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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 4/2017

01-04-2017 | Embryo Biology

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

Authors: Jin Huang, Liying Yan, Sijia Lu, Nan Zhao, Jie Qiao

Published in: Journal of Assisted Reproduction and Genetics | Issue 4/2017

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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.
Literature
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.CrossRefPubMed
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.CrossRefPubMedPubMedCentral
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRef
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.CrossRef
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMedPubMedCentral
15.
Wells D. Embryo aneuploidy and the role of morphological and genetic screening. Reprod Biomed Online. 2010;21:274–7.CrossRefPubMed
16.
Munné S, Weier HU, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod. 1994;51:373–9.CrossRefPubMed
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.CrossRefPubMed
18.
Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med. 2015;373:2089–90.CrossRefPubMed
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.
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMedPubMedCentral
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.CrossRefPubMed
26.
Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conception. Science. 1983;221:665–7.CrossRefPubMed
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.CrossRefPubMed
28.
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.CrossRefPubMedPubMedCentral
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.CrossRefPubMed
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.CrossRefPubMed
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.CrossRefPubMedPubMedCentral
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.CrossRefPubMedPubMedCentral
Metadata
Title
Re-analysis of aneuploidy blastocysts with an inner cell mass and different regional trophectoderm cells
Authors
Jin Huang
Liying Yan
Sijia Lu
Nan Zhao
Jie Qiao
Publication date
01-04-2017
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 4/2017
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-017-0875-9

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