History and Funding
The Registry started in 1988 and it became a member of EUROCAT in 1989. The Registry is funded by the National Institute of Health, a body within the Ministry of Health.
Population Coverage
The Registry is population‐based which includes all mothers resident in the regions of Algarve, Alentejo, and part of the Lisboa e Vale do Tejo Region (Setubal and part of Santarem Districts). It covers approximately 18,000 births annually representing 14% of the total number of births in Portugal.
Sources of Ascertainment
Paediatricians and obstetricians and clinical geneticists are responsible for case notification in each region, up to the end of 1st year of age. Other sources of ascertainment are foetal pathology hospital departments and cytogenetic laboratory. Data are validated and coded at the central level in Lisbon.
In the last 5 years (2005-2009), the total prevalence of ALL ANOMALIES is lower than 1.5%, indicating that there are ascertainment issues.
Maximum Age at Diagnosis
Up to 1 year of age.
Terminations of Pregnancy for Fetal Anomaly (TOPFA)
Termination of pregnancy is legal up to 24 weeks gestation and requires the permission of a technical committee. Non‐viable anomalies have no upper limit. Terminations as results of diagnosis of a congenital anomaly are included in the registry.
Stillbirth and Early Fetal Deaths
The definition is 22 weeks of gestation of 500g. Most fetuses in the covered area have an autopsy performed. Stillbirths with congenital anomaly are included in the registry. Fetal deaths of earlier gestation or lower weight are not included.
Exposure Data Availability
Information about maternal drug use, maternal diseases, maternal occupation, and obstetric history is available for cases.
Denominators and Controls Information
Demographic information is available from the National Statistic Office.
Registry Description References
The operation of the registry is described in the website of the National Institute of Health.
Ethics & Consent
Data on cases is transmitted by attending doctors at hospital departments to the central registry and registered centrally without personal information. A specific numeric code permits linking registry data with clinical data at local level by the attending medical doctor.
Address for Further Information
Carlos Matias Dias, MD
Departamento de Epidemiologia
Registo Nacional de Anomalias Congénitas
Av Padre Cruz,
1649-016 Lisbon,
Portugal
Tel: +351 21 7526469
Fax: +351 21 752 6499
Email: carlos.dias@insa.min-saude.pt
Last updated: 02.05.2023