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History:

The programme was created in 1976 by Prof. Dr. María Luisa Martínez-Frías, as a hospital-based case-control study and surveillance system. It is a full member of ICBDSR (International Clearinghouse for Birth Defects Surveillance and Research) since 1979, and is also a member of EUROCAT. In January 2002 the ECEMC Programme became integrated into the CIAC (Research Center on Congenital Anomalies), of the Instituto de Salud Carlos III (ISCIII), currently linked to the Ministry of Science, Innovation and Universities. Dr. Eva Bermejo-Sanchez is its Scientific Coordinator, as Tenured Scientist and Chief of Area at 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::

Data are obtained from about 65 hospitals distributed all over Spain (although a total of 167 hospitals have provided data along the history of the program). About 80,000 births are surveyed every year, representing around 18% 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) (http://www.fundacion1000.es/estructura-ecemc).

Legislation and funding:

It is a research programme with voluntary participation of hospitals (but mandatory subjugation to the Operating Rules for those participating), and is financed mainly by the Institute of Health Carlos III (a public organism 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), and other complementary studies are available. Biological samples are also stored in the ECEMC registry for those cases for which the collaborating physicians send them, with the informed consent of the parents.

Exposure information:

The mother of each reported infant (case or control) is interviewed within the first three days after delivery to obtain data on several exposures (parental occupation, maternal acute or chronic diseases, drug usage, illicit drugs, alcohol and tobacco maternal consumption, 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.

Background information:

Total number of births by sex and number of twin pairs in each participating hospital are gathered. Other background information is obtained from the control material.

Addresses and staff:

Eva Bermejo-Sánchez, MSc, PhD,Tenured Scientist – Chief of Area – Institute of Rare Diseases Research (IIER),Scientific Coordinator – ECEMC,Responsible for the Epidemiology and Clinical Genetics Section ,Research Center on Congenital Anomalies (CIAC),Instituto de Salud Carlos III,Avda. Monforte de Lemos, 5. Pavilion 3, 1st floor,28029 MADRID (SPAIN),Phone. +34 91 822 2434,e-mail: eva.bermejo@isciii.es,,María-Luisa Martínez-Fernández, PhD,Responsible for the Cytogenetics and Molecular Genetics Laboratory of ECEMC,Phone: +34-91-8222431,E-mail: m.martinez@externos.isciii.es,,Lourdes Cuevas-Catalina, BS,Epidemiology and Clinical Genetics Section of ECEMC,Phone: +34-91-8222428,E-mail: lcc@externos.isciii.es,,David Prieto-Merino, PhD,Director - Cátedra Internacional de Análisis Estadístico y Big Data,Universidad Católica San Antonio de Murcia (UCAM),Campus de los Jerónimos s/n. ,30107 Guadalupe (MURCIA) (SPAIN),E-mail: dprieto@ucam.edu.

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