Advertisement

The Prevalence of Congenital Anomalies in Europe

  • Helen DolkEmail author
  • Maria Loane
  • Ester Garne
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 686)

Abstract

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003–2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.

Keywords

Congenital anomalies Prevalence Registers Perinatal mortality 

References

  1. 1.
    Abramsky L, Dolk H and a EUROCAT Folic Acid Working Group (2007) Should Europe fortify a staple food with folic acid? Lancet 369:641–642PubMedCrossRefGoogle Scholar
  2. 2.
    Abramsky L, Busby A, Dolk H (2005) Promotion of perinconceptional folic acid has had limited success. J R Soc Promot Health 125(5):206–208PubMedCrossRefGoogle Scholar
  3. 3.
    Bianchi F, Bianca S, Linzalone N, Madeddu A (2004) Surveillance of congenital malformations in Italy: an investigation in the province of Siracusa. Epidemiol Prev 28(2):87–93PubMedGoogle Scholar
  4. 4.
    Bove F, Shim Y, Zeitz P (2002). Drinking water contaminants and adverse pregnancy outcomes: a review. Environ Health Perspect 110(Suppl 1):61–74PubMedGoogle Scholar
  5. 5.
    Boyd PA, de Vigan C, Khoshnood B, Loane M, Garne E, Dolk H and the EUROCAT Working Group (2008) “Survey of Prenatal Screening Policies in Europe for Structural Malformations and Chromosomal Anomalies, and Their Impact on Detection and Termination Rates for Neural Tube Defects and Down’s Syndrome”, BJOG 115:689–696PubMedCrossRefGoogle Scholar
  6. 6.
    Busby A, Armstrong B, Dolk H, Armstrong N, Haeusler M, Berghold A, Gillerot Y, Baguette A, Gjergja R, Barisic I, Christiansen M, Goujard J, Steinbicker V, Roesch C, McDonnell R, Scarano G, Calzolari E, Neville A, Cocchi G, Bianca S, Gatt M, de Walle H, Braz P, Latos-Bielenska A, Gener B, Portillo I, Addor M-C, Abramsky L, Ritvanen A, Robert-Gnansia E, Daltveit, A, Aneren G, Ollars B, Edwards G (2005a) Preventing neural tube defects in Europe: a missed opportunity. Reprod Toxicol 20(3):393–402PubMedCrossRefGoogle Scholar
  7. 7.
    Busby A, Abramsky L, Dolk H, Armstrong B and a EUROCAT Folic Acid Working Group (2005b) Preventing neural tube defects in Europe: population based study. Br Med J 330:574–575CrossRefGoogle Scholar
  8. 8.
    Calzolari E, Bianchi F, Rubini M, Ritvanen A, Neville A and a EUROCAT Working Group (2004) Epidemiology of cleft palate in Europe: implications for genetic research strategy. Cleft Palate Craniofac J 41(3):244–249PubMedCrossRefGoogle Scholar
  9. 9.
    Cordier S, Bergeret A, Goujard J, Ha M-C, Ayme S, Bianchi F, Calzolari E, De Walle H, Knill-Jones R, Candela S, Dale I, Danaché B, De Vigan C, Fevotte J, Kiel G, Mandereau L, for the Occupational Exposure and Congenital Malformations Working Group (1997) Congenital malformations and maternal occupational exposure to glycol ethers. Epidemiology 8(4):355–363PubMedCrossRefGoogle Scholar
  10. 10.
    Dadvand P, Rankin J, Shirley MD, Rushton S, Pless-Mulloli T (2009) Descriptive epidemiology of congenital heart diseases in Northern England. Paediatr Perinatal Epidemiol 23:58–65CrossRefGoogle Scholar
  11. 11.
    De Walle HE, de Jong van den Berg LT (2007) Growing gap in folic acid intake with respect to level of education in the Netherlands. Commun Genet 10:93–6CrossRefGoogle Scholar
  12. 12.
    De Wals P et al (2007) Reduction in neural tube defects after folic acid fortification in Canada. N Engl J Med 357:135–42PubMedCrossRefGoogle Scholar
  13. 13.
    Dolk H (2005) EUROCAT:25 years of European surveillance of congenital anomalies. Arch Dis Child 90:F355–8CrossRefGoogle Scholar
  14. 14.
    Dolk H and EUROCAT Project Management Committee (2009) What is the primary prevention of congenital anomalies? Lancet 374:378Google Scholar
  15. 15.
    Dolk H, Loane M, Garne E, de Walle, H, Queisser-LuftA, de Vigan C, Addor M-C, Gener B, Haeusler M, Jordan H, Tucker D, Stoll C, Feijoo M, Lillis D, Bianchi F (2005a) Trends and geographic inequalities in the livebirth prevalence of Down Syndrome in Europe 1980–1999. Revues Epidem Sante Publique 53:2S87–2S95Google Scholar
  16. 16.
    Dolk H, Vrijheid, Scott JES, Addor MC, Botting B, de Vigan C, de Walle H, Garne E, Loane M, Pierini A, Garcia-Minaur S, Physick N, Tenconi R, Wiesel A, Calzolari E, Stone D (2004) Towards the effective surveillance of hypospadias. Environ Health Perspect 112(3):398–402PubMedCrossRefGoogle Scholar
  17. 17.
    ESCO 2009. ESCO Report on Analysis of Risks and Benefits of Fortification of Food with Folic Acid. European Food Safety Authority 2009. http://www.efsa.europa.eu/en/scdocs/doc/sco_esco_wg_folic_acid_report_en.pdf
  18. 18.
    EUGLOREH 2007 (2009) Chapter 9.1.2 Congenital malformations. In: The Status of Health in the European Union: Towards a Healthier Europe, EU Public Health Programme Project, Global Report on the Health Status in the European Union [http://www.eugloreh.it/ActionPagina_993.do]
  19. 19.
  20. 20.
    EUROCAT Working Group (2009). EUROCAT Special Report: Congenital Heart Defects in Europe 2000–2005. [http://www.eurocat-network.eu/content/Special-Report-CHD.pdf]
  21. 21.
    EUROCAT (2009c). EUROCAT Statistical Monitoring Report – 2006. http://www.eurocat-network.eu/CLUSTERSAndTRENDS/StatisticalMonitoring/StatisticalMonitoring-2006
  22. 22.
    EUROCAT (2008) EUROCAT Statistical Monitoring Protocol. http://www.eurocat-network.eu/content/Stat-Mon-Protocol-(April-2008)-2006.pdf
  23. 23.
    EUROCAT (2006) Using capture–recapture methods to ascertain the completeness of a register, 2nd edn. http://www.eurocat-network.eu/content/Special-Report-Capture-Recapture.pdf
  24. 24.
    EUROCAT (2005a) EUROCAT Guide 1.3: Instruction for the registration of congenital anomalies. EUROCAT Central Registry, University of Ulster [http://www.eurocat-network.eu/ABOUTUS/DataCollection/GuidelinesforRegistration/Guide1_3InstructionManual
  25. 25.
    EUROCAT (2005b) EUROCAT Special Report: Prenatal screening policies in Europe. EUROCAT Central Registry, University of Ulster [http://www.eurocat-network.eu/content/Special-Report-Prenatal-Diagnosis.pdf]
  26. 26.
    EUROCAT (2005c) EUROCAT Special Report: Prevention of neural tube defects by periconceptional folic acid supplementation in Europe. EUROCAT Central Registry, University of Ulster [http://www.eurocat-network.eu/PREVENTIONAndRISKFACTORS/FolicAcid/FolicAcidSpecialReports]
  27. 27.
    EUROCAT (2002) EUROCAT Special Report: EUROCAT and orofacial clefts: the epidemiology of orofacial clefts in 30 European regions. EUROCAT Central Registry, University of Ulster; University of Ferrara, Italy and the CNR Institute of Clinical Physiology, Pisa, Italy [http://www.eurocat-network.eu/content/Special-Report-Orofacial-Clefts.pdf]
  28. 28.
    EUROCAT Working Group (1991) Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis, 1980–1986. J Epidemiol Commun Health 45(1):52–58CrossRefGoogle Scholar
  29. 29.
    EURO-PERISTAT Project, with SCPE, EUROCAT, EURONEOSTAT, (2008) European Perinatal Health Report.  Chapter 9: Congenital Anomalies: EUROCAT. Available: http://www.europeristat.com
  30. 30.
    Fraser FC (1976) The multifactorial threshold concept – uses and misuses. Teratology 14:267–280PubMedCrossRefGoogle Scholar
  31. 31.
    Garne E, Loane M, Dolk H, de Vigan C, Scarano G, Tucker D, Stoll C et al (2005) Prenatal diagnosis of congenital malformations in Europe. Ultrasound Obstet Gynecol 25:6–11PubMedCrossRefGoogle Scholar
  32. 32.
    Garne E, Loane M, de Vigan C et al (2004) Prenatal diagnostic procedures in pregnancies with congenital malformations in 14 regions of Europe. Prenat Diagn 24:908–12PubMedCrossRefGoogle Scholar
  33. 33.
    Garne E, Loane M, Wellesley D, Barisic I and a EUROCAT Working Group (2009) Congenital Hydronephrosis: Prenatal Diagnosis and Epidemiology in Europe. J Pediatr Urol 5:47–52PubMedCrossRefGoogle Scholar
  34. 34.
    Hansen M, Bower C, Milne E, de Klerk N and Kurinczuk JJ (2005) Assisted reproductive technologies and the risk of birth defects – a systematic review. Hum Reprod 20:328–38PubMedCrossRefGoogle Scholar
  35. 35.
    Jenkins KJ, Correa A, Feinstein JA et al (2007). Non-inherited risk factors and congenital cardioavascular defects: current knowledge. Circulation 115:2995–3014PubMedCrossRefGoogle Scholar
  36. 36.
    Loane M, Dolk H, Bradbury and a EUROCAT Working Group (2007) Increasing prevalence of gastroschisis in Europe 1980–2002: A phenomenon restricted to younger mothers? Paediatr Perinatal Epidemiol 21:363–369CrossRefGoogle Scholar
  37. 37.
    MRC Vitamin Study Research Group (1991) Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338:131–7CrossRefGoogle Scholar
  38. 38.
    Torfs CP, Christianson RE (1999) Maternal risk factors and major associated defects in infants with Down Syndrome. Epidemiology 10:264–70PubMedCrossRefGoogle Scholar
  39. 39.
    Vrijheid M (2000) Health effects of residence near hazardous waste landfill sites: a review of epidemiological literature. Environ Health Perspect Suppl 108(Suppl 1), 101–112Google Scholar
  40. 40.
    Wellesley D, Boyd P, Dolk H, Pattenden S (2005) An aetiological classification of birth defects for epidemiological research. J Med Genet 42(1), 54–7PubMedCrossRefGoogle Scholar

Copyright information

© Springer Netherlands 2010

Authors and Affiliations

  1. 1.EUROCAT Central Registry, Faculty of Life and Health SciencesUniversity of UlsterNewtownabbeyUK
  2. 2.Hospital LillabaeltKoldingDenmark

Personalised recommendations