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Chapter 7 - Individualized Genetic Testing

Who Benefits?

Published online by Cambridge University Press:  12 February 2021

By
Elpida Fragouli ,
Samer Alfarawati  and
Anna Mantzouratou
Edited by
Human M. Fatemi  and
Barbara Lawrenz
Human M. Fatemi
Affiliation:
IVI Middle East Fertility Clinic, Abu Dhabi, UAE
Barbara Lawrenz
Affiliation:
IVI Middle East Fertility Clinic, Abu Dhabi, UAE
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Summary

The main aim of preimplantation genetic testing (PGT), which up until recently was known as preimplantation genetic diagnosis (PGD), is the identification of embryos that are free of inherited genetic conditions. PGT can therefore be considered as a treatment option for couples where one or both partners are at risk of transmitting such a condition to their offspring. Inherited genetic conditions can affect gene function or chromosome structure, and could either be present in families or arise de novo. PGT for inherited mutations affecting gene function is defined as PGT for monogenic disorders or PGT-M, whereas PGT for inherited chromosome rearrangements is termed as PGT for structural rearrangements or PGT-SR (). The selection and preferential transfer of healthy embryos could lead to the birth of babies who are free of the genetic disorder for which PGT was carried out, as well as potentially eradicate it from the family. Hence, PGT can be considered as an alternative form of prenatal diagnosis, with the added advantage that it avoids the termination of affected pregnancies.

Type
Chapter
Information
Individualized In-Vitro Fertilization
Delivering Precision Fertility Treatment
 , pp. 79 - 95
Publisher: Cambridge University Press
Print publication year: 2021

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References

Harper, JC, Aittomäki, K, Borry, P, et al.Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur J Hum Genet 2018;26:12–33.CrossRefGoogle ScholarPubMed
Handyside, AH, Kontogianni, EH, Hardy, K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990;344:768–770.Google Scholar
Delhanty, JD, Harper, JC, Ao, A, et al. Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 1997;99:755–760.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;6:1055–1062.Google Scholar
Geraedts, J, Sermon, K. Preimplantation genetic screening 2.0: the theory. Mol Hum Reprod 2016;22:839–844.Google Scholar
Munné, S, Lee, A, Rosenwaks, Z, et al. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993;8:2185–2191.Google Scholar
Cimadomo, D, Capalbo, A, Ubaldi, FM, et al. The impact of biopsy on human embryo developmental potential during preimplantation genetic diagnosis. Biomed Res Int 2016;2016:7193075.CrossRefGoogle ScholarPubMed
Thornhill, AR, Snow, K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn 2002;4:11–29.CrossRefGoogle ScholarPubMed
Konstantinidis, M, Prates, R, Goodall, NN, et al. Live births following Karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online 2015;3:394–403.Google Scholar
Natesan, SA, Bladon, AJ, Coskun, S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med 2014;16:838–845.Google Scholar
Treff, NR, Forman, EJ, Scott, RT Jr. Next-generation sequencing for preimplantation genetic diagnosis. Fertil Steril 2013;99:e17–e18.Google Scholar
Fragouli, E, Alfarawati, S, Spath, K, et al. The origin and impact of embryonic aneuploidy. Hum Genet 2013;132:1001–1013.CrossRefGoogle ScholarPubMed
Northrop, LE, Treff, NR, Levy, B, et al. SNP microarray based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod 2010;16:590–600.Google Scholar
Wells, D, Kaur, K, Grifo, J, et al. 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;51:553–562.CrossRefGoogle ScholarPubMed
Sermon, K, Van Steirteghem, A, Liebaers, I. Preimplantation genetic diagnosis. Lancet 2004;363:1633–1641.Google Scholar
Treff, NR, Zimmerman, R, Bechor, E, 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.CrossRefGoogle ScholarPubMed
Alfarawati, S, Fragouli, E, Colls, P, et al. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod 2011;26:1560–1574.Google Scholar
Tobler, KJ, Brezina, PR, Benner, AT, et al. 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;31:843–850.Google Scholar
Idowu, D, Merrion, K, Wemmer, N, et al. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations. Fertil Steril 2015;103:1037–1042.Google Scholar
Mastenbroek, S, Twisk, M, Veen, F, et al. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011;17:454–466.CrossRefGoogle ScholarPubMed
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;6:1055–1062.Google Scholar
Scott, RT, Upham, KM, Forman, EJ, et al. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril 2013;100:624–630.CrossRefGoogle Scholar
Fragouli, E, Lenzi, M, Ross, R, et al. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod 2008;23:2596–2608.CrossRefGoogle ScholarPubMed
Dahdouh, EM, Balayla, J, García Velasco, JA. Comprehensive chromosome screening improves embryo selection: a metaanalysis. Fertil Steril 2015;104:1503–1512.CrossRefGoogle ScholarPubMed
Munné, S, Kaplan, B, Frattarelli, J, 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.Google Scholar
Verpoest, W, Staessen, C, Bossuyt, PM, et al. Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial. Hum Reprod 2018;33:1767–1776.Google Scholar
Greco, E, Minasi, MG, Fiorentino, F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med 2015;373:2089–2090.Google Scholar
Fragouli, E, Alfarawati, S, Spath, K, et al. Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts. Hum Genet 2017;136:805–819.Google Scholar
Munné, S, Blazek, J, Large, M, 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;108:62–71.Google Scholar
Spinella, F, Fiorentino, F, Biricik, A, et al. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril 2018;109:77–83.Google Scholar
Cram, DS, Leigh, D, Handyside, A, et al. PGDIS position statement on the transfer of mosaic embryos. RBM Online 2019;39 e1–e4.Google Scholar

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