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Chapter 11 - Genetic Counseling in Assisted Reproductive Treatment

Published online by Cambridge University Press:  15 December 2022

By
Christine de Die-Smulders  and
Ron van Golde
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
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Summary

In the past decade the development of new technologies and innovations have revolutionized genetic testing. The ability to diagnose and prevent genetic disorders before an existing pregnancy and to detect embryonic and fetal genetic errors has dramatically increased, and has substantially changed the care for couples wanting a child.

Type
Chapter
Information
Textbook of Human Reproductive Genetics , pp. 155 - 168
Publisher: Cambridge University Press
Print publication year: 2023

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References

Vermeesch, JR, Voet, T, Devriendt, K. Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet 2016;17:643–56.Google Scholar
Reumkens, K, Tummers, MHE, Gietel-Habets, JJG, et al. Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making. J Genet Couns 2019;28:533–42.Google Scholar
Birch, PH, Adam, S, Coe, RR, et al. Assessing shared decision-making clinical behaviors among genetic counsellors. J Genet Couns 2019;28(1):40–9.CrossRefGoogle Scholar
Resta, RG. What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling. Eur J Med Genet 2019;62:300–7.Google Scholar
Matt Bolz-Johnson, M, Meek, J, Nicoline Hoogerbrugge, N. Patient journeys: improving care by patient involvement. Eur J Hum Genet 2020;28:141–3.Google Scholar
van der Meij, KRM, Sistermans, EA, Macville, MVE, et al. TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands. Am J Hum Genet 2019;105:1091–101.Google Scholar
Che, H, Villela, D, Dimitriadou, E, et al. Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA. Genet Med 2020;22:962–73.Google Scholar
Harton, G, Braude, P, Lashwood, A, et al. ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod 2011;26:14–24. Erratum in Hum Reprod 2012;27:2569.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. https://doi.org/10.1093/hropen/hoaa04CrossRefGoogle ScholarPubMed
de Die-Smulders, CE, de Wert, GM, Liebaers, I, et al. Reproductive options for prospective parents in families with Huntington’s disease: clinical, psychological and ethical reflections. Hum Reprod Update 2013;19:304–15.Google Scholar
Handyside, AH, Pattinson, JK, Penketh, RJ, et al. Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1989;1(8634):347–9.Google ScholarPubMed
Sallevelt, SC, Dreesen, JC, Drüsedau, M, et al. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success. J Med Genet 2013;50:125–32.CrossRefGoogle ScholarPubMed
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;33:520–30.Google Scholar
Evers, JLH. Female subfertility. Lancet 2002;366:151–9.Google Scholar
Oud, MS, Volozonoka, L, Smits, RM, et al. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod 2019;34:932–41.Google Scholar
De Krom, G, Arens, Y, Coonen, E, et al. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod 2015;30:484–9.Google Scholar
Hortas, ML, Castilla, JA, Gil, MT, et al. Decreased sperm function of patients with myotonic muscular dystrophy. Hum Reprod 2000;15:445–8.Google Scholar
ter Welle ter-Butalid, E, Vriens, I, Derhaag, J, et al. Counseling young women with early breast cancer on fertility preservation. J Assist Reprod Genet 2019;36:2593–604.Google Scholar
Berckmoes, V, Verdyck, P, De Becker, P, et al. Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease. Hum Reprod 2019;34:949–58.Google Scholar
Karavanu, E, Zuk, O, Zeevi, D, et al. Selecting human embryos for polygenic traits has limited utility. Cell 2019;179:1–12.Google Scholar

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