Skip to main content
SpringerLink
Log in

Blastocyst conversion rate and ploidy in patients with structural rearrangements

  • Assisted Reproduction Technologies
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Objective

The primary objective of this study was to test the hypotheses that compared to IVF cycles undergoing preimplantation genetic testing for aneuploidy (PGT-A) with or without testing for monogenic disorders (PGT-M), IVF cycles undergoing PGT for structural rearrangements (PGT-SR) will have (1) a poorer blastocyst conversion rate and (2) fewer usable blastocysts available for transfer. Secondarily, the study aimed to compare pregnancy outcomes among PGT groups.

Patients

Retrospective cohort study including cycles started from January 1, 2012, to March 30, 2020, with the intent of pursuing PGT-A, PGT-A with PGT-M, and PGT-SR, with trophectoderm biopsy on days 5 or 6.

Results

A total of 658 women underwent 902 cycles, including 607 PGT-A, 216 PGT-A&M, and 79 PGT-SR cycles. When compared with the blastocyst conversion rate for the PGT-A group (59.4%), and after adjustment for patient age, total number of mature oocytes, BMI, and ICSI, there were no significant differences for either the PGT-A&M (69.7%, aRR 1.03, 95% CI 0.96–1.10) or PGT-SR (63.2%, aRR1.04, 95% CI 0.96–1.13) groups. Compared to the PGT-A group, the proportion of usable blastocysts was statistically significantly lower in the PGT-SR group: 35.1% versus 24.4% (aRR 0.57, 95% CI 0.46–0.71) and the PGT-A&M group: 35.1% versus 31.5% (aRR 0.68, 95% CI 0.58–0.81). Implantation, pregnancy, and miscarriage rates were equivalent for all groups.

Conclusion

Patients with structural rearrangements have similar blastocyst development but significantly fewer usable blastocysts available for transfer compared to PGT-A testers. Nevertheless, with the transfer of a usable embryo, PGT-SR testers perform as well as those testing for PGT-A.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Blue NR, Page JM, Silver RM. Genetic abnormalities and pregnancy loss. Semin Perinatol. 2019;43(2):66–73. https://doi.org/10.1053/j.semperi.2018.12.002.

    Article  PubMed  Google Scholar 

  2. Kaser D. The status of genetic screening in recurrent pregnancy loss. Obstet Gynecol Clin N Am. 2018;45(1):143–54. https://doi.org/10.1016/j.ogc.2017.10.007.

    Article  Google Scholar 

  3. Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome rearrangements. Fertil Steril. 2017;107(1):19–26. https://doi.org/10.1016/j.fertnstert.2016.10.013.

    Article  CAS  PubMed  Google Scholar 

  4. Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants: I. Incidence of chromosome abnormalities. Clin Genet. 1975;8(4):223–43. https://doi.org/10.1111/j.1399-0004.1975.tb01498.x.

    Article  CAS  PubMed  Google Scholar 

  5. Vasilevska M, Ivanovska E, Sabit KK, Angelovska SE, Dimeska G. The incidence and type of chromosomal translocations from prenatal diagnosis of 3800 patients in the Republic of Macedonia. Balkan J Med Genet. 2013;16(2):23–8. https://doi.org/10.2478/bjmg-2013-0027.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Ogilvie CM, Braude P, Scriven PN. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil (Camb). 2001;4(3):168–71 http://www.ncbi.nlm.nih.gov/pubmed/11591275. Accessed July 13, 2018.

    Article  CAS  Google Scholar 

  7. Braekeleer MD, Dao T-N. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod. 1990;5(5):519–28. https://doi.org/10.1093/oxfordjournals.humrep.a137135.

    Article  PubMed  Google Scholar 

  8. Practice Committee of the American Society for Reproductive Medicine T. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. 2012. doi:10.1016/j.fertnstert.2012.06.048

  9. Iews M, Tan J, Taskin O, Alfaraj S, AbdelHafez FF, Abdellah AH, et al. Does preimplantation genetic diagnosis improve reproductive outcome in couples with recurrent pregnancy loss owing to structural chromosomal rearrangement? A systematic review. Reprod BioMed Online. 2018;36(6):677–85. https://doi.org/10.1016/j.rbmo.2018.03.005.

    Article  PubMed  Google Scholar 

  10. Ikuma S, Sato T, Sugiura-Ogasawara M, Nagayoshi M, Tanaka A, Takeda S. Preimplantation genetic diagnosis and natural conception: a comparison of live birth rates in patients with recurrent pregnancy loss associated with translocation. PLoS One. 2015;10(6). https://doi.org/10.1371/journal.pone.0129958.

  11. Koji S-O, Aoki AE, Tomoyuki Fujii AE, Tomio Fujita AE, Rie Kawaguchi AE, Tetsuo Maruyama AE, et al. Maruyama T, Ozawa N, et al. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement. J Hum Genet. 2008;53:622–8. https://doi.org/10.1007/s10038-008-0290-2.

    Article  Google Scholar 

  12. Chen C-K, Wu D, Yu H-T, et al. Preimplantation genetic diagnosis by fluorescence in situ hybridization of reciprocal and Robertsonian translocations. doi:https://doi.org/10.1016/j.tjog.2012.04.043, 2014

  13. Idowu D, Merrion K, Wemmer N, Mash JG, Pettersen B, Kijacic D, et al. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril. 2015;103(4):1037–42. https://doi.org/10.1016/J.FERTNSTERT.2014.12.118.

    Article  PubMed  Google Scholar 

  14. Munné S, Escudero T, Sandalinas M, Sable D, Cohen J. Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet. 2000;90(3-4):303–8. https://doi.org/10.1159/000056793.

    Article  PubMed  Google Scholar 

  15. 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. https://doi.org/10.1007/s10815-019-01593-9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Gardner DK, Schoolcraft WB. Jansen R MD. In vitro culture of human blastocysts, toward reproductive certainty: fertility and genetics beyond 1999. London: UK Parthenon Publishing; 1999.

    Google Scholar 

  17. Bakkensen JB, Brady P, Carusi D, Romanski P, Thomas AM, Racowsky C. Association between blastocyst morphology and pregnancy and perinatal outcomes following fresh and cryopreserved embryo transfer. J Assist Reprod Genet. 2019;36(11):2315–24. https://doi.org/10.1007/s10815-019-01580-0.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Gianaroli L, Magli MC, Ferraretti AP, et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Vol 17.; 2002. https://academic.oup.com/humrep/article-abstract/17/12/3201/569611. Accessed August 4, 2020.

  19. Violeta F, Alesja D, Baiba A, et al. The application of PGT-A for carriers of balanced structural chromosomal rearrangements. Gynecol Endocrinol. 2019;35(sup1):18–23. https://doi.org/10.1080/09513590.2019.1632091.

    Article  CAS  Google Scholar 

  20. Huang C, Jiang W, Zhu Y, Li H, Lu J, Yan J, et al. Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. J Assist Reprod Genet. 2019;36(11):2325–31. https://doi.org/10.1007/s10815-019-01585-9.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Roque M, Haahr T, Geber S, Esteves SC, Humaidan P. OUP accepted manuscript. Hum Reprod Update. 2018;25:2–14. https://doi.org/10.1093/humupd/dmy033.

    Article  Google Scholar 

  22. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73(6):1209–18. https://doi.org/10.1016/S0015-0282(00)00495-7.

    Article  PubMed  Google Scholar 

  23. Nynas J, Narang P, Kolikonda MK, Lippmann S. Depression and anxiety following early pregnancy loss. Prim Care Companion CNS Disord. 2015;17(1). https://doi.org/10.4088/pcc.14r01721.

  24. Kaneko M, Ohashi H, Takamura T, Kawame H. Psychosocial responses to being identified as a balanced chromosomal translocation carrier: a qualitative investigation of parents in Japan. J Genet Couns. 2015;24(6):922–30. https://doi.org/10.1007/s10897-015-9828-6.

    Article  PubMed  Google Scholar 

  25. Brier N. Understanding and managing the emotional reactions to a miscarriage. Obstet Gynecol. 1999;93(1):151–5. https://doi.org/10.1016/S0029-7844(98)00294-4.

    Article  CAS  PubMed  Google Scholar 

  26. Hirshfeld-Cytron J, Sugiura-Ogasawara M, Stephenson M. Management of recurrent pregnancy loss associated with a parental carrier of a reciprocal translocation: a systematic review. Semin Reprod Med. 2011;29(06):470–81. https://doi.org/10.1055/s-0031-1293201.

    Article  PubMed  Google Scholar 

  27. Franssen MTM, Musters AM, van der Veen F, Repping S, Leschot NJ, Bossuyt PMM, et al. Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review. Hum Reprod Update. 2011;17(4):467–75. https://doi.org/10.1093/humupd/dmr011.

    Article  CAS  PubMed  Google Scholar 

  28. Maithripala S, Durland U, Havelock J, Kashyap S, Hitkari J, Tan J, et al. Prevalence and treatment choices for couples with recurrent pregnancy loss due to structural chromosomal anomalies. J Obstet Gynaecol Can. 2018;40(6):655–62. https://doi.org/10.1016/j.jogc.2017.09.024.

    Article  PubMed  Google Scholar 

  29. Evsikov S, Cieslak J, Verlinsky Y. Effect of chromosomal translocations on the development of preimplantation human embryos in vitro. Fertil Steril. 2000;74(4):672–7. https://doi.org/10.1016/S0015-0282(00)01513-2.

    Article  CAS  PubMed  Google Scholar 

  30. De Krom G, Arens YHJM, Coonen E, et al. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod. 2015;30(2):484–9. https://doi.org/10.1093/humrep/deu314.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Brigham and Women’s Hospital, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Harvard Medical School, 3rd floor ASB, 75 Francis Street, Boston, MA, 02115, USA

    Iris G. Insogna, A. Lanes, L. Dobson, E. S. Ginsburg, C. Racowsky & E. Yanushpolsky

Authors
  1. Iris G. Insogna
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Lanes
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. L. Dobson
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E. S. Ginsburg
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. C. Racowsky
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. E. Yanushpolsky
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Iris G. Insogna.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Insogna, I.G., Lanes, A., Dobson, L. et al. Blastocyst conversion rate and ploidy in patients with structural rearrangements. J Assist Reprod Genet 38, 1143–1151 (2021). https://doi.org/10.1007/s10815-021-02131-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-021-02131-2

Keywords

Search

Navigation