. (2015). Clinical experience using single nucleotide polymorphism (SNP) arrays for preimplantation genetic diagnosis (PGD) of chromosomal translocations. Human Reproduction, 30, 403–403.Google Scholar
Shi, W. H., Jiang, Z. R., Zhou, Z. Y., Ye, M. J., Qin, N. X., Huang, H. F., Chen, S. C. and Xu, C. M. (2021). Different strategies of preimplantation genetic testing for aneuploidies in women of advanced maternal age: A systematic review and meta-analysis. Journal of Clinical Medicine, 10(17), 3895. doi: 10.3390/jcm10173895 CrossRefGoogle ScholarPubMed
Tan, Y. Q., Tan, K., Zhang, S. P., Gong, F., Cheng, D. H., Xiong, B., Lu, C. F., Tang, X. C., Luo, K. L., Lin, G. and Lu, G. X. (2013). Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Human Reproduction, 28(9), 2581–2592. doi: 10.1093/humrep/det271 CrossRefGoogle ScholarPubMed
Tobler, K. J., Brezina, P. R., Benner, A. T., Du, L., Xu, X. and Kearns, W. G. (2014). Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates. Journal of Assisted Reproduction and Genetics, 31(7), 843–850. doi: 10.1007/s10815-014-0230-3 CrossRefGoogle ScholarPubMed
Tulay, P., Gultomruk, M., Findikli, N. and Bahceci, M. (2015). Poor embryo development and preimplantation genetic diagnosis outcomes of translocations involving chromosome 10: Do we blame genetics? Zygote, 23(5), 778–784. doi: 10.1017/S0967199414000422 CrossRefGoogle ScholarPubMed
Tulay, P., Gultomruk, M., Findikli, N. and Bahceci, M. (2016). Number of embryos biopsied as a predictive indicator for the outcome of preimplantation genetic diagnosis by fluorescence in situ hybridisation in translocation cases. Zygote, 24(1), 107–114. doi: 10.1017/S0967199414000793 CrossRefGoogle ScholarPubMed
Verlinsky, Y., Cieslak, J., Evsikov, S., Galat, V. and Kuliev, A. (2002). Nuclear transfer for full karyotyping and preimplantation diagnosis for translocations. Reproductive Biomedicine Online, 5(3), 300–305. doi: 10.1016/s1472-6483(10)61836-6 CrossRefGoogle ScholarPubMed
Wang, Y. Z., Ding, C. H., Wang, J., Zeng, Y. H., Zhou, W., Li, R., Zhou, C. Q., Deng, M. F. and Xu, Y. W. (2017). Number of blastocysts biopsied as a predictive indicator to obtain at least one normal/balanced embryo following preimplantation genetic diagnosis with single nucleotide polymorphism microarray in translocation cases. Journal of Assisted Reproduction and Genetics, 34(1), 51–59. doi: 10.1007/s10815-016-0831-0 CrossRefGoogle ScholarPubMed
Wang, J., Li, D., Xu, Z., Diao, Z., Zhou, J., Lin, F. and Zhang, N. (2019). Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations. Molecular Cytogenetics, 12, 11. doi: 10.1186/s13039-019-0423-7 CrossRefGoogle ScholarPubMed
Wiland, E., Hobel, C. J., Hill, D. and Kurpisz, M. (2008). Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: A case report. Prenatal Diagnosis, 28(1), 36–41. doi: 10.1002/pd.1899 CrossRefGoogle Scholar
Xie, Y., Xu, Y., Wang, J., Miao, B., Zeng, Y., Ding, C., Gao, J. and Zhou, C. (2018). Preliminary analysis of numerical chromosome abnormalities in reciprocal and robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray. Journal of Assisted Reproduction and Genetics, 35(1), 177–186. doi: 10.1007/s10815-017-1045-9 CrossRefGoogle ScholarPubMed
Xu, C. M., Jin, F., Qian, Y. L., Ye, Y. H., Zhu, Y. M. and Huang, H. F. (2004). Preimplantation genetic diagnosis of chromosome abnormality by fluorescence in-situ hybridization. Zhonghua Fu Chan Ke Za Zhi, 39(7), 453–456.Google ScholarPubMed
Xu, Y. W., Zhou, C. Q., Zeng, Y. H., Liu, Y., Gao, L. and Zhuang, G. L. (2011). Clinical analysis of 100 preimplantation genetic diagnosis cycles. Zhonghua Fu Chan Ke Za Zhi, 46(4), 255–259.Google ScholarPubMed
Xu, J., Zhang, Z., Niu, W., Yang, Q., Yao, G., Shi, S., Jin, H., Song, W., Chen, L., Zhang, X., Guo, Y., Su, Y., Hu, L., Zhai, J., Zhang, Y., Dong, F., Gao, Y., Li, W., Bo, S., et al. (2017). Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos. Proceedings of the National Academy of Sciences of the United States of America, 114(41), E8695–E8702. doi: 10.1073/pnas.1715053114 Google ScholarPubMed
Yu-li, Q., Chen-ming, X., Fan, J., Yi-Min, Z., Qiong, L. and He-feng, H. (2008); Preimplantation genetic diagnosis of translocation. Chinese Journal of Obstetrics and Gynecology, 43(8), 581–583.Google Scholar
Yuan, P., Zheng, L., Ou, S., Zhao, H., Li, R., Luo, H., Tan, X., Zhang, Q. and Wang, W. (2021). Evaluation of chromosomal abnormalities from preimplantation genetic testing to the reproductive outcomes: A comparison between three different structural rearrangements based on next-generation sequencing. Journal of Assisted Reproduction and Genetics, 38(3), 709–718. doi: 10.1007/s10815-020-02053-5 CrossRefGoogle Scholar
Zhai, F., Wang, Y., Li, H., Wang, Y., Zhu, X., Kuo, Y., Guan, S., Li, J., Song, S., He, Q., An, J., Zhi, X., Lian, Y., Huang, J., Li, R., Qiao, J., Yan, L. and Yan, Z. (2022). Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations. Reproductive Biomedicine Online, 45(3), 473–480. doi: 10.1016/j.rbmo.2022.05.012 CrossRefGoogle ScholarPubMed
Zhang, S., Lei, C., Wu, J., Sun, H., Zhou, J., Zhu, S., Wu, J., Fu, J., Sun, Y., Lu, D., Sun, X. and Zhang, Y. (2018). Analysis of segregation patterns of quadrivalent structures and the effect on genome stability during meiosis in reciprocal translocation carriers. Human Reproduction, 33(4), 757–767. doi: 10.1093/humrep/dey036 CrossRefGoogle ScholarPubMed
Zhang, S., Zhao, D., Zhang, J., Mao, Y., Kong, L., Zhang, Y., Liang, B., Sun, X. and Xu, C. (2019). BasePhasing: A highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers. BMC Medical Genomics, 12(1), 52. doi: 10.1186/s12920-019-0495-6 CrossRefGoogle ScholarPubMed
Zhou, Z., Ma, Y. L., Li, Q., Zhang, Y., Huang, Y. H., Tu, Z. H., Ma, N., Chen, X. Y. and Xu, W. (2017). Clinical application of oligo array-CGH for detecting balanced translocations in preimplantation genetic diagnosis. International Journal of Clinical and Experimental Pathology, 10(7), 7821–7835.Google ScholarPubMed