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Estimation of the number of people with Down syndrome in Europe

European Journal of Human Genetics volume 29, pages 402–410 (2021)Cite this article

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A Correction to this article was published on 07 June 2022

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Abstract

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 419,000 people with DS are living in Europe; without elective terminations, there would have been about 574,000 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.

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Acknowledgements

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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Authors and Affiliations

  1. Dutch Down Syndrome Foundation, Meppel, The Netherlands

    Gert de Graaf

  2. Down Syndrome Education International, Kirkby Lonsdale, Cumbria, UK

    Frank Buckley

  3. Down Syndrome Education USA, Irvine, CA, USA

    Frank Buckley

  4. Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA

    Brian G. Skotko

  5. Department of Pediatrics, Harvard Medical School, Boston, MA, USA

    Brian G. Skotko

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  1. Gert de Graaf
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  3. Brian G. Skotko
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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). https://doi.org/10.1038/s41431-020-00748-y

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