Skip to main content
SpringerLink
Log in

Re-analysis of aneuploidy blastocysts with an inner cell mass and different regional trophectoderm cells

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

Abstract

Purpose

The purpose of this study is to explore which part of the trophectoderm best represents the inner cell mass after aCGH analysis.

Methods

Fifty-one preimplantation genetic diagnosis/preimplantation genetic screening of abnormal blastocysts diagnosed by array comparative genomic hybridization were included in this study. Blastocysts were thawed, incubated for 3 to 4 h, and then biopsied. Four regions were biopsied per blastocyst, including the inner cell mass (ICM), trophectoderm (TE) cells opposite the ICM, TE cells at the upper right of the ICM, and TE cells at the lower right of the ICM. The biopsied pieces were processed through multiple annealing and looping-based amplification cycle sequenced for 24-chromosome aneuploidy screening. The aneuploidy results were compared among the ICM and the different regional trophectoderm cells from the same blastocyst.

Results

Fifty of 51 (98.04%) ICM samples were concordant with at least one of the TE biopsies derived from the same embryos. There were 43 blastocysts in which ICM and the other three TE pieces were consistent. Discordance among the four pieces occurred in eight blastocysts. Only one blastocyst was discordant between the ICM and the other three TE pieces, while seven blastocysts were discordant between one of TE and the other three biopsied pieces. There was no special region that the mosaic TE was located.

Conclusions

Our findings indicate that TE aneuploidy is an excellent predictor of ICM aneuploidy. The blastocyst mosaic cells are inclined to be located in TE. Moreover, the mosaic TE was not limited to the special region.

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.

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Forman EJ, Hong KH, Ferry KM, Tao X, Taylor D, Levy B, et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril. 2013;100:100–7. e1.

    Article  PubMed  Google Scholar 

  2. Yang Z, Liu J, Collins GS, Salem SA, Liu X, Lyle SS, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet. 2012;5:24.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott Jr RT. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013;99:1377–84.

    Article  CAS  PubMed  Google Scholar 

  4. Munné S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online. 2003;7:91–7.

    Article  PubMed  Google Scholar 

  5. Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz B, Korevaar JC, Verhoeve HR, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357:9–17.

    Article  CAS  PubMed  Google Scholar 

  6. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. New Engl J Med. 2001;345:1537–41.

    Article  CAS  PubMed  Google Scholar 

  7. Gutiérrez-Mateo C, Colls P, Sánchez-García J, Escudero T, Prates R, Ketterson K, et al. Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril. 2011;95:953–8.

    Article  PubMed  Google Scholar 

  8. Scriven PN, Ogilvie CM, Khalaf Y. Embryo selection in IVF: is polar body array comparative genomic hybridization accurate enough? Hum Reprod. 2012;4:951–3.

    Article  Google Scholar 

  9. Scott Jr RT, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;9:870–5.

    Article  Google Scholar 

  10. Schoolcraft WB, Treff NR, Stevens JM, Ferry K, Katz-Jaffe M, Scott Jr RT. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray–based comprehensive chromosome screening in infertile patients. Fertil Steril. 2011;96:638–40.

    Article  PubMed  Google Scholar 

  11. Huang J, Yan L, Fan W, Zhao N, Zhang Y, Tang F, et al. Validation of multiple annealing and looping-based amplification cycle sequencing for 24-chromosome aneuploidy screening of cleavage-stage embryos. Fertil Steril. 2014;102:1685–91.

    Article  CAS  PubMed  Google Scholar 

  12. Huang J, Yan L, Lu S, Zhao N, Xie XS, Qiao J. Validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of blastocysts. Fertil Steril. 2016;105:1532–6.

    Article  CAS  PubMed  Google Scholar 

  13. Fragouli E, Wells D, Thornhill A, Serhal P, Faed MJ, Harper JC, et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum Reprod. 2006;21:2319–28.

    Article  CAS  PubMed  Google Scholar 

  14. Chow JF, Yeung WS, Lau EY. Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage. Reprod Biol Endocrinol. 2014;12:105.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Wells D. Embryo aneuploidy and the role of morphological and genetic screening. Reprod Biomed Online. 2010;21:274–7.

    Article  PubMed  Google Scholar 

  16. Munné S, Weier HU, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod. 1994;51:373–9.

    Article  PubMed  Google Scholar 

  17. Scott KL, Hong KH, Scott Jr RT. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril. 2013;100:608–14.

    Article  PubMed  Google Scholar 

  18. Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med. 2015;373:2089–90.

    Article  PubMed  Google Scholar 

  19. Gardner DK, Schoolcraft WB. In vitro culture of human blastocysts. In: Jansen R, Mortimer D, editors. Towards reproductive certainty: infertility and genetics beyond. Carnforth, UK: Parthenon Press; 1999. p. 377–88.

    Google Scholar 

  20. Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ, Fauser BC, et al. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod. 2006;21:223–33.

    Article  CAS  PubMed  Google Scholar 

  21. Rius M, Daina G, Obradors A, Ramos L, Velilla E, Fernandez S, et al. Comprehensive embryo analysis of advanced maternal age-related aneuploidies and mosaicism by short comparative genomic hybridization. Fertil Steril. 2011;95:413–6.

    Article  PubMed  Google Scholar 

  22. Bradley CK, Peura T, Dumevska B, Jovasevic A, Chami O, Schmidt U, et al. Cell lines from morphologically abnormal discarded IVF embryos are typically euploid and unaccompanied by intrachromosomal aberrations. Reprod Biomed Online. 2014;28:780–8.

    Article  CAS  PubMed  Google Scholar 

  23. Liu J, Wang W, Sun X, Liu L, Jin H, Li M, et al. DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol Reprod. 2012;87:148.

    Article  PubMed  Google Scholar 

  24. Johnson DS, Cinnioglu C, Ross R, Filby A, Gemelos G, Hill M, et al. Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass. Mol Hum Reprod. 2010;16:944–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Fragouli E, Lenzi M, Ross R, Katz-Jaffe M, Schoolcraft WB, Wells D. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod. 2008;23:2596–608.

    Article  CAS  PubMed  Google Scholar 

  26. Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conception. Science. 1983;221:665–7.

    Article  CAS  PubMed  Google Scholar 

  27. Goldberg JD, Wohlferd MM. Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling. Am J Obstet Gynecol. 1997;176:1349–53.

    Article  CAS  PubMed  Google Scholar 

  28. Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet. 1996;33:529–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Huang J, Zhao N, Wang X, Qiao J, Liu P. Chromosomal characteristics at cleavage and blastocyst stages from the same embryos. J Assist Reprod Genet. 2015;32:781–7.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, et al. Cytogenetic results from the US collaborative study on CVS. Prenat Diagn. 1992;12:317–45.

    Article  CAS  PubMed  Google Scholar 

  31. Hou Y, Fan W, Yan L, Li R, Lian Y, Huang J, et al. Genome analyses of single human oocytes. Cell. 2013;155:1492–506.

    Article  CAS  PubMed  Google Scholar 

  32. Lu S, Zong C, Fan W, Yang M, Li J, Chapman AR, et al. Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science. 2012;338:1627–30.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Zong C, Lu S, Chapman AR, Xie XS. Genome-wide detection of single nucleotide and copy-number variations of a single human cell. Science. 2012;338:1622–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Reproductive Medical Centre, Department of Obstetrics and Gynecology, Peking University Third Hospital, 49 Huayuan North Rd, Haidian, Beijing, China

    Jin Huang, Liying Yan, Nan Zhao & Jie Qiao

  2. Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, 100191, China

    Jin Huang, Liying Yan & Jie Qiao

  3. Yikon Genomics, Beijing, China

    Sijia Lu

Authors
  1. Jin Huang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Liying Yan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sijia Lu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Nan Zhao
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jie Qiao
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jie Qiao.

Ethics declarations

This study was approved by the Institutional Review Board of Peking University Third Hospital, China. Written informed consent was obtained from each couple.

Funding

This study was supported by the grants from National High Technology Research and Development Program (2015AA020407), Beijing Municipal Science and Technology Commission (Z131100005213006, CBXM2015-036), the National Natural Science of China (31522034), research fund of National Health and Family Planning Commission of China (201402004) and special funds of Guangxi-distinguished experts, China.

Additional information

Capsule Re-analysis of the aneuploidy blastocysts reveals that TE is an excellent predictor of ICM. And the mosaic TE was not limited to the special region.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Huang, J., Yan, L., Lu, S. et al. Re-analysis of aneuploidy blastocysts with an inner cell mass and different regional trophectoderm cells. J Assist Reprod Genet 34, 487–493 (2017). https://doi.org/10.1007/s10815-017-0875-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-017-0875-9

Keywords

Search

Navigation