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Chapter 13 - Genomics for Embryo Selection

Published online by Cambridge University Press:  26 April 2023

Catherine Racowsky
Affiliation:
Hôpital Foch, France
Jacques Cohen
Affiliation:
IVF 2.0, New York
Nicholas Macklon
Affiliation:
London Women's Clinic
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Summary

During the last thirty years preimplantation genetic testing has found diverse clinical application, expanding beyond the relatively small population of patients at high-risk of inherited disease transmission for whom it was initially intended. While the use of PGT has been highly successful in helping couples carrying gene mutations to reduce the incidence of affected pregnancies, it is now more commonly used for assessing chromosomal status of embryos generated during the course of routine IVF treatment. Chromosome abnormalities are extremely common in human IVF embryos and, in theory, the identification and preferential transfer to the uterus of euploid embryos should improve IVF treatment outcomes. Today, it is estimated that more than a third of all IVF cycles carried out in the United States utilise this type of testing to assist the selection of embryos, dwarfing the utilisation of PGT for other purposes. Recent technical developments suggest that PGT will provide patients with increasingly valuable reproductive strategies, while its growing capabilities may also pose ethical questions.

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Publisher: Cambridge University Press
Print publication year: 2023

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References

Delhanty, JD, Harper, JC, Ao, A, Handyside, AH, Winston, RM. Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet. 1997;99:755–60.Google Scholar
Wells, D, Delhanty, JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod. 2000;6:1055–62.CrossRefGoogle ScholarPubMed
Munné, S, Lee, A, Rosenwaks, Z, Grifo, J, Cohen, J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8:2185–91.Google Scholar
Gutierrez-Mateo, C, Sánchez-García, JF, Fischer, J, Tormasi, S, Cohen, J, Munné, S, Wells, D. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril. 2009;5:1544–56.Google Scholar
Handyside, AH, Kontogianni, EH, Hardy, K, Winston, RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.CrossRefGoogle ScholarPubMed
Sermon, K, Lissens, W, Nagy, ZP, Van Steirteghem, A, Liebaers, I. Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Hum Reprod. 1995;10:2214–17.CrossRefGoogle ScholarPubMed
Findlay, I, Urquhart, A, Quirke, P, Sullivan, K, Rutherford, AJ, Lilford, RJ. Simultaneous DNA ‘fingerprinting’, diagnosis of sex and single-gene defect status from single cells. Hum Reprod. 1995;10:1005–13.Google ScholarPubMed
Piyamongkol, W, Harper, JC, Delhanty, JD, Wells, D. PGD protocols using multiplex fluorescent PCR. Reprod Biomed Online. 2001;2:212–14.CrossRefGoogle ScholarPubMed
Tracey, M. Short tandem repeat-based identification of individuals and parents. Croat Med J. 2001;42:233–8.Google ScholarPubMed
Natesan, SA, Bladon, AJ, Coskun, S, Qubbaj, W, Prates, R, Munné, S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16:838–45.CrossRefGoogle ScholarPubMed
Konstantinidis, M, Prates, R, Goodall, NN, Fischer, J, Tecson, V, Lemma, T, et al. Live births following karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online. 2015;3:394403.Google Scholar
Ben-Nagi, J, Wells, D, Doye, K, Loutradi, K, Exeter, H, Drew, E, et al. Karyomapping: a single centre’s experience from application of methodology to ongoing pregnancy and live-birth rates. Reprod Biomed Online. 2017;35:264–71.Google Scholar
Masset, H, Zamani Esteki, M, Dimitriadou, E, Dreesen, J, Debrock, S, Derhaag, J, et al. Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing. Hum Reprod. 2019;34:1608–19.Google Scholar
Munné, S, Sandalinas, M, Escudero, T, Fung, J, Gianaroli, L, Cohen, J. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril. 2000;73:1209–18.CrossRefGoogle ScholarPubMed
Fragouli, E, Alfarawati, S, Spath, K, Jaroudi, S, Sarasa, J, Enciso, M, Wells, D. The origin and impact of embryonic aneuploidy. Hum Genet. 2013;132:1001–13.Google Scholar
Alfarawati, S, Fragouli, E, Colls, P, Wells, D. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod. 2011;26:1560–74.Google Scholar
Wells, D, Kaur, K, Grifo, J, Glassner, M, Taylor, JC, Fragouli, E, Munné, S. Clinical utilization of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J Med Genet. 2014;51:553–62.Google Scholar
Fragouli, E, Alfarawati, S, Spath, K, Tarozzi, N, Borini, A, Wells, D. Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts. Hum Genet. 2017;136:805–19.CrossRefGoogle ScholarPubMed
Zimmerman, RS, Tao, X, Marin, D, Werner, MD, Hong, KH, Lonczak, A, et al. Preclinical validation of a targeted next generation sequencing-based comprehensive chromosome screening methodology in human blastocysts. Mol Hum Reprod. 2018;24:3745.CrossRefGoogle ScholarPubMed
Idowu, D, Merrion, K, Wemmer, N, Mash, JG, Pettersen, B, Kijacic, D, Lathi, RB. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril. 2015;103:1037–42.Google Scholar
Tobler, KJ, Brezina, PR, Benner, AT, Du, L, Xu, X, Kearns, WG. Two different microarray technologies for preimplantation genetic diagnosis and screening, due to reciprocal translocation imbalances, demonstrate equivalent euploidy and clinical pregnancy rates. J Assist Reprod Genet. 2014;31:843–50.Google Scholar
Mastenbroek, S, Twisk, M, Veen, F, van der Repping, S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update. 2011;17:454–66.Google Scholar
Wells, D, Delhanty, JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod. 2000;6:1055–62.Google Scholar
Scott, RT, Upham, KM, Forman, EJ, Zhao, T, Treff, NR. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100:624–30.CrossRefGoogle Scholar
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.Google Scholar
Dahdouh, EM, Balayla, J, García-Velasco, JA. Comprehensive chromosome screening improves embryo selection: a metaanalysis. Fertil Steril. 2015;104:1503–12.CrossRefGoogle ScholarPubMed
Munné, S, Kaplan, B, Frattarelli, J, Gysler, M, Child, T, Nakhuda, G, et al. Global multicenter randomized controlled trial comparing single embryo transfer with embryo selected by preimplantation genetic screening using next-generation sequencing versus morphologic assessment. Fert Steril. 2017;108:e19.CrossRefGoogle Scholar
Verpoest, W, Staessen, C, Bossuyt, PM, Goossens, V, Altarescu, G, Bonduelle, M, et al. Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial. Hum Reprod. 2018;33:1767–76.Google Scholar
Tiegs, AW, Tao, X, Zhan, Y, Whitehead, C, Kim, J, Hanson, B, et al. A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy assay and impact of biopsy. Fertil Steril. 2021;115:627–37.Google Scholar
Greco, E, Minasi, MG, Fiorentino, F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med. 2015;373:2089–90.Google Scholar
Fragouli, E, Alfarawati, S, Spath, K, Tarozzi, N, Borini, A, Wells, D. Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts. Hum Genet. 2017;136:805–19.Google Scholar
Munné, S, Blazek, J, Large, M, Martinez-Ortiz, PA, Nisson, H, Liu, E, 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;108:6271.CrossRefGoogle ScholarPubMed
Spinella, F, Fiorentino, F, Biricik, A, Bono, S, Ruberti, A, Cotroneo, E, et al. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril. 2018;109:7783.Google Scholar
Munné, S, Spinella, F, Grifo, J, Zhang, J, Beltran, MP, Fragouli, E, Fiorentino, F. Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing – further insights. Eur J Med Genet. 2019;21:103741.Google Scholar
Victor, AR, Griffin, DK, Brake, AJ, Tyndall, JC, Murphy, AE, Lepkowsky, LT, et al. Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst. Hum Rep. 2019;34:181–92.Google Scholar
Viotti, M, Victor, AR, Barnes, FL, Zouves, CG, Besser, AG, Grifo, JA, et al.. Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use. Fertil Steril. 2021;115:1212–24.Google Scholar
Capalbo, A, Poli, M, Rienzi, L, Girardi, L, Patassini, C, Fabiani, M, et al. Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. Am J Hum Genet. 2021;108:2238–47.Google Scholar
Leigh, D, Cram, DS, Rechitsky, L, Handyside, A, Wells, D, Munne, S, et al. PGDIS position statement on the transfer of mosaic embryos 2021. Reprod Biomed Online. 2022;S1472S6483.Google Scholar
Kim, J, Tao, X, Cheng, M, Steward, A, Guo, V, Zhan, Y, et al. The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy, Fertil Steril. 2022;117:315–23.Google Scholar
Verlinsky, Y, Rechitsky, S, Sharapova, T, Morris, R, Taranissi, M, Kuliev, A. Preimplantation HLA testing. JAMA. 2004;291:2079–85.Google Scholar
Treff, NR, Zimmerman, R, Bechor, E, Hsu, J, Rana, B, Jensen, J, et al. Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform. Eur J Med Genet. 2019;62:103647.Google Scholar
Leaver, M, Wells, D. Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics? Hum Reprod Update. 2020;26:1642.Google Scholar

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