Article Text
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.
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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.
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.
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