Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-gvvz8 Total loading time: 0 Render date: 2024-12-27T04:48:33.370Z Has data issue: false hasContentIssue false

Chapter 13 - Preimplantation Genetic Testing

Published online by Cambridge University Press:  15 December 2022

By
Jan Traeger-Synodinos  and
Carmen Rubio
Edited by
Stéphane Viville  and
Karen D. Sermon
Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
Get access

Summary

Preimplantation genetic testing (PGT), until recently known as preimplantation genetic diagnosis (PGD), is an early form of prenatal testing for couples at high risk of transmitting a genetic condition to their offspring, either for monogenic disorders (PGT-M) or chromosomal structural rearrangements (PGT-SR). The goal is to test for the specific genetic status in cells biopsied from oocytes/zygotes or embryos obtained in vitro through assisted reproductive technology (ART) and, following analysis, to transfer to the uterus only those embryos identified as genetically suitable relative to the condition under consideration. The selective transfer of unaffected embryos to the uterus for implantation means that PGT minimizes the need to consider the termination of affected pregnancies. This advantage of PGT means that it has become a widely acceptable alternative to conventional prenatal diagnosis. Of course, PGT is not applied without some ethical concerns. In patients with high risk for transmitting specific genetic conditions to their offspring, including serious single gene disorders and chromosomal rearrangements, there is usually little ethical debate. However, the increased availability and emergence of new uses, such as PGT for autosomal dominant late-onset disorders, cancer predisposition syndromes, PGT for histocompatibility (HLA) typing, and mitochondrial DNA (mtDNA) mutations, are associated with greater ethical controversy and important ethical questions (see Chapter 15).

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 185 - 201
Publisher: Cambridge University Press
Print publication year: 2023

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Zegers-Hochschild, F, Adamson, GD, Dyer, S, et al. The International Glossary on Infertility and Fertility Care, 2017. Hum Reprod 2017;32(9):1786–801.Google Scholar
Handyside, AH, Kontogianni, EH, Hardy, K, Winston, RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 244: 768–70.Google Scholar
Griffin, DK, Wilton, LJ, Handyside, AH, et al. Dual fluorescent in situ hybridization for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei. Hum Genet 1992;89:18–22.Google Scholar
Xu, K, Montag, M. New perspectives on embryo biopsy: not how, but when and why? Semin Reprod Med 2012;30:259–66.Google Scholar
Coonen, E, van Montfoort, A , Carvalho, F, et al. ESHRE PGT Consortium data collection XVI–XVIII: cycles from 2013 to 2015. Hum Reprod Open 2020;2020(4):hoaa043.CrossRefGoogle ScholarPubMed
Rubio, C, Rienzi, L, Navarro-Sánchez, L, et al. Embryonic cell-free DNA versus trophectoderm biopsy for aneuploidy testing: concordance rate and clinical implications. Fertil Steril 2019;112(3):510–19.CrossRefGoogle ScholarPubMed
Kokkali, G, Vrettou, C, Traeger-Synodinos, J, et al. Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGT of beta-thalassaemia major. Hum Reprod 2005;20:1855–9.CrossRefGoogle Scholar
Craven, L, Tang, MX, Gorman, GS, De Sutter, P, Heindryckx, B. Novel reproductive technologies to prevent mitochondrial disease. Hum Reprod Update 2017;23(5):501–19.CrossRefGoogle ScholarPubMed
Carvalho, F, Moutou, C, Dimitriadou, E, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum Reprod Open 2020;2020(3):hoaa018. DOI 10.1093/hropen/hoaa018Google ScholarPubMed
Handyside, AH, Harton, GL, Mariani, B et al. Karyomapping: a universal method for genome-wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 2010; 47: 651–8.CrossRefGoogle ScholarPubMed
Masset, H, Zamani Esteki, M, Dimitriadou, E, et al. Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing. Hum Reprod 2019;34(8):1608–19.CrossRefGoogle ScholarPubMed
Hellebrekers, DM, Wolfe, R, Hendrickx, AT, et al. PGT and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update 2012;18:341–9.CrossRefGoogle Scholar
Kakourou, G, Kahraman, S, Ekmekci, GC, et al. The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study. Hum Reprod 2018;33(3):520–30.CrossRefGoogle ScholarPubMed
Scriven, PN, Handyside, AH, Ogilvie, CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 1998;18:1437–49.3.0.CO;2-P>CrossRefGoogle ScholarPubMed
Fiorentino, F, Kokkali, G, Biricik, A, et al. Polymerase chain reaction-based detection of chromosomal imbalances on embryos: evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril 2010;94:2001–11.Google Scholar
Wilton, L. Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization. Hum Reprod Update 2005;11: 33–41.Google Scholar
Fiorentino, F, Spizzichino, L, Bono, S, et al. PGT for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 2011;26:1925–35.CrossRefGoogle Scholar
Gianaroli, L, Magli, MC, Ferraretti, AP, et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002;17:3201–7.Google Scholar
Mateu-Brull, E, Rodrigo, L, Peinado, V, 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.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(8):103647.Google Scholar
Chow, JFC, Yeung, WSB, Lee, VCY, Lau, EYL, Ng, EHY. Evaluation of preimplantation genetic testing for chromosomal structural rearrangement by a commonly used next generation sequencing workflow. Eur J Obstet Gynecol Reprod Biol 2018;224:66–73.Google Scholar
Liebaers, I, Desmyttere, S, Verpoest, W, et al. Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis. Hum Reprod 2010;25:275–82.CrossRefGoogle ScholarPubMed
Heijligers, M, van Montfoort, A, Meijer-Hoogeveen, M, et al. Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014. J Assist Reprod Genet 2018;35(11):1995–2002.CrossRefGoogle ScholarPubMed
Heijligers, M, Peeters, A, van Montfoort, A, et al. Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis. Fertil Steril 2019;111(6):1151–8.CrossRefGoogle ScholarPubMed
Wilton, L, Thornhill, A, Traeger-Synodinos, J, Sermon, KD, Harper, JC. The causes of misdiagnosis and adverse outcomes in PGT. Hum Reprod 2009;24:1221–8.Google Scholar
Harper, JC, Sengupta, S, Vesela, K, et al. Accreditation of the PGT laboratory. Hum Reprod 2010;25:1051–65.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×