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Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions
  1. Rikke Neess Pedersen1,
  2. Elisa Calzolari2,
  3. Steffen Husby3,
  4. Ester Garne4,
  5. EUROCAT Working group*
  1. 1Department of Pediatrics, Odense University Hospital, Odense, Denmark
  2. 2Genetic Section, Department of Experimental Medicine and Diagnosis, University of Ferrara, Ferrara, Italy
  3. 3Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense, Denmark
  4. 4Department of Paediatrics, Lillebaelt Hospital, Kolding, Denmark
  1. Correspondence to Dr Rikke Neess Pedersen, Hans Christian Andersen Children's Hospital, Odense University Hospital, Sdr. Boulevard 29, DK-5000 Odense C, Denmark; rnp{at}


Objective To describe prevalence, prenatal diagnosis and epidemiological data on oesophageal atresia from 23 well-defined European regions and compare the prevalence between these regions.

Design Population-based study using data from a large European database for surveillance of congenital anomalies (EUROCAT) for two decades (1987–2006).

Settings Twenty-three participating registries based on multiple sources of information including information about live births, fetal deaths with gestational age ≥20 weeks and terminations of pregnancy.

Patients 1222 cases of oesophageal atresia in a population of 5 019 804 births.

Results The overall prevalence was 2.43 cases per 10 000 births (95% CI 2.30 to 2.57). There were regional differences in prevalence ranging from 1.27 to 4.55. Prenatal detection rates varied by registry from >50% of cases to <10% of cases. A total of 546 cases (44.7%) had an isolated oesophageal anomaly, 386 (31.6%) were multiple malformed and 290 (23.7%) had an association or a syndrome. There were 1084 live born cases (88.7%), 43 cases were fetal deaths and 95 cases were terminations of pregnancy. One-week survival for live births was 86.9% and 99.2% if the gestational age was ≥38 weeks and isolated oesophageal atresia was present. Males accounted for 57.3% of all cases and 38.5% of live born cases were born with gestational age <37 weeks.

Conclusion There were regional differences in prevalence of oesophageal atresia in Europe. Half of all cases had associated anomalies. Prenatal detection rate increased from 26% to 36.5% over the two decades. Survival in infants with isolated oesophageal atresia born at term is high.

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  • See the end of the paper for the list of members and their affiliations of the EUROCAT Working group

  • EUROCAT Working Group members Martin Haeusler, Medical University of Graz, Austria; Vera Nelen, Director Provincial Institute for Hygiene, Antwerp, Belgium; Ingeborg Barisic, Department of Pediatrics, Referral Centre of the Ministry of Health for Surveillance of Congenital Anomalies in the Republic of Croatia, Children's University Hospital Zagreb, Clinical Hospital Center Sisers of Mercy, Zagreb, Croatia Hanitra Randrianaivo-Ranjatoelina, Naitre Aujourd'hui, Ile de la Reunion, France; Berenice Doray, Hopital de Hautepierre, Strasbourg, France; Avi Wiesel, Birth Registry Mainz Model, Childrens Hospital, University Medical Center, Johannes Gutenberg-University Mainz, Germany; Anke Rissmann, Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Germany; Mary O’Mahony, Health Service Executive, Cork, Ireland; Bob McDonnell, Health Service Executive, Dublin, Ireland; Carmel Mullaney, Health Service Executive, Kilkenny, Ireland; Amanda Neville, Registro IMER, Unità di Genetica Epidemiologica Dipartimento di Riproduzione e Accrescimento preso l’Unità di Terapia Intensiva Neonatale e Neonatologia, Azienda Ospedaliero- Universitaria di Ferrara, Ferrara, Italy; Fabrizio Bianchi, Unit of Epidemiology, IFC CNR, Tuscany Registry of Birth Defects, Pisa, Italy; Miriam Gatt, Department of Health Information and Research, Guardamangia, Malta; Marian Bakker, Eurocat Northern Netherlands, Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Joaquin Salvador, Agencia de Salut Publica de Barcelona, Spain; Marie-Claude Addor, Médecin Associée, MER, Service de Génétique Médicale Maternité, Lausanne, Switzerland; Wladimir Wertelecki, OMNI-Net for Children, Rivne, Ukraine; Elizabeth Draper, Dept Health Sciences, University of Leicester, Leicester, UK; Patricia Boyd, Congenital Anomaly Register for Oxfordshire, Berkshire and Buckinghamshire, National Perinatal Epidemiology Unit, University of Oxford, UK; Judith Rankin, Institute of Health & Society, Newcastle University, England, UK; David Tucker, Public Health Wales, Wales, UK; Diana Wellesley, University Hospitals Southampton, Faculty of Medicine and Wessex Clinical Genetics Service, UK.

  • Funding This work was supported by grants from Dagmar Marshall Foundation, AJ Andersen and Wife's Foundation, Region of Southern Denmark, University of Southern Denmark and Odense University Hospital. EUROCAT is funded by the Executive Agency for Health and Consumers, European Commission, Grant Number: 2006103.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.