Updated estimates of births and population of people with Down syndrome in the USA

Research Papers and reports
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To get started with posts in this category, I am pleased to share a recent update to work with colleagues Gert de Graaf and Brian Skotko that began 10 years ago.

Since then, we have endeavoured to track trends in births and the populations of people with Down syndrome in many countries. We began with births and populations in the USA[1–4], then Europe[5] and, more recently, Australia and New Zealand.[6]

To accompany the papers, we have produced factsheets to summarise our findings:

As new data becomes available, we update these factsheets using the original methodologies.

We have recently updated our US factsheet with estimates of live births and population through to the 2016-2020 period. (The data is published as five-year totals, so, for example, births reported for 2018 are the average in the 2016-2020 period.)

We found that overall live births of babies with Down syndrome in the USA have not changed much in recent years, with around 5,000 babies with Down syndrome born annually. All live births in the USA have been falling since 2007, and so the live birth prevalence of Down syndrome has been rising. In the absence of prenatal screening and interventions, live birth prevalence would have risen substantially faster due to rising average maternal ages.

We estimate that there were around 73,000 children under the age of 15 years living with Down syndrome in 2018.

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  1. de Graaf, G., Buckley, F., & Skotko, B. G. (2015). Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. American Journal of Medical Genetics. Part A, 167A(4), 756–767. doi:10.1002/ajmg.a.37001
  2. de Graaf, G., Buckley, F., & Skotko, B. G. (2016). Live births, natural losses, and elective terminations with Down syndrome in Massachusetts. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 18(5), 459–466. doi:10.1038/gim.2016.15
  3. de Graaf, G., Buckley, F., Dever, J., & Skotko, B. G. (2017). Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. American Journal of Medical Genetics. Part A, 173(10), 2710–2719. doi:10.1002/ajmg.a.38402
  4. de Graaf, G., Buckley, F., & Skotko, B. G. (2017). Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 19(4), 439–447. doi:10.1038/gim.2016.127
  5. de Graaf, G., Buckley, F., & Skotko, B. G. (2021). Estimation of the number of people with Down syndrome in Europe. European Journal of Human Genetics: EJHG, 29(3), 402–410. doi:10.1038/s41431-020-00748-y
  6. de Graaf, G., Skladzien, E., Buckley, F., & Skotko, B. G. (2022). Estimation of the number of people with Down syndrome in Australia and New Zealand. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 24(12), 2568–2577. doi:10.1016/j.gim.2022.08.029