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Original article
Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data
  1. Breidge Boyle1,2,
  2. Marie-Claude Addor3,
  3. Larraitz Arriola4,
  4. Ingeborg Barisic5,
  5. Fabrizio Bianchi6,
  6. Melinda Csáky-Szunyogh7,
  7. Hermien E K de Walle8,
  8. Carlos Matias Dias9,
  9. Elizabeth Draper10,
  10. Miriam Gatt11,
  11. Ester Garne12,
  12. Martin Haeusler13,
  13. Karin Källén14,
  14. Anna Latos-Bielenska15,
  15. Bob McDonnell16,
  16. Carmel Mullaney17,
  17. Vera Nelen18,
  18. Amanda J Neville19,
  19. Mary O’Mahony20,
  20. Annette Queisser-Wahrendorf21,
  21. Hanitra Randrianaivo22,
  22. Judith Rankin23,
  23. Anke Rissmann24,
  24. Annukka Ritvanen25,
  25. Catherine Rounding26,
  26. David Tucker27,
  27. Christine Verellen-Dumoulin28,
  28. Diana Wellesley29,
  29. Ben Wreyford30,
  30. Natalia Zymak-Zakutnia31,
  31. Helen Dolk1
  1. 1 EUROCAT: WHO Collaborating Centre for the Surveillance of Congenital Anomalies, University of Ulster, Coleraine, UK
  2. 2 School of Nursing and Midwifery, Queens University Belfast, Belfast, UK
  3. 3 Division of Medical Genetics, CHUV, Lausanne, Switzerland
  4. 4 Registro Anomalías Congénitas CAV Subdirección de Salud Pública Av Navarra, San Sebastian, Spain
  5. 5 Children’s Hospital Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia
  6. 6 CNR Institute of Clinical Physiology, Via Moruzzi, Pisa, Italy
  7. 7 Hungarian Congenital Abnormality Registry, National Public Health and Medical Officer Service, Budapest, Hungary
  8. 8 Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
  9. 9 Departamento de Epidemiologia, Registo Nacional de Anomalias Congénitas Av Padre Cruz, Lisbon, Portugal
  10. 10 Department of Epidemiology Public Health, East Midlands & South Yorkshire (EMSYCAR), University of Leicester, Leicester, UK
  11. 11 Department of Health Information and Research, Guardamangia, Malta
  12. 12 Department of Paediatric, Hospital Lillebaelt, Kolding, Denmark
  13. 13 Department of Obstetrics and Gynecology, Medical University of Graz, Graz, Austria
  14. 14 Swedish National Board of Health and Welfare and Department of Reproduction Epidemiology, Institution of Clinical Sciences, University of Lund, Lund, Sweden
  15. 15 Department of Medical Genetics, University of Medical Sciences, Poznan, Poland
  16. 16 Health Service Executive, Dublin, Ireland
  17. 17 Health Service Executive, Kilkenny, Ireland
  18. 18 Department of Environment, PIH, Province of Antwerp, Antwerp, Belgium
  19. 19 Azienda Ospedaliero-Universitaria di Ferrara Corso Giovecca, Ferrara, Italy
  20. 20 Health Service Executive, Cork, Ireland
  21. 21 Birth Registry Mainz Model, Children’s Hospital University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
  22. 22 Register of Reunion Island, Centre Hospitalo-Universitaire, St Pierre La Reunion, Reunion, UK
  23. 23 Institute of Health and Society, Newcastle University, Newcastle, UK
  24. 24 Malformation Monitoring Centre, Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany
  25. 25 National Institute for Welfare and Health (THL), Helsinki, Finland
  26. 26 National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK
  27. 27 Public Health Wales, Congenital Anomaly Register and Information Service for Wales (CARIS), Swansea, UK
  28. 28 Centre de Génétique Humaine IPG Institut de Pathologie et de Génétique Avenue G Lemaître, Charleroi, Belgium
  29. 29 Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, Southampton, UK
  30. 30 School of Clinical Sciences, University of Bristol, Bristol, UK
  31. 31 Khmelnytsky Perinatal Center, OMNI-Net Ukraine Birth Defects Program, Khmelnytsky, Ukraine
  1. Correspondence to Professor Helen Dolk, WHO Collaborating Centre for the Epidemiologic Surveillance of Congenital Anomalies, Centre for Maternal, Fetal and Infant Research, Institute of Nursing and Health Research, Ulster University, Shore Road, Newtownabbey BT37 0QB, UK; h.dolk{at}ulster.ac.uk

Abstract

Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.

Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status.

Results According to WHO, 17%–42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly.

Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention.

  • Congenital anomaly
  • mortality
  • Global Burden of Disease
  • YLL
  • DALY

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/archdischild-2016-311845

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    Footnotes

    • Contributors HD and BB defined the research question, designed the study and interpreted the analysis. BB and HD co-wrote the paper. BB prepared and analysed the data. M-CA, LA, IB, FB, MC-S, HEKdW, CMD, ED, MG, EG, MH, KK, AL-B, BM, CM, VN, AJN, MO, AQ-W, HR, JR, AnkR, AnnR, CR, DT, CV-D, DW, BW and NZ-Z provided data and commented on drafts.

    • Funding Executive Agency for Health and Consumers Grant Agreement: 2013 3307 UU (OG).

    • Competing interests None declared.

    • Ethics approval Ethical approval has been granted for the collection of these data.

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

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