Domenica Taruscio

Director of the National Centre for Rare Diseases Istituto Superiore di Sanità Roma, Italy

EUROCAT STUDY ON PREVENTION OF CONGENITAL ANOMALIES

EUROCAT WP7 Coordinator

MEMBERSHIP MEETING 2011AMSTERDAM – 13 & 14 MAY

European Surveillance of Congenital Anomalies

Supported by the EU Public Health Programme

WHO Collaborating Centre for the Epidemiological Surveillance of Congenital Anomalies

EUROCAT website - http://www.eurocat-network.eu/

What is EUROCAT?1. A European network of population-based registries

for the epidemiologic surveillance of congenital anomalies

2. Central database: > 400,000 cases, - livebirths, stillbirths and terminations of pregnancy - Ongoing

3. Start: 1979, surveying nearly 1.5 million births per year

> 40 registriesIn 20 countries

Introduction

EUROCAT Objectives• Provide essential epidemiologic information on

congenital anomalies in Europe

• Co-ordinate the establishment of new registries throughout Europe collecting comparable, standardised data

• Co-ordinate the detection and response to clusters and early warning of teratogenic exposures

Why is EUROCAT important for preconception care?

• To provide surveillance on congenital anomalies in Europe.

• Evaluation of effectiveness of primary prevention regarding congenital anomalies

• Expert group with focus on NTD and folic acid

Main Partner: University of Ulster - EUROCAT Central Registry

Partners: 34 Associated Partner10 Collaborating Partners

Starting Date*: January 2011

Duration (in months)*: 36

General Objective: To facilitate the reduction of the public health burden of congenital anomalies by epidemiological surveillance through the EUROCAT network of population-based congenital anomaly registers.

Workpackages: 9

Funding: 1.1 million euros from EU, 2.2 million euros contributed

Joint Action

Number Title Description1 Coordination of the Joint

ActionActions undertaken to manage the joint action and to make sure that it is implemented as planned

2 Dissemination of the Joint Action

Actions undertaken to ensure that the results and deliverables of the Joint Action will be made available to the target groups

3 Evaluation of the Joint Action

Actions undertaken to verify if the Joint Action is being implemented as planned and reaches the objectives

Number Title Description4 Registration, central

Database and SurveillanceRegistration of congenital anomalies, transmission to central database, website epidemiolgical tables and statistical monitoring

5 Coding and Classification, Data Quality

Standardisation and validation of data

6 Investigation of Trends, Clusters and New Exposures

Investigation of trends, clusters and exposures, and feasibility study of environmental data linkage

7 Primary Prevention of Congenital Anomalies

National plans for primary prevention and actions to prevent neural tube defects by raising folic acid status

8 Prenatal Screening, Down Syndrome and Genetic Syndromes

Prevalence and trends of chromosomal and genetic syndromes and update of website prenatal screening tables

9 Medication During Pregnancy

Improve drug exposure data and develop a postmarketing drug surveillance system

Horizontal Work Packages

Core Work Packages

Joint Action EUROCAT Primary prevention: Work Package 7

WP LEADER: ISS - CNMR

How does the “Joint Action” funding mode differ from previous projects?

– Emphasises sustainability over novelty– Recognises need for EU funding to sustain an EU system– Formally recognises Member State commitment to the

EUROCAT, financially and in terms of MS needs– Decentralises EUROCAT further– Takes us beyond “epidemiologic surveillance” to MS policy

impact via Rare Diseases policy e.g. Primary Prevention workpackage

• Spain , ECEMC – ASEREMAC• Italy Campania • Italy Tuscany - IFC-CNR• Italy Emilia Romagna – IMER• Italy – ISS (Work Package Leader)• Croatia, Zagreb – KDB• Malta - MCAR DHIR• Poland - PUMS• France, Strasbourg - UDS• Netherllands Registry - UMCG• Slovenia - UMCL• Hungary - NCHAI• University of Ulster (EUROCAT Central Registry) - UU

ASSOCIATED PARTNERS INVOLVED IN WP 7

The goal of primary prevention is to reduce

the incidence of congenital anomalies through:

- promotion of protective factors

- removal/reduction of risk factors

BD PRIMARY PREVENTION EFFORTS INCLUDE

BD SECONDARY PREVENTION EFFORTS INCLUDE

BD TERTIARY PREVENTION EFFORTS INCLUDE

EUROCAT JAWP7

Estimated %Chromosomal Abnormality 6-8 % Monogenic Abnormality 5-7 % Polygenic – Multifactorial- Low folic acid intake- Maternal conditions (e.g.:obesity, diabetes)- Smoking, drugs, hyperthermia

20-25 %

Non-genetic monofactorial -Maternal conditions (e.g.: PKU)-Infections (e.g.: rubella)-Maternal medications (e.g.: retinoids)

2-5 %

Unknown >50% Prim

ary

prev

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CAUSES OF BIRTH DEFECTS

WP7: Primary Prevention of Congenital Anomalies

• WP7 will assess the feasibility and process for considering primary prevention as an important part of national plans/strategies of EU Member States for rare diseases, with support of EUROPLAN (www.europlanproject.eu)

• The objective is to build a consensus approach on the inclusion of targeted primary prevention actions within national plans/strategies

To achieve this goal, WP7 will develop two major activities:

A) To collect and review public health actions relevant to primary prevention of birth defects

B) The actions on prevention of neural tube defects (NTD) by raising folic acid status will be considered in detail as a model for the actual development of a consensus approach.

WP7: Primary Prevention of Congenital Anomalies

A) To collect and review public health actions relevant to primary prevention of birth defects at level of:

A.1 pre- and peri-conceptional care, namely: - folic acid supplementation/fortification; - maternal lifestyles: smoking, alcohol, recreational drugs; - counselling on, and management of chronic

maternal conditions (epilepsy, diabetes, obesity, etc.) - use of drugs and health-promoting products

(including dietetic or herbal products, etc.) in collaboration with WP9;

- genetic counselling in collaboration with WP8;

A.2 census of sectorial and intersectorial policies in MS regarding primary prevention with potential relevance to birth defects, namely:

- food safety and nutrition, including promotion of healthy dietary habits;

- prevention of rubella, toxoplasmosis, etc.; - regulations on potential teratogens (environment, workplace,

pharmaceuticals); - actions on health determinants (physical activity, smoking,

alcohol, recreational drugs). Consideration will be also given to investment in research on BD

and socio-economic and ethnic determinants.

A) To collect and review public health actions relevant to primary prevention of birth defects at level of:

This will be performed by:

B.1 updated survey of policies in MSB.2 track prevalence rates of NTD through the registriesB.3 approaches to assess knowledge and attitude toward

folic acid of women in childbearing ageB.4 appraisal of strategies to monitor population folate

status.

B) The actions on prevention of neural tube defects (NTD) by raising folic acid status will be considered in detail as a model for the actual development of a consensus approach.

Number Deliverable Title

8 Report on Primary Prevention of Congenital Anomalies

Number Specific Objective Title

4 Primary prevention policy

Number Milestone title Month of achie-vement

1 Achieved collection of public health actions relevant to prevention of BD

12

2 Achieved collection of actions to prevent NTD by raising FA status

12

6.3.2 Specific objectives of this Work Package

6.3.3 List of deliverable(s) linked to this Work Package

6.3.4 Milestone reached by this WP

Report on Periconceptional Folic Acid Supplementation for Italy Edited and co-ordinated by Amanda J. Neville

This document was prepared and approved by the Scientific Committee of the Italian Network for Folic Acid Promotion for the primary prevention of birth defects

and the Italian Registers of Congenital Malformations

Sebastiano Bianca, Fabrizio Bianchi, Anna Maria Castellazzi, Elisa Calzolari, Francesco Giorgino Libero, Alberto Mantovani, Stefania Ruggeri, Gioacchino Scarano, Gianfranco Tarsitani, Domenica Taruscio,

Romano Tenconi, Giuseppe Ugolini

Pag 92-100 del Report

NCRD HAS BEEN WORKING FOR MANY YEARS IN NATIONAL AND INTERNATIONAL ACTIVITIES FOR BD PREVENTION

2002 - Meeting ISS-WHO “Folic acid: from research to public health practice” 2004 - Rapporto ISTISAN 04/26Folic acid: from research to public health practice Edited by D. Taruscio

Since 2004 - Establishment and coordination of “Italian Network for Folic Acid Promotion”To promote, coordinate and bring to the attention of the public actions in favour of a greater intake of folic acid in the periconceptional period

2009 - ESCO Report on Analysis of Risks and Benefits of Fortification of Food with Folic Acid

Question No EFSA-Q-2008-383; Issued on 6th October 2009

2009 - EFSA meeting summary reportFOLIC ACID: AN UPDATE ON SCIENTIFIC DEVELOPMENTSQuestion No EFSA-Q-2009-00415ISSN 1725-9843; 21-22 January 2009, Uppsala, Sweden

2010- “Public consultation on the EFSA draft guidance on human health risk-benefit assessment of foods” (EFSA Journal 2010; 8(7):1674 h

ttp://www.efsa.europa.eu/en/scdocs/scdoc/1674.htm)

… RECOMMENDS THAT MEMBER STATES:

Elaborate and adopt a plan or strategy as soon as possible, preferably by the end of 2013 at the latest

Take action to integrate current and future initiatives at local, regional and national levels into their plans or strategies for a comprehensive approach

Define a limited number of priority actions within their plans or strategy, with objectivs and follow-up mechanisms

Take note of the development of guidelines and recommendations of the ongoing european project EUROPLAN

Istituto Superiore di SanitàRome (Italy)

www.europlanproject.euwww.europlanproject.eu

Thanks for your attention

domenica.taruscio@iss.it