Down syndrome accounts for 8% of all congenital anomalies. It is related to maternal age, which generally increased in Europe during the study period, with large differences in European regions. The analysis of data from the JRC-EUROCAT Central registry shows that the total prevalence of Down syndrome for 10 000 births increased from 16 in 1990 to 23 in 2015. The prenatal detection increased from 49% in 2005 to about 70 % in 2015, but territorial differences between countries and regions exist.JRC.F.1-Health in Societ

KINSNER-OVASKAINEN AGNIESZKA

LANZONI MONICA

MARTIN SIMONA

MORRIS JOAN

JRC Publications Repository

Socio-economic regional  
microscope series
EUROCAT – Surveillance of  
congenital anomalies in Europe: 
epidemiology of Down syndrome 
1990-2014
Monica Lanzoni, Agnieszka Kinsner-Ovaskainen (JRC), Joan Morris  
(Population Health Research Institute, St George’s, University of London, UK),  
Simona Martin (JRC)
European Commission 
Joint Research Centre
Socio-economic regional microscope series 
EUROCAT – Surveillance of congenital anomalies in Europe: epidemiology of 
Down syndrome 1990-2014
Down syndrome accounts for 8 % of all congenital anomalies. It is related to maternal age, which 
generally increased in Europe during the study period, with large differences in European regions.
The total prevalence of Down syndrome for 10 000 births increased from 16 in 1990 to 23 in 2015.
The prenatal detection increased from 49 % in 2005 to about 70 % in 2015, but territorial 
differences exist.
Manuscript completed in February 2019
Luxembourg: Publications Office of the European Union, 2019
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JRC115824
PDF ISBN 978-92-76-00574-2 ISSN 2599-6304    doi:10.2760/70796  KJ-BF-19-001-EN-N
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regional microscope series - EUROCAT – Surveillance of congenital anomalies in Europe: epidemiology 
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Contact information
Monica Lanzoni, Agnieszka Kinsner-Ovaskainen
Directorate for Health, Consumers and Reference Materials 
Health in Society Unit
Address: via Fermi, 2749 - Ispra (VA) - Italy
Email: monica.lanzoni@ec.europa.eu; agnieszka.kinsner-ovaskainen@ec.europa.eu
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EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990-2014
Table of contents
Preface 
The Socio-economic regional microscope series  3
Introduction  4
Occurrence of Down syndrome and associated anomalies   5
Prevalence of Down syndrome and increase in maternal age  7
Differences in pregnancy outcomes and prenatal diagnosis 
of Down syndrome in Europe   9
Acknowledgements & References 14

Preface
3
The Socio-economic regional 
microscope series
The current political and economic challenges faced by the European Union and its Member States call even 
more for evidence-informed policies. They also require tailor-made policies, developed using highly sophis-
ticated analyses based not only on country-level data, but rather on regional and sub-regional knowledge. 
National averages, in particular, bear the risk to present a misleading picture in countries with significant 
disparities between different regions and areas. 
Looking only at national averages can also limit and delay understanding of the differences between 
regions and cities – identifying leaders and laggards –, as well as prevent the identification of emerging 
trends in certain socio-economic indicators. Only a detailed analysis of data at regional and local level can 
bring these insights.
The Joint Research Centre (JRC) of the European Commission has developed the Socio-economic regional 
microscope. It is a new series of short periodical publications which aims to open-up new areas of analysis, 
and present the stories which can only be told using regional socio-economic data.
Each report presents EU socio-economic indicators according to a data storytelling principle, using a 
combination of three key elements: data, visuals (maps), and narrative. Each indicator will therefore be 
represented through maps at regional level (NUTS2), and in some cases even at the NUTS3 and local level.
The Socio-economic regional microscope will also show the breadth of the JRC regional analysis in a 
wide range of research areas: culture, economics, education, energy, healthcare, research and innovation, 
tourism, etc.
The reports, data and maps are also available on the Territorial Dashboard website of the JRC Knowledge 
Centre for Territorial Policies, in the Thematic Analyses section: https://urban.jrc.ec.europa.eu/t-board/#/ 
thematic-analyses.
Socio-economic regional microscope series
1 From 2015, after the transfer of the Central Registry and European level coordinating activities to the EC’s Joint Research Centre, 
EUROCAT is an integral part of the European Platform on Rare Diseases Registration being developed by the JRC in close collabo-
ration with the Directorate General for Health and Food Safety (DG SANTE).
2 Population-based type I registries: collect the outcome of births from mothers resident in the area covered by the registry, 
wherever the outcome occurred.
4
Introduction
Structural defects (congenital malformations, deformations, disruptions and dysplasias) and chromo-
somal abnormalities are a major cause of infant mortality, childhood morbidity, long-term disability 
and among the leading causes of years of potential life lost. Congenital Anomalies carry a high burden 
to affected individuals, their families and the community in terms of quality of life, participation in the 
community and need for services. 
EUROCAT1, founded in 1979 as the European Concerted Action on Congenital Anomalies and Twins, is a 
high quality network of population-based registries2 across Europe for the monitoring, surveillance and 
research of congenital anomalies.
Currently, the JRC-EUROCAT Central Registry holds details on approximately 800 000 cases of congenital 
anomalies collected since 1980 by 51 member registries from 23 countries, as anonymous individual 
case specific data (full members) or aggregate prevalence data in tables (associate members). More 
than 1.4 million births are surveyed per year in Europe, in which is equivalent to 26 % of the EU-28 birth 
population being covered. EUROCAT produces statistics on outcomes and prevalence rates for a wide 
range of major congenital anomalies annually. The data cover all pregnancy outcomes including live 
births, stillbirths, late foetal deaths from 20 weeks of gestation and terminations of pregnancy for foetal 
anomalies (TOPFA). 
EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990-2014
54
Down syndrome, a disorder caused by trisomy of chromosome 21, accounts for approximately 8 % of all 
congenital anomalies. The total prevalence of Down syndrome (including all pregnancy outcomes) in the 
EUROCAT registries in the years 1990-2014 is presented in Figure 1 in the next page.
Down syndrome is associated with many physical anomalies and intellectual disabilities [1]. Over 43 % of 
babies with Down syndrome have a major cardiac anomaly. Other major non-cardiac congenital anomalies 
are also frequent (15 %), particularly in the digestive system and limbs (Table 1).
Occurrence of Down syndrome 
and associated anomalies
System % of live birth  and fetal death cases
Congenital Heart Defects 43.6 %
Digestive system 7.0 %
Limbs 3.3 %
Urinary 1.9 %
Nervous system 0.9 %
Eye 1.6 %
Genital 0.5 %
Ear, face and neck 1.2 %
Oro-facial clefts 0.4 %
Respiratory 1.2%
Abdominal wall defects 0.3 %
Table 1. Percentage of cases of Down syndrome (live birth and fetal death from 20 weeks of 
gestation) with at least one anomaly referred to a given system, which was reported by selected 
EUROCAT registries [1]. 
Socio-economic regional microscope series
Figure 1. Total prevalence  
of Down syndrome per 10.000  
total births in the EUROCAT 
registries for five-years intervals 
(1990-1994, 1995-1999,  
2000-2004, 2005-2009  
and 2010-2014).
Note: The areas in white  
are not covered by  
the EUROCAT registries.
0 - 15.9
26 - 35.9
16 - 25.9
≥ 36
Prevalence per 10 000 
total births
1990 - 1994
2000 - 2004
1995 - 1999
2005 - 2009
2010 - 2014
EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990-2014
Down syndrome is known to be more prevalent in children born to older mothers. The overall increasing 
prevalence of Down syndrome during the last decades is mainly due to the in crease in mean maternal age, 
because the age-specific prevalence remains constant with the distribution shown in Figure 2. 
Prevalence of Down syndrome 
and increase in maternal age 
Pr
ev
al
en
ce
 p
er
 1
0 
00
0 
to
ta
l b
irt
hs
0
20
40
60
80
100
120
140
160
< 20 20 - 24 25 - 29
Maternal age groups
30 - 34 35 - 39 40 or more
The average age of women giving birth has steadily increased in the last decades [2]. This tendency is ev-
ident also in the areas covered by EUROCAT. 
Figure 3 shows that there is an increase in the percentage of mothers aged ≥35 in the population of the 
EUROCAT registries, but there is also a large variation in the maternal age distribution in European regions.
7
Figure 2. Total prevalence of Down syndrome in 10.000 total births by six maternal age groups (based on EUROCAT data 1990-2014).
Socio-economic regional microscope series
Figure 3. Percentage of mothers 
with age ≥35 in the population 
of the EUROCAT registries for 
five-years intervals (1990-1994, 
1995-1999, 2000-2004,  
2005-2009 and 2010-2014).
Note: The areas in white  
are not covered by  
the EUROCAT registries.
≤ 10.9 %
21 - 30.9 %
11 - 20.9 %
≥ 31 %
Percentage of  
mothers with age ≥35  
in the population 
Data not availabale
1990 - 1994
2000 - 2004
1995 - 1999
2005 - 2009
2010 - 2014
EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990-2014
An important public health indicator developed by EUROCAT [3] is the prevalence of Down syndrome in 
live born children, which has an impact on health service requirements and socio-economic implications. 
This indicator gives the combined effect of delayed childbearing, and of policies on prenatal screening 
and termination of pregnancy.
Although the total prevalence increased in the last two decades, the prevalence of live births overall re-
mains stable, while there is a rise in the prevalence of TOPFA for Down syndrome (Figure 4). 
Differences in pregnancy  
outcomes and prenatal diagnosis 
of Down syndrome in Europe  
There are significant regional differences in both total and live birth prevalence of Down syndrome. 
The variation between the different countries depends on the national policies regarding terminations of 
pregnancy for foetal anomalies, as well as on the availability and provision of prenatal screening. 
In most countries where TOPFA is allowed, an increase in terminations for Down syndrome is observed in 
the last years (Figure 5). 
Pr
ev
al
en
ce
 p
er
 1
0 
00
0 
 b
irt
hs
0
5
10
15
20
25
1990 - 1994 1995 - 1999 2000 - 2004 2005 - 2009 2010 - 2014
Figure 4. Total prevalence of Down syndrome in Europe per 10 000 total births in EUROCAT registries for 5-years intervals (1990-1994, 1995-1999, 2000-
2004, 2005-2009, 2010-2014), according to outcome (live birth or TOPFA). 
9
Live birthsTOPFA
Socio-economic regional microscope series
Figure 5. Percentage of Down 
syndrome diagnoses resulting  
in a TOPFA reported by  
the EUROCAT registries for 
five-years intervals (1990-1994, 
1995-1999, 2000-2004,  
2005-2009 and 2010-2014). 
Note: Cork and Kerry (Ireland)  
reported some TOPFA cases 
where termination was  
performed abroad.  
The areas in white are not  
covered by the EUROCAT  
registries.
≤ 15.9 %
41 - 69.9 %
16 - 40.9 %
≥ 70 %
Percentage of Down  
Syndrom diagnoses  
resulting in TOPFA
TOPFA not allowed
1990 - 1994
2000 - 2004
1995 - 1999
2005 - 2009
2010 - 2014
EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990-2014
National prenatal screening programs for Down syndrome have been established in many European coun-
tries. The possibilities of prenatal diagnosis of Down syndrome have changed in the last two decades, 
with the availability of new and more reliable methods (including non-invasive techniques, such as serum 
screening test or the cell-free foetal DNA detection in maternal blood) [4]. 
The increase in prenatal diagnosis at younger gestational ages contributes, in addition to the maternal 
age, to the increase of the overall prevalence identifying affected foetuses that, if not detected prenatally, 
would have resulted in an undiagnosed foetal loss at a later gestation.  
The use of the different techniques/methods varies depending on the countries’ screening policy, screening 
related costs and reimbursement possibilities, as well as on the local policy on TOPFA (e.g. the use of some 
screening methods is not necessary and often not done if TOPFA is not allowed). 
Figure 6 shows the distribution of the different screening techniques used for prenatal diagnosis of 
Down syndrome in the last ten years. There has been also an overall increase in the percentage of cases 
prenatally diagnosed in the last ten years. 
0 %
2005 - 2006 
(49 %)
2007 - 2008 
(50 %)
2009 -2010 
(56 %)
2011 - 2012 
(65 %)
2013 - 2014 
(70 %)
10 %
20 %
30 %
40 %
50 %
60 %
70 %
80 %
90 %
100 %
Figure 6. Distribution of the screening techniques reported for prenatal diagnosis of Down syndrome in the EUROCAT registries and % of cases prenatally 
diagnosed (in brackets). Two-years intervals (2005-2006, 2007-2008, 2009-2010, 2011-2012 and 2013-2014).
Ultrasound at GA 14 - 21 weeksUltrasound at GA < 14 weeks Ultrasound at GA ≥ 22 weeks
Serum/combined screeningUltrasound GA not known CVS or amniocentesis
Other test positive
11
Socio-economic regional microscope series
12
Acknowledgements, Acronyms  
& References
Acknowledgements
We would like to acknowledge all the active and past EUROCAT registries (http://www.eurocat-network.eu/
pagecontent.aspx?tree=allmembers) for providing the data for this report.
Active EUROCAT registries: Austria (Styria); Belgium (Antwerp, Hainaut-Namur); Croatia (Zagreb); Czech 
Republic; Denmark (Odense); Finland; France (Auvergne, Brittany, French West Indies, Isle de Réunion, Paris, 
Rhône-Alpes); Germany (Mainz, Saxony Anhalt); Hungary; Italy (Emilia Romagna, Tuscany); Ireland (Cork & 
Kerry, Dublin, South East Ireland); Malta; Netherlands (North Netherlands); Norway; Poland (Polish National 
Registry, Wielkopolska); Portugal (South Portugal); Spain (Basque Country, Valencia Region); Sweden; Swit-
zerland (Vaud); Ukraine (OMNI-Net); United Kingdom (East Midlands & South Yorkshire, Northern England, 
South West England, Thames Valley, Wessex, Wales).
Past EUROCAT registries: Bulgaria (Sofia); France (Central East France, Strasbourg); Ireland (Galway); 
Italy (Campania, North East Italy, Sicily); Spain (Asturias, Barcelona); United Kingdom (Glasgow, North West 
Thames).  
We thank also the JRC-EUROCAT Management Committee for critically reviewing this contribution. 
Acronyms
TOPFA - termination of pregnancy for foetal anomalies (Figure 5, explained in the text on page 4) 
GA – gestational age (Figure 6)
CVS – chorionic villus sampling (Figure 6)
References
[1] Morris et al. (2014) Major congenital anomalies in babies born with Down syndrome: a EUROCAT 
population-based registry study. Am J Med Genet A. 164A:2979-86.
[2] EUROSTAT Fertility statistics: 
http://ec.europa.eu/eurostat/statistics-explained/index.php/Fertility_statistics (accessed 31.01.2019)
[3] Khoshnood B (2011) Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth 
Defects Res A Clin Mol Teratol. 91 Suppl 1:S16-22.
[4] Loane et al. (2013) Twenty-year trends in the prevalence of Down syndrome and other trisomies in 
Europe: impact of maternal age and prenatal screening. Eur Jo Human Genet, 21:27-33.
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EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990 - 2014

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EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990 - 2014

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