Research Spotlight: Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021

Brian Skotko, MD, MPP, from the Mass General Down Syndrome Program and colleagues recently published a literature review in the European Journal of Human Genetics, titled Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021.

What was the question you set out to answer with this study?

The study investigated prenatal screening and diagnosis services in Europe, the United States, Australia, and New Zealand. We reviewed policy changes between 1990 to 2021 and examined the trends in access to prenatal services. We wanted to know what the prenatal screening and diagnosis practices for Down syndrome are across the globe, and which countries have subsidized selective terminations for Down syndrome, then and now.

What Methods or Approach Did You Use?

We gathered data by performing an extensive review of journals, governmental documents, information from not-for-profit organizations, correspondence with experts and other online sources.

What Did You Find?

The number of countries that subsidized these healthcare services increased over time, and government-provided coverage for abortion in the case of Down syndrome also increased during the time.  Increased accessibility to prenatal screening and diagnosis over time suggest that more fetuses with Down syndrome are being identified prenatally—and, likely, more are aborted.

More specifically, from 1990 to 2021, prenatal screening went from being available in three quarters of the countries we investigated to all of the countries. In the early 2000s, more countries began to adopt policies for increased governmental coverage of prenatal screening services.

Government-subsidized coverage for abortion services in the case of a prenatal diagnosis of Down syndrome shifted from about 50% of the studied countries in 1990 to about 75% in 2021.

What are the Implications?

The potential impact of our work is increased visibility of prenatal screening and diagnosis policies around the world. The trends of accessibility to these services in the past thirty years help to inform the shifts in healthcare policy globally. 

Understanding the trends in prenatal diagnosis of Down syndrome and accessibility to abortion services can allow for further research to investigate trends in total Down syndrome population in these countries. 

The paper will serve as a valuable resource for future researchers to leverage these trends over time to analyze the impact they have on the overall population of individuals with Down syndrome.

What are the Next Steps?

The next step is to analyze the changes in screening, diagnosis, and abortion policies and determine what impact these trends have on the birth rates and population of individuals with Down syndrome in various countries. 

We can approach this analysis by looking at each country’s policies and understanding at what times there were major shifts in policy. 

By understanding these marker dates, we can then compare with the trends in birth rate and overall population size to gain a stronger understanding of the potential effects of these policies.

About the Massachusetts General Hospital

Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The Mass General Research Institute conducts the largest hospital-based research program in the nation, with annual research operations of more than $1 billion and comprises more than 9,500 researchers working across more than 30 institutes, centers and departments. In July 2022, Mass General was named #8 in the U.S. News & World Report list of "America’s Best Hospitals." MGH is a founding member of the Mass General Brigham healthcare system.