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Original research
Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study
  1. Svetlana V Glinianaia1,
  2. Judith Rankin1,
  3. Joachim Tan2,
  4. Maria Loane3,
  5. Ester Garne4,
  6. Clara Cavero-Carbonell5,
  7. Hermien E K de Walle6,
  8. Miriam Gatt7,
  9. Mika Gissler8,9,
  10. Kari Klungsøyr10,11,
  11. Natalie Lelong12,
  12. Amanda Neville13,
  13. Anna Pierini14,
  14. David F Tucker15,
  15. Stine Kjaer Urhoj4,16,
  16. Diana Gay Wellesley17,
  17. Joan K Morris2
  1. 1 Newcastle University Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK
  2. 2 Population Health Research Institute, St George's University of London, London, UK
  3. 3 Centre for Maternal, Fetal and Infant Research, Faculty of Life and Health Sciences, Ulster University, Belfast, UK
  4. 4 Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital – University Hospital of Southern Denmark, Kolding, Denmark
  5. 5 Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, FISABIO, Valencia, Spain
  6. 6 University Medical Centre Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands
  7. 7 Malta Congenital Anomalies Registry, Directorate for Health Information and Research, Tal-Pietà, Malta
  8. 8 Department of Knowledge Brokers, Finnish Institute for Health and Welfare, Helsinki, Finland
  9. 9 Academic Primary Health Care Centre, Stockholm, Region Stockholm, Sweden
  10. 10 Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway
  11. 11 Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway
  12. 12 Université de Paris Cité, Obstetrical, Perinatal and Paediatric Epidemiology Research Team (EPOPé), CRESS, INSERM, Paris, France
  13. 13 IMER Registry (Emilia Romagna Registry of Birth Defects), Centre for Clinical and Epidemiological Research, University of Ferrara, Ferrara, Emilia-Romagna, Italy
  14. 14 Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Toscana, Italy
  15. 15 Public Health Wales, Public Health Knowledge and Research, Swansea, Wales, UK
  16. 16 Section of Epidemiology, Department of Public Health, University of Copenhagen, Copenhagen, Denmark
  17. 17 Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
  1. Correspondence to Dr Svetlana V Glinianaia, Population Health Sciences Institute, Newcastle University Faculty of Medical Sciences, Newcastle upon Tyne, UK; svetlana.glinianaia{at}ncl.ac.uk

Abstract

Objective To investigate the survival to 10 years of age of children with trisomy 13 (T13) and children with trisomy 18 (T18), born 1995–2014.

Design Population-based cohort study that linked mortality data to data on children born with T13 or T18, including translocations and mosaicisms, from 13 member registries of EUROCAT, a European network for the surveillance of congenital anomalies.

Setting 13 regions in nine Western European countries.

Patients 252 live births with T13 and 602 with T18.

Main outcome measures Survival at 1 week, 4 weeks and 1, 5 and 10 years of age estimated by random-effects meta-analyses of registry-specific Kaplan-Meier survival estimates.

Results Survival estimates of children with T13 were 34% (95% CI 26% to 46%), 17% (95% CI 11% to 29%) and 11% (95% CI 6% to 18%) at 4 weeks, 1 and 10 years, respectively. The corresponding survival estimates were 38% (95% CI 31% to 45%), 13% (95% CI 10% to 17%) and 8% (95% CI 5% to 13%) for children with T18. The 10-year survival conditional on surviving to 4 weeks was 32% (95% CI 23% to 41%) and 21% (95% CI 15% to 28%) for children with T13 and T18, respectively.

Conclusions This multi-registry European study found that despite extremely high neonatal mortality in children with T13 and T18, 32% and 21%, respectively, of those who survived to 4 weeks were likely to survive to age 10 years. These reliable survival estimates are useful to inform counselling of parents after prenatal diagnosis.

  • Child Health
  • Epidemiology
  • Genetics
  • Mortality
  • Syndrome

Data availability statement

Data are available on reasonable request. The data that support the findings of this study are available from the contributing registries of congenital anomalies but restrictions apply to the availability of these data, which were used under license for the current study, and so are not publicly available. Limited data are however available from the authors for scientifically valid requests and with permission of the contributing registries. To apply for the data please complete the data request form available on https://www.eurolinkcat.eu/contactinformationanddatarequests. The survival results for various congenital anomalies can be explored using EUROlinkCAT Results Explorer on the website: http://www.EUROlinkCAT.eu/eurolinkcatresultsexplorer.

https://doi.org/10.1136/archdischild-2022-325068

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    Data availability statement

    Data are available on reasonable request. The data that support the findings of this study are available from the contributing registries of congenital anomalies but restrictions apply to the availability of these data, which were used under license for the current study, and so are not publicly available. Limited data are however available from the authors for scientifically valid requests and with permission of the contributing registries. To apply for the data please complete the data request form available on https://www.eurolinkcat.eu/contactinformationanddatarequests. The survival results for various congenital anomalies can be explored using EUROlinkCAT Results Explorer on the website: http://www.EUROlinkCAT.eu/eurolinkcatresultsexplorer.

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    Footnotes

    • Contributors SVG, JR and JKM had full access to all data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. JKM is the guarantor of the study. SVG, JKM and JR contributed to the study concept and design, development of statistical analysis plan and statistical analysis. JT contributed to the development of statistical analysis plan, wrote analysis programs under supervision by JKM and contributed to statistical analysis. SVG drafted the manuscript and modified it after critical revision for important intellectual content and comments by JR, JKM, JT, ML, EG, CC-C, HEKdW, MGa, MGi, KK, NL, AN, AP, DFT, SKU and DGW. JR, ML, EG, CC-C, HEKdW, MGa, MGi, KK, NL, AN, AP, DT, SKU and DGW contributed to data acquisition or data standardisation and interpretation of the results.

    • Funding The European Union’s Horizon 2020 research and innovation programme under grant agreement No. 733 001 (January 2017–May 2022) https://ec.europa.eu/programmes/horizon2020/en).

    • Competing interests None declared.

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

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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