EUROCAT is a network of population-based congenital anomaly registries across

Europe Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, the Mediterranean Sea to the south, and Asia to the east ...

for the monitoring, surveillance and

research Research is creative and systematic work undertaken to increase the stock of knowledge. It involves the collection, organization, and analysis of evidence to increase understanding of a topic, characterized by a particular attentiveness to ...

of congenital anomalies. It was founded in 1979. As of January 2023, the network has 43 member registries from 23 countries covering more than 25% of European births per year. The detailed registry descriptions can be found on the EUROCAT website

Objectives

EUROCAT's objectives are to: * Provide essential epidemiologic information on congenital anomalies in

. * Facilitate the early warning of

teratogenic Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by ...

exposures. * Evaluate the effectiveness of

primary prevention Preventive healthcare, or prophylaxis, is the application of healthcare measures to prevent diseases.Hugh R. Leavell and E. Gurney Clark as "the science and art of preventing disease, prolonging life, and promoting physical and mental health a ...

. * Assess the impact of developments in prenatal screening. * Act as an information and resource center regarding clusters or exposures or

risk factor In epidemiology, a risk factor or determinant is a variable associated with an increased risk of disease or infection. Due to a lack of harmonization across disciplines, determinant, in its more widely accepted scientific meaning, is often use ...

s for concern. * Provide a ready

collaborative network A collaborative network is a network consisting of a variety of entities (e.g. organizations and people) that are largely autonomous, geographically distributed, and heterogeneous in terms of their operating environment, culture, social capital and ...

and

infrastructure Infrastructure is the set of facilities and systems that serve a country, city, or other area, and encompasses the services and facilities necessary for its economy, households and firms to function. Infrastructure is composed of public and pri ...

for research related to the causes and prevention of congenital anomalies and the treatment and care of affected children. * Act as a catalyst for the setting up of registries throughout Europe collecting comparable, standardised data.

History

EUROCAT was founded in 1979 as the European Concerted Action on Congenital Anomalies and Twins. The EUROCAT Central Registry was based in

Brussels Brussels, officially the Brussels-Capital Region, (All text and all but one graphic show the English name as Brussels-Capital Region.) is a Communities, regions and language areas of Belgium#Regions, region of Belgium comprising #Municipalit ...

from 1979 to 1999 and at the

University of Ulster Ulster University (; Ulster Scots: or ), legally the University of Ulster, is a multi-campus public research university located in Northern Ireland. It is often referred to informally and unofficially as Ulster, or by the abbreviation UU. It i ...

from 2000 to 2014. In 2015 the Central Registry was transferred to the European Commission's

Joint Research Centre The Joint Research Centre (JRC) is the European Commission's science and knowledge service which employs scientists to carry out research in order to provide independent scientific advice and support to European Union (EU) policy. Leadersh ...

(JRC) in

Ispra Ispra is a ''comune'' and small town on the eastern coast of Lake Maggiore, in the province of Varese (Lombardy, northern Italy). Toponymy Attested by the name ''Ispira'' (712), ''Ispira'' (XIV). Appears as ''Ispratium'' in Aegidius Tschudi's '' ...

Italy Italy, officially the Italian Republic, is a country in Southern Europe, Southern and Western Europe, Western Europe. It consists of Italian Peninsula, a peninsula that extends into the Mediterranean Sea, with the Alps on its northern land b ...

, and it is now an integral part of the European Platform on Rare Disease Registration. Leadership is provided by the JRC-EUROCAT Management Committee, comprising elected members from the EUROCAT congenital anomaly registries and representatives from the JRC.

Methodology

All EUROCAT member registries use multiple sources of information to ascertain cases in live births, late

fetal death Perinatal mortality (PNM) is the death of a fetus or neonate and is the basis to calculate the perinatal mortality rate. ''Perinatal'' means "relating to the period starting a few weeks before birth and including the birth and a few weeks after bi ...

s (>20 weeks gestational age) and terminations of pregnancy for fetal anomaly at any

gestational age In obstetrics, gestational age is a measure of the age of a pregnancy taken from the beginning of the woman's last menstrual period (LMP), or the corresponding age of the gestation as estimated by a more accurate method, if available. Such metho ...

. EUROCAT has achieved a high level of data harmonisation and

interoperability Interoperability is a characteristic of a product or system to work with other products or systems. While the term was initially defined for information technology or systems engineering services to allow for information exchange, a broader de ...

between registries through the standardisation of definitions, diagnoses and

terminology Terminology is a group of specialized words and respective meanings in a particular field, and also the study of such terms and their use; the latter meaning is also known as terminology science. A ''term'' is a word, Compound (linguistics), com ...

, principally by the development of the EUROCAT Guides and software for data management. The EUROCAT

methodology In its most common sense, methodology is the study of research methods. However, the term can also refer to the methods themselves or to the philosophical discussion of associated background assumptions. A method is a structured procedure for bri ...

is recognized worldwide and is used by many research groups.

JRC-EUROCAT Central Registry and the Central Database

The role of the JRC-EUROCAT Central Registry is (i) to maintain and further develop the EUROCAT Central Database, (ii) to ensure secure

data transmission Data communication, including data transmission and data reception, is the transfer of data, signal transmission, transmitted and received over a Point-to-point (telecommunications), point-to-point or point-to-multipoint communication chann ...

and (iii) to facilitate

data management Data management comprises all disciplines related to handling data as a valuable resource, it is the practice of managing an organization's data so it can be analyzed for decision making. Concept The concept of data management emerged alongsi ...

in all registries. Data management includes

data validation In computing, data validation or input validation is the process of ensuring data has undergone data cleansing to confirm it has data quality, that is, that it is both correct and useful. It uses routines, often called "validation rules", "valida ...

, data harmonization and quality assessment using validated international classification systems where possible, which are defined in the EUROCAT Guide 1.5. Data are transmitted by individual registries to the JRC-EUROCAT Central Registry twice a year, in February and October, via a secure web-portal. The validated data included in the Central Database are used by the Central Registry to perform routine

statistical analyses Statistics (from German: ', "description of a state, a country") is the discipline that concerns the collection, organization, analysis, interpretation, and presentation of data. In applying statistics to a scientific, industrial, or social ...

for epidemiological surveillance. The Central Registry also provides data for research and surveillance purposes and supports the coordination and dissemination activities of the network.

Annual surveillance of congenital anomalies

One key function of EUROCAT is to publish annual statistics on

prevalence In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number o ...

and prenatal detection rates for a wide range of major congenital anomalies. The data covers all

pregnancy Pregnancy is the time during which one or more offspring gestation, gestates inside a woman's uterus. A multiple birth, multiple pregnancy involves more than one offspring, such as with twins. Conception (biology), Conception usually occurs ...

outcomes (including terminations) from 20 weeks

gestation Gestation is the period of development during the carrying of an embryo, and later fetus, inside viviparous animals (the embryo develops within the parent). It is typical for mammals, but also occurs for some non-mammals. Mammals during pregn ...

. The JRC-EUROCAT Central Registry also performs a

statistical analysis Statistical inference is the process of using data analysis to infer properties of an underlying probability distribution.Upton, G., Cook, I. (2008) ''Oxford Dictionary of Statistics'', OUP. . Inferential statistical analysis infers properties of ...

of temporal clusters and pan-European trends in prevalence of congenital anomalies.

References