Background
A surveillance system for congenital anomalies is a public health necessity.
Objectives
- To provide epidemiologic surveillance of congenital anomalies in the Parisian population for monitoring the prevalence of congenital anomalies and to provide warnings about possible teratogenic substances in the environment (e.g., medications, pollutants industrial accidents).
- To assess the impact of health activities and policies in the general population:
- To study advances in prenatal diagnosis: nuchal translucency measurements in the 1st trimester, morphology ultrasound in the 2nd, and more recently, maternal serum markers during the 1st. trimester and non-invasive prenatal testing (NIPT).
- To assess prevention activities and, especially, the impact of policies for the primary prevention of neural tube defects by periconceptional folic acid supplementation that began in France in the year 2000.
- To conduct studies in collaboration with specialized clinical departments, especially to assess the outcome of children in the general population with specific congenital anomalies.
- To contribute to etiological research, especially in the context of European collaborations (EUROmediCAT project).
- To participate in working groups and expert committees at the request of various health agencies (eg, HAS, ANSM, l’Agence de Biomédecine, the national registry committees and the steering committee of EUROCAT).
Method
- Population: Continuous registration for women living in Paris or in its surrounding suburbs (districts 92, 93, and 94) who give birth or have pregnancy termination for fetal anomaly (TOPFA) in Paris (N ~39000 per year).
- Case definition:Cases of malformations and chromosomal abnormalities defined according to the methods defined by the EUROCAT, the European Surveillance for Congenital Anomalies (including common definition of malformations, coding guidelines and list of minor abnormalities to exclude). Malformations are recorded both prenatally and during the first week of life.
- Data are collected from the medical chartes, with active case-finding in different departments and agencies: Paris maternity units, neonatology intensive care units, pediatric intensive care, and pediatric surgery, the pediatric emergency ambulance service (SMUR), cytogenetics and fetopathology departments, the departments collecting data on hospital discharge summaries (PMSI), the Paris department of the family and early childhood (which produce statistics on newborn health.
Financement
The registry has been recognized (evaluated favorably again) by the National Committee of Evaluation of Registries for the period 2017 -2021. The registry receives funding from the Public Health France as well as Inserm.
Contact
Babak Khoshnood, responsable du Registre (babak.khoshnood@inserm.fr)
Nathalie Lelong, co-responsable du Registre (nathalie.lelong@inserm.fr)
For further information
Khoshnood B, Lelong N, Lecourbe A, Ballon M, Goffinet F. Surveillance épidémiologique et diagnostic prénatal des malformations. Evolution sur 35 ans, 1981-2014 (Brochure éditée en 2016).
Khoshnood B, Lelong N, Vodovar V, Kassis M, Goffinet F. Registries of birth defects: a tool for monitoring, research, and evaluation of interventions. Bull Acad Natl Med. 2013 Feb;197(2):329-40.
SpF : www.invs.sante.fr/fr/Dossiers-thematiques/Maladies-chroniques-et-traumatismes/traumatismes/Malformations-congenitales-et-anomalies-chromosomiques
JRC-Eurocat : www.eurocat-network.eu
Principal collaborations
National collaborations
Establishment of a Federation of French Registries of congenital malformations (Registre des Antilles dirigé par Bruno Schaub, registre CEMC-Auvergne dirigé par Isabelle Perthus, registre de Bretagne dirigé par Florence Rouget, registre de la Réunion dirigé par Hanitra Randrianaivo, registre REMERA-Rhône Alpes dirigé par Emmanuelle Amar) in relation with the Public Health France (Anne Gallay, Nolwenn Regnault, Eugénia Gomes) and Inserm Charles Persoz, Corinne Alberti)
Damien Bonnet (Hôpital Necker Enfants Malades, AP-HP, Centre de référence M3C, Université Paris Descartes, Paris)
Christophe Delacourt (Hôpital Necker Enfants Malades, AP-HP, Service de pneumologie pédiatrique, Université Paris Descartes, Paris)
Lucile Houyel (Hôpital Marie Lannelongue, Service de chirurgie des cardiopathies congénitales, Le Plessis-Robinson)
Jean-Marie Jouannic (Hôpital Trousseau, AP-HP, Centre pluridisciplinaire de diagnostic prénatal, UPMC, Paris)
International collaborations
European surveillance of congenital anomalies (JRC-EUROCAT)
Safety of medication use in pregnancy (Euromedicat)
Establishing a linked European Cohort of Chilldren with Congenital Anomalies (Eurolinkcat)
International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR)
Johanna Calderon (Neuropsychologue), chercheur associé à Harvard)
Babak Choodari-Oskooei (biostatistician), MRC unit, University College London
Mithat Gönen (Senior Statistician), Sloan Cancer Center, New York
