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Estimation of the number of people with Down syndrome in Europe


We aimed to estimate the nonselective live birth prevalence, actual live birth prevalence, reduction percentage because of selective terminations, and population prevalence for Down syndrome (DS) in European countries. The number of people with DS alive in a country was estimated by first modeling the number of live births of children with DS by year of birth. Subsequently, for these different years of birth, survival curves for people with DS were constructed and then applied to these yearly estimates of live births with DS. For Europe, 2011–2015, we estimate 8,031 annual live births of children with DS, which would have been around 17,331 births annually, absent selective terminations. The estimated reduction of live birth prevalence was, on average, 54%, varying between 0% in Malta and 83% in Spain. As of 2015, we estimate 417,000 people with DS are living in Europe; without elective terminations, there would have been about 572,000 people with DS, which corresponds to a population reduction rate of 27%. Such statistics can be important barometers for prenatal testing trends and resource allocation within countries. Disability awareness initiatives and public policy initiatives can also be better grounded with these more precise estimates.

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Fig. 1: Live birth prevalence estimates of people with Down syndrome (DS) per 10,000 live births (2011–2015) and the effect of elective terminations.
Fig. 2: Estimates of nonselective and actual live birth prevalence of children with Down syndrome per 10,000 live births, 1901–2015.
Fig. 3: Population prevalence estimates of people with Down syndrome (DS) per 10,000 inhabitants (as of 2015) and the effect of elective terminations.
Fig. 4: Estimates of the actual numbers of people with Down syndrome (DS) by age, along with nonselective and actual population prevalence per 10,000 inhabitants.


  1. 1.

    Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18:1056–65.

    CAS  Article  Google Scholar 

  2. 2.

    Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice bulletin no. 163 summary: screening for fetal Aneuploidy. Obstet Gynecol. 2016;127:979–81.

    Article  Google Scholar 

  3. 3.

    de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015;167:756–67.

    Article  Google Scholar 

  4. 4.

    de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med. 2017;19:439–47.

    Article  Google Scholar 

  5. 5.

    Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H, et al. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome. BJOG Int J Obstet Gynaecol. 2008;115:689–96.

    CAS  Article  Google Scholar 

  6. 6.

    Khoshnood B, De Vigan C, Vodovar V, Bréart G, Goffinet F, Blondel B. Advances in medical technology and creation of disparities: the case of Down syndrome. Am J Public Health. 2006;96:2139–44.

    Article  Google Scholar 

  7. 7.

    Morris JK, Garne E, Wellesley D, Addor M-C, Arriola L, Barisic I, et al. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study. Am J Med Genet A. 2014;164A:2979–86.

    Article  Google Scholar 

  8. 8.

    Loane M, Morris JK, Addor M-C, Arriola L, Budd J, Doray B, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet. 2013;21:27–33.

    Article  Google Scholar 

  9. 9.

    GBD 2017 Disease and Injury Incidence and Prevalence Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet Lond Engl. 2018;392:1789–858.

    Article  Google Scholar 

  10. 10.

    de Graaf G, Vis JC, Haveman M, van Hove G, de Graaf EAB, Tijssen JGP, et al. Assessment of prevalence of persons with down syndrome: a theory-based demographic model. J Appl Res Intellect Disabil. 2011;24:247–62.

    Article  Google Scholar 

  11. 11.

    Wu J, Morris JK. The population prevalence of Down’s syndrome in England and Wales in 2011. Eur J Hum Genet. 2013;21:1016–9.

    Article  Google Scholar 

  12. 12.

    Wu J, Morris JK. Erratum: the population prevalence of Down’s syndrome in England and Wales in 2011. Eur J Hum Genet. 2013;21:1033–4.

    Article  Google Scholar 

  13. 13.

    Alexander M, Ding Y, Foskett N, Petri H, Wandel C, Khwaja O. Population prevalence of Down’s syndrome in the United Kingdom. J Intellect Disabil Res. 2016;60:874–8.

    CAS  Article  Google Scholar 

  14. 14.

    Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, et al. Survival among people with Down syndrome: a nationwide population-based study in Denmark. Genet Med J Am Coll Med Genet. 2013;15:64–69.

    Google Scholar 

  15. 15.

    Quinones J, August 14 ALCN, 2017, Pm 4:00. ‘What kind of society do you want to live in?’: Inside the country where Down syndrome is disappearing. (accessed 13 Jan 2020).

  16. 16.

    de Graaf G, Buckley F, Skotko BG. Live births, natural losses, and elective terminations with Down syndrome in Massachusetts. Genet Med J Am Coll Med Genet. 2016;18:459–66.

    Google Scholar 

  17. 17.

    de Graaf G, Buckley F, Dever J, Skotko BG. Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. Am J Med Genet A. 2017;173:2710–9.

    Article  Google Scholar 

  18. 18.

    Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome. J Med Screen. 2002;9:2–6.

    CAS  Article  Google Scholar 

  19. 19.

    United Nations, Department of Economic and Social Affairs, Population Division. World Population Prospects:The 2017 Revision, DVD Edition. (accessed 9 Nov 2018).

  20. 20.

    United Nations, Department of Economic and Social Affairs, Statistic Division. Demographic Yearbook System. (accessed 7 Jun 2018).

  21. 21.

    EUROCAT. Table A5 - Down Syndrome (per 10,000 births). (accessed 4 Jul 2018).

  22. 22.

    Penrose LS. The incidence of mongolism in the general population. J Ment Sci. 1949;95:685–8.

    CAS  Article  Google Scholar 

  23. 23.

    World Health Organization. Raw data files of the WHO Mortality Database. (accessed 17 Sep 2019).

  24. 24.

    International Monetary Fund. World Economic Outlook Database April 2019. (accessed 3 Mar 2020).

  25. 25.

    Crombag NM, Page-Christiaens GC, Skotko BG, de Graaf G. Receiving the news of Down syndrome in the era of prenatal testing. Am J Med Genet A. 2020;182:374–85.

    Article  Google Scholar 

  26. 26.

    Crombag NMTH, Vellinga YE, Kluijfhout SA, Bryant LD, Ward PA, Iedema-Kuiper R, et al. Explaining variation in Down’s syndrome screening uptake: comparing the Netherlands with England and Denmark using documentary analysis and expert stakeholder interviews. BMC Health Serv Res. 2014;14:437.

    Article  Google Scholar 

  27. 27.

    Lott IT, Head E. Dementia in Down syndrome: unique insights for Alzheimer disease research. Nat Rev Neurol. 2019;15:135–47.

    Article  Google Scholar 

  28. 28.

    Hithersay R, Startin CM, Hamburg S, Mok KY, Hardy J, Fisher EMC, et al. Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years. JAMA Neurol. 2019;76:152–60.

    Article  Google Scholar 

  29. 29.

    Gadsbøll K, Petersen OB, Gatinois V, Strange H, Jacobsson B, Wapner R, et al. Current use of noninvasive prenatal testing in Europe, Australia and the USA: a graphical presentation. Acta Obstet Gynecol Scand. 2020;99:722–30.

    Article  Google Scholar 

  30. 30.

    Book (eISB) electronic IS. electronic Irish Statute Book (eISB). (accessed 21 Sep 2020).

  31. 31.

    The Abortion (Northern Ireland) Regulations 2020. (accessed 21 Sep 2020).

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We would like to thank Sophia Campbell for contacting Down syndrome organizations with our requests for country-specific data. We also thank Dinka Vukovic (Croatian Down Syndrome Association), Emanuela Zaimi (Down Syndrome Albania Foundation), Sergey Kuryanov (Ukrainian Charitable Organization “Down Syndrome”), Maria Madalina Turza (European Centre for the Rights of Children with Disabilities) for providing information on numbers of people with Down syndrome from registries in Croatia, Albania, Ukraine and Romania, respectively. We thank Liina Lokko and Marge Kato (Down Syndrome Association in Estonia), Ida Charlotte Bay Lund (Aarhus Universitetshospital), and Zoya Talitskaya (Downside Up Charity Fund) in providing information on number of live births of children with Down syndrome from registers in Estonia, Denmark, and Russia, respectively. We appreciate the contributors from Down syndrome associations all over Europe who gave information on screening and for the medical and social support they provide for people with Down syndrome in their countries.

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Correspondence to Brian G. Skotko.

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Conflict of interest

Dr BGS occasionally consults on the topic of Down syndrome through Gerson Lehrman Group. He receives remuneration from Down syndrome non-profit organizations for speaking engagements and associated travel expenses. Dr BGS receives annual royalties from Woodbine House, Inc., for the publication of his book, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. Within the past 2 years, he has received research funding from F. Hoffmann-La Roche, Inc. and LuMind IDSC Down Syndrome Foundation to conduct clinical trials for people with Down syndrome. Dr BGS is occasionally asked to serve as an expert witness for legal cases where Down syndrome is discussed. Dr BGS serves in a non-paid capacity on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources. Dr BGS has a sister with Down syndrome. Dr GdG had a daughter with DS, who passed away in 2005 at the age of 15. He works as science and education officer at the Dutch Down Syndrome Foundation, a non-profit organization. FB serves a CEO of Down Syndrome Education International and Down Syndrome Education USA, nonprofits engaged in research and support for young people with Down syndrome. He has a sister with Down syndrome.

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de Graaf, G., Buckley, F. & Skotko, B.G. Estimation of the number of people with Down syndrome in Europe. Eur J Hum Genet 29, 402–410 (2021).

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