The growth of prenatal screening in Europe has reduced the number of babies being born per year with Down syndrome (DS) by an average of 54%, according to a new study published in the European Journal of Human Genetics.
The same researchers, from Massachusetts General Hospital, found in 2016 that 33% fewer babies with DS per year were born in the United States as a result of pregnancy terminations.
"People with DS were being counted sporadically, inconsistently, or not at all, depending on the country," says Brian G. Skotko, senior author of the study. "But without an accurate estimate, it's impossible for policymakers and advocacy organizations to determine how many resources and support services are needed for its Down syndrome population." Their data are laid out in both the study and a fact sheet.
The researchers also wanted to establish a baseline of DS birth rates and pregnancy termination rates ahead of widespread adoption of new non-invasive prenatal screenings (NIPS). The new screening tests can detect the likelihood of a chromosomal condition in a foetus as early as nine weeks of gestation, after which an expectant couple can elect to pursue definitive genetic testing. As NIPS becomes widely available, fewer babies with DS are expected to be born.
NIPS was introduced in the US in 2011 but has yet to be widely covered by national health care systems in European countries. "Countries that are grappling with funding decisions for NIPS should certainly be having deep discussions about its impact on the country's Down syndrome population," says Skotko, who has a 40-year-old sister with DS. Countries also must create an adequate infrastructure of support and information so that expectant couples can make informed decisions about NIPS and subsequent pregnancies.
The researchers discovered a wide variation in DS birth rates among European regions. From 2011 to 2015, Southern Europe had the highest reduction in DS births due to pregnancy terminations (71%), followed by Northern Europe (51%) and Eastern Europe (38%). There were, however, considerable differences among countries, ranging from no reduction in the percentage of babies being born with DS in Malta, where pregnancy termination is highly restricted, to an 83% reduction in Spain.
Pregnancy terminations related to DS are influenced by multiple factors. Some nations, such as Denmark, provide free access to prenatal screening, whereas there may be cost barriers for couples in other countries. A country's religious and cultural mores also play a role, as do a country's policies about the way expectant couples are counselled about prenatal screening and DS. Parents' decisions might also be influenced by the opportunities that exist for people with DS to live fulfilling, productive lives. "In the US, people with Down syndrome have great opportunities to get an education, to fall in love, and to find satisfying jobs," says Skotko.
The modelling study also estimated the number of people with DS currently living in each country. The decreasing number of DS births is offset by people with DS living longer than ever -- to an average age of around 60 in countries with resource-rich health care systems. In Europe there were 27% fewer people living with DS in the overall population in 2015 (and 21% fewer people with DS in the US) as a consequence of elective pregnancy termination from previous years.
Michael Cook is editor of BioEdge
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