The programme was created in 1976 by Prof. Dr. María Luisa Martínez-Frías, as a hospital-based case-control study and surveillance system. It contributes to EUROCAT with data since 1980, and is also a member of ICBDSR (International Clearinghouse for Birth Defects Surveillance and Research).
In January 2002 the ECEMC Programme became integrated into the UIAC (Research Unit on Congenital Anomalies), of the Institute for Rare Diseases Research (IIER) , at Instituto de Salud Carlos III (ISCIII) , currently linked to the Ministry of Science and Innovation. Dr. Eva Bermejo-Sanchez is its Scientific Coordinator, as Tenured Scientific Researcher and Director of the Institute of Rare Diseases Research (IIER) of ISCIII. ECEMC operates two Teratology Information Services since 1991, one for the general population (SITE) and another one for health professionals (SITTE) , and is also a member of ENTIS (European Network of Teratology Information Services) .
Size and Coverage
DData are obtained from about 45 hospitals distributed all over Spain (although a total of 167 hospitals have provided data along the history of the program). Around 50,000 births are surveyed every year, representing around 15% of all Spanish births.
Stillbirths of at least 24 weeks or 500 g. have been included since 1980.
Data on elective terminations of pregnancy due to the presence of congenital anomalies can be gathered in some participating hospitals. More than 300 participating physicians integrate the ECEMC’s Clinical Network (or Peripheral Group)..
Legislation, Funding and Ethics
It is a research programme with voluntary participation of hospitals (but mandatory subjugation to the Operating Rules (Operating Manual) for those participating), and is financed mainly by the Institute of Health Carlos III (a public organisatoin for research) and, partially, by non-governmental organisations.
Written Informed Consent is obtained from each case and control’s parents for gathering the data and biological samples, and the program obtained the approval of the Ethics Committee for Research of ISCIII.
Sources of Ascertainment
The detection period is the first 3 days of life, including major and/or minor/mild defects. The information comes from delivery units and paediatric departments of the participating hospitals. Mothers are interviewed directly by the participating physicians, during those first 3 days after infant’s delivery, to fill in the ECEMC standard protocols, which include more than 300 data for each child, whether case or control. The information for each case and its control is gathered by the same physician. Controls are defined as the next non-malformed infant with the same sex as the malformed infant and born in the same hospital. In many instances, photographs, imaging studies, high-resolution bands karyotypes and some molecular analyses when needed (which are performed at the central group of the ECEMC, although some molecular studies are performed externally), including NGS in selected cases, and other complementary studies are available. Biological samples are also stored in the ECEMC registry, as a collection within BioNER (Spanish National Biobank for Rare Diseases) for those cases for which the collaborating physicians send them, with the informed consent of the parents.
Maximum Age at Diagnosis
Up to 3 days of age. Longer follow-up in selected cases.
The mother of each reported infant (case or control) is interviewed (following a structured questionnaire) within the first three days after delivery to obtain data on several exposures (parental occupation, maternal acute or chronic diseases, drug usage, maternal consumption of alcohol, tobacco and illicit drugs, exposure to other chemical or physical factors), apart from the other data gathered (family history, obstetrical and demographic data, among others).
It is important to note that when the pediatricians detect the cases and select the control children, they are blinded to the different maternal and family data that they are going to collect, and both case and control mothers are interviewed by the same physician, as above mentioned.
Total number of births by sex and number of twin pairs in each participating hospital are gathered on a monthly basis. Other background information is obtained from the control material.
More information at:
Address for Further Information
Eva Bermejo-Sánchez, MSc, PhD
ECEMC, Unidad de Investigación sobre Anomalías Congénitas (UIAC)
Instituto de Investigación de Enfermedades Raras (IIER),
Instituto de Salud Carlos III,
Avda. Monforte de Lemos, 5. Pabellón 3, 1ª planta.