Skip to main content Accessibility help
×
Hostname: page-component-76fb5796d-x4r87 Total loading time: 0 Render date: 2024-04-28T09:06:59.132Z Has data issue: false hasContentIssue false

Chapter 10 - Preconception Genetics Analysis/Screening in IVF

Published online by Cambridge University Press:  15 December 2022

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

The Human Genome Project officially began in the USA in October 1990 under the auspices of the Department of Energy and the National Institutes of Health (NIH) under the direction of Francis Collins. The objective was to build genetic and physical maps of the entire human genome, and at the same time to develop the technology needed to perform DNA sequencing on a large scale. Extensive international collaboration and advances in the field of genomics and bioinformatics enabled the first essentially complete version of the human genome (92.3% of the total) to be officially announced 13 years later, two years ahead of schedule, on April 14, 2003, with 99.9% reliability.

Type
Chapter
Information
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

Wilson, JMG, Jungner, G. Principles and Practice of Screening for Disease. Geneva: World Health Organization, 1968.Google Scholar
Angastiniotis, M, Kyriakidou, S, Hadjiminas, M. Comment on a endigué la thalassémie à Chypre. Forum Mondial de la Santé 1986;7(3):308–15.Google Scholar
Angastiniotis, M, Modell, B, Englezos, P, Boulyjenkov, V. Prevention and control of haemoglobinopathies. Bull World Health Organ 1995;73(3):375–86.Google Scholar
Kaback, MM. Screening and prevention in Tay–Sachs disease: origin, update, and impact. Adv Genet 2001;44:253–65.Google Scholar
Sagi-Dain, L, Weissman, I, Cohen-Kfir, N, et al. Genetic counseling of high-risk isolated populations: a worldwide challenge. Birth Defects Res 2020;112(4):316–20.Google Scholar
Noor, FA, Sultana, N, Bhuyan, GS, et al. Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population. Orphanet J Rare Dis 2020;15(1):15.Google Scholar
Zlotogora, J, Shalev, SA. The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations. Am J Med Genet A 2010;152A:2023–8.CrossRefGoogle ScholarPubMed
Zlotogora, J, Patrinos, GP. The Israeli National Genetic database: a 10-year experience. Hum Genomics 2017;11(1):5.Google Scholar
Delatycki, MB, Alkuraya, F, Archibald, A, et al. International perspectives on the implementation of reproductive carrier screening. Prenat Diagn 2020;40(3):301–10.Google Scholar
National Institutes for Health. Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med 1999;159:1529–39.Google Scholar
Grody, WW, Thompson, BH, Gregg, AR, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 2013;15(6):482–3.Google Scholar
Edwards, JG, Feldman, G, Goldberg, J, et al. Expanded carrier screening in reproductive medicine: points to consider. A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol 2015;125:653–62.Google Scholar
American College of Obstetricians and Gynecologists. Committee opinion no. 690: carrier screening in the age of genomic medicine. Obstet Gynecol 2017;129(3): e35–e40.Google Scholar
Henneman, L, Borry, P, Chokoshvili, D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2017;25(11):1291.Google Scholar
Castilla, JA, Abellán-García, F, Alamá, P, et al. Cribado Genético en Donación de Gametos. Madrid: Grupo de trabajo de Donación de Gametos y Embriones de la SEF, 2019.Google Scholar
Therrell, BL, Padilla, CD, Loeber, JG, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171–87.Google Scholar
Williamson, R. Universal community carrier screening for cystic fibrosis? Nat Genet 1993;3(3):195201.Google Scholar
Alford, RL, Arnos, KS, Fox, M, et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med 2014;16:347–55.CrossRefGoogle ScholarPubMed
Shraga, R, Yarnall, S, Elango, S, et al. Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening. BMC Genet 2017;18:99.CrossRefGoogle ScholarPubMed
Zlotogora, J. The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? Isr J Health Policy Res 2019;8(1):73.Google Scholar
Haque, IS, Lazarin, GA, Kang, HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA 2016;316(7):734–42.Google Scholar
Rink, B, Romero, S, Biggio, JR Jr, Saller, DN Jr, Giardine, R. Committee opinion No. 691. Carrier screening for genetic conditions. Obstet Gynecol 2017;129(3): e41–e55.Google Scholar
Capalbo, A, Chokoshvili, D, Dugoff, L, et al. Should the reproductive risk of a couple aiming to conceive be tested in the contemporary clinical context? Fertil Steril 2019;111(2):229–38.Google Scholar
Van der Hout, S, Holtkamp, KC, Henneman, L, de Wert, G, Dondorp, WJ. Advantages of expanded universal carrier screening: what is at stake? Eur J Hum Genet 2016;25(1):1721.Google Scholar
Rowe, CA, Wright, CF. Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet 2020;11(1):2138.Google Scholar
Bell, CJ, Dinwiddie, DL, Miller, NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011;3:65ra64.Google Scholar
Bonte, P, Pennings, G, Sterckx, S. Is there a moral obligation to conceive children under the best possible conditions? A preliminary framework for identifying the preconception responsibilities of potential parents. BMC Med Ethics 2014;15:5.Google Scholar
Ropers, HH. On the future of genetic risk assessment. J Community Genet 2012;3:229–36.Google Scholar
Plantinga, M, Birnie, E, Abbott, KM, et al. Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. Eur J Hum Genet 2016;24:1417–23.Google Scholar
Human Genetics Commission. Increasing Options, Informing Choice: A Report on Preconception Genetic Testing and Screening. London: HGC, 2011.Google Scholar
Gregg, AR, Edwards, JG. Prenatal genetic carrier screening in the genomic age. Semin Perinatol 2018;42:303–6.Google Scholar
Zlotogora, J, Meiner, V. Ashkenazi carrier screening for reproductive planning: is this what we planned for? Genet Med 2016;18(5):529.Google Scholar
Prior, TW. Spinal muscular atrophy: newborn and carrier screening. Obstet Gynecol Clin North Am 2010;37:2336.Google Scholar
Archibald, AD, Smith, MJ, Burgess, T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med 2018;20(11):1485.Google Scholar
Schuurmans, J, Birnie, E, Ranchor, AV, et al. GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? Eur J Hum Genet 2020;28: 182–92.Google Scholar
Chokoshvili, D, Vears, D, Borry, P. Expanded carrier screening for monogenic disorders: where are we now? Prenat Diagn 2018;38:5966.Google Scholar
Guo, MH, Gregg, AR. Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels. Genet Med 2019;21(9):1940–7.Google Scholar
Ben-Shachar, R, Svenson, A, Goldberg, JD, Muzzey, D. A data-driven evaluation of the size and content of expanded carrier screening panels. Genet Med 2019;21(9):1931–9.Google Scholar
Henneman, L, Borry, P, Chokoshvili, D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24(6): e1e12.Google Scholar
Gebhardt, DOE. Sperm donor suffers years later from inherited disease. J Med Ethics 2002;28(4):213; discussion 214.Google Scholar
Tizzano, EF, Cuscó, I, Barceló, MJ, Parra, J, Baiget, M. Should gamete donors be tested for spinal muscular atrophy? Fertil Steril 2002;77(2):409–11.CrossRefGoogle ScholarPubMed
Weissenberg, R, Litmanovitz, T, Dekel, M, et al. Is sperm donor karyotype analysis necessary? Reprod Biomed Online 2007;14(6):724–6.Google Scholar
Baskovich, B, Hiraki, S, Upadhyay, K, et al. Expanded genetic screening panel for the Ashkenazi Jewish population. Genet Med 2016;18(5):522–8.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org 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
×