History and Funding

The Registry began in 1983, as part of the Central East France Registry. In 1997 the Central East Registry split up and the Auvergne region became financially independent under the responsibility of Christine Francannet, then Isabelle Perthus in 2007.

The collaboration between Auvergne and the rest of the Central East France Registry was maintained. The Central East Registry joined EUROCAT as an associated member in 1999, with the Auvergne Registry as an associated registry, and sent aggregate data back dated to 1980 (1983 for Auvergne). The registry in an “association law 1901” situated within the university hospital, in the department of genetics. It is also a part of a research team of the university of Auvergne, on the perinatal period and the pregnancy (unite de recherché EA 4681 PEPRADE: périnatalité, grossesse, environnement, pratiques médicales et développement).

The system currently has tree public main sources of funding: the Auvergne Regional Health Agency (ARS Auvergne), the French National Institute of disease Monitoring (InVS), the National Institute of Health and Medical Research (INSERM) Funding is renewed every year, depending on the redaction of annual reports and the sending of an annual financial review. The Registry was set up to monitor birth defects.

Population Coverage

The Registry is population-based II, which covers all mothers delivering within a defined geographic area, irrespective of place of residence. Approximately 7.2 % of non- resident mothers deliver within the registry area (year 2012). The Registry covers all the Auvergne region (including 4 department: Allier, Cantal, Haute-Loire and Puy-de-Dôme) with approximately 14,000 births annually which represents about 1.7% of all births in France.

Sources of Ascertainment

Notification to the registry is voluntary. Reports are received from multiple sources: paediatric records, cytogenetics laboratories, pathology laboratory, child health services, midwives, birth notifications, maternity unit records, specialised departments for medical genetics, orthopaedics, cardiology, paediatric surgery, paediatric radiology, department of prenatal diagnosis.

Active registration is performed by one data collector. She goes regularly in every department and has specific contacts with every source of information. The register has so directly access to the computing files of the patients of the university hospital (mother or infants with birth defect) A cutt-off for notification is applied : for children born in year x, notifications are taken into account until March x+2.

The Registry leader has a clinical activity of genetic counseling and stimulates colleagues to notify cases. Constant relationships are maintained with clinicians. The registry lleader and the data collector are present in every weekly staff of the multidisciplinary committee of prenatal diagnosis of the university hospital.

Each source of information is systematically recorded for every case in the database (average number of sources by case: 3.5).

Terminations of Pregnancy for Fetal Anomaly (TOPFA)

Termination of pregnancy is legal in France since 1975 and there is no upper gestational age limit, since it is about a fetal pathology of a particular gravity and incurable at the time of the diagnosis. In the case of termination of pregnancy after prenatal diagnosis of a congenital anomaly, agreement is sought from a multidisciplinary committee.

Terminations of pregnancy for fetal malformation have been registered since 1983. Notification of terminations of pregnancy is provided by the multidisciplinary committee of prenatal diagnosis (CPDP), Maternity units, cytogenetic laboratories, pathology reports and genetic department. Exhaustivity for TOPFAs is estimated close to 100%, as all TOPFAs must be authorized by CPDP.

Stillbirth and Early Fetal Deaths

Stillbirths are defined by all births occurring ≥ 22 weeks gestational age or with a birthweight > 500g. Stillbirths and infant death certificates are not routinely available as a source. Early fetal deaths/spontaneous abortions are included 22 weeks after the last menstrual period.

All terminations of pregnancy for fetal malformation are included at any gestational age. Autopsy rates for spontaneous abortions are not registered, for stillbirths 100%, for early neonatal deaths 70%, for infants deaths 33 %, for TOPF 50% (year 2012) Most autopsies of fetus or stillborn babies are performed by a fetal pathologist.

Exposure Data Availability

Informations on maternal occupation, assisted conception, illness before and durine pregnancy, drugs taken during first trimester and maternal education are available.

Denominators and Controls Information

Birth statistics are provided by the National institute of Statistics et Economics Studies (Insee). Number of births per maternal age group and number of births per months are recorded. No information on controls is collected.

Address for Further Information

Dr Isabelle Perthus
Centre d'Etude des Malformations Congénitales en Auvergne,
B.P. 31,
63401 Chamalières Cédex,
Tel: +33 4 73750756
Email: iperthus@chu-clermontferrand.fr