Coi, A;
Santoro, M;
Pierini, A;
Rankin, J;
Glinianaia, SV;
Tan, J;
Reid, A-K;
Garne, E;
Loane, M;
Given, J;
et al.
Coi, A; Santoro, M; Pierini, A; Rankin, J; Glinianaia, SV; Tan, J; Reid, A-K; Garne, E; Loane, M; Given, J; Ballardini, E; Cavero-Carbonell, C; de Walle, HEK; Gatt, M; García-Villodre, L; Gissler, M; Jordan, S; Kiuru-Kuhlefelt, S; Kjaer Urhoj, S; Klungsøyr, K; Lelong, N; Lutke, LR; Neville, AJ; Rahshenas, M; Scanlon, I; Wellesley, D; Morris, JK
(2022)
Survival of children with rare structural congenital anomalies: a multi-registry cohort study.
Orphanet Journal of Rare Diseases, 17 (1).
p. 142.
ISSN 1750-1172
https://doi.org/10.1186/s13023-022-02292-y
SGUL Authors: Tan, Joachim Wei Li
Abstract
Background
Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children with rare congenital anomalies are costly and sufficiently large standardized cohorts are difficult to obtain due to the rarity of some anomalies. This study aimed to investigate the survival up to 10 years of age of children born with a rare structural congenital anomaly in the period 1995–2014 in Western Europe.
Methods
Live births from thirteen EUROCAT (European network for the epidemiological surveillance of congenital anomalies) population-based registries were linked to mortality records. Survival for 12,685 live births with one of the 31 investigated rare structural congenital anomalies (CAs) was estimated at 1 week, 4 weeks and 1, 5 and 10 years of age within each registry and combined across Europe using random effects meta-analyses. Differences between registries were evaluated for the eight rare CAs with at least 500 live births.
Results
Amongst the investigated CAs, arhinencephaly/holoprosencephaly had the lowest survival at all ages (58.1%, 95% Confidence Interval (CI): 44.3–76.2% at 1 week; 47.4%, CI: 36.4–61.6% at 1 year; 35.6%, CI: 22.2–56.9% at 10 years). Overall, children with rare CAs of the digestive system had the highest survival (> 95% at 1 week, > 84% at 10 years). Most deaths occurred within the first four weeks of life, resulting in a 10-year survival conditional on surviving 4 weeks of over 95% for 17 out of 31 rare CAs. A moderate variability in survival between participating registries was observed for the eight selected rare CAs.
Conclusions
Pooling standardised data across 13 European CA registries and the linkage to mortality data enabled reliable survival estimates to be obtained at five ages up to ten years. Such estimates are useful for clinical practice and parental counselling.
Item Type: |
Article
|
Additional Information: |
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
Keywords: |
1199 Other Medical and Health Sciences, Genetics & Heredity |
SGUL Research Institute / Research Centre: |
Academic Structure > Population Health Research Institute (INPH) |
Journal or Publication Title: |
Orphanet Journal of Rare Diseases |
ISSN: |
1750-1172 |
Language: |
en |
Dates: |
Date | Event |
---|
December 2022 | Published | 29 March 2022 | Published Online | 14 March 2022 | Accepted |
|
Publisher License: |
Creative Commons: Attribution 4.0 |
Projects: |
Project ID | Funder | Funder ID |
---|
733001 | Horizon 2020 | UNSPECIFIED |
|
URI: |
https://openaccess.sgul.ac.uk/id/eprint/114234 |
Publisher's version: |
https://doi.org/10.1186/s13023-022-02292-y |
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