Abstract
Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990–2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions. Prenatal screening services from 1990–2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.
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Acknowledgements
We would like to thank and acknowledge Dr. Anila Laku from Mother Teresa Hospital & Emanuela Zaimi, MA., from Down Syndrome Albania Foundation for their aid in finding information on prenatal services in Albania; Marge Kato from Down Syndrome Association Estonia for her information on prenatal services in Estonia; Yuliya Dmytrenko from Ukraine Down Syndrome Organization for her information on prenatal services in Ukraine; Dr. Ellen Skladzien from Down Syndrome Australia and Dr. Melody Menezes Bsc, GDipGenetCouns, Ph.D., MHGSA from Monash Ultrasound for Women for their information on prenatal services in Australia; Zandra Vaccarino, National Executive Officer of the New Zealand Down Syndrome Association (NZDSA); Kate Alvrez from Family Planning New Zealand for her information on prenatal services in New Zealand; and Maria-Madalina Turza, President, European Centre for the Rights of Children with Disabilities for her information on prenatal services in Romania.
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Conceptualization: GdG, HCW, PvC, FB, BGS; Data curation: HCW; Formal analysis: HCW; Funding Acquisition: n/a; Investigation: HCW; Methodology: HCW; Project Administration: HCW, BGS; Resources: n/a.; Software: HCW; Supervision: GdG, PvC, FB, BGS; Validation: HCW; Visualization: HCW: Writing-original draft: HCW, BGS; Writing-review & editing: GdG, HCW, PvC, FB, BGS.
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Dr. Skotko 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. Skotko 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 two years, he has received research funding from F. Hoffmann-La Roche, Inc. and LuMind Research Down Syndrome Foundation to conduct clinical trials for people with Down syndrome. Dr. Skotko is occasionally asked to serve as an expert witness for legal cases where Down syndrome is discussed. Dr. Skotko 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. Skotko has a sister with Down syndrome. Dr. de Graaf 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 nonprofit organization. Frank Buckley serves as CEO of Down Syndrome Education International and Down Syndrome Education USA, nonprofits engaged in research and support for young people with Down syndrome. He had a sister with Down syndrome, who passed away in 2020. Dr. van Casteren has a daughter with Down syndrome. Henry Wilmot declares no conflicts of interest.
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Wilmot, H.C., de Graaf, G., van Casteren, P. et al. Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021. Eur J Hum Genet 31, 497–503 (2023). https://doi.org/10.1038/s41431-023-01330-y
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DOI: https://doi.org/10.1038/s41431-023-01330-y