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Tytuł:
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Survival of children with rare structural congenital anomalies: a multi-registry cohort study.
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Autorzy:
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Coi A; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy. .
Santoro M; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy.
Pierini A; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy.; Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
Rankin J; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Glinianaia SV; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Tan J; Population Health Research Institute, St George's University of London, London, UK.
Reid AK; Population Health Research Institute, St George's University of London, London, UK.
Garne E; Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Loane M; Faculty of Life and Health Sciences, Ulster University, Belfast, Northern Ireland, UK.
Given J; Faculty of Life and Health Sciences, Ulster University, Belfast, Northern Ireland, UK.
Ballardini E; Neonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects), Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.
de Walle HEK; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Gatt M; Malta Congenital Anomalies Register, Directorate of Health Information and Research, Pieta, Malta.
García-Villodre L; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.
Gissler M; Information Services Department, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
Jordan S; Faculty of Medicine, Health and Life Science, Swansea University, Swansea, Wales, UK.
Kiuru-Kuhlefelt S; Information Services Department, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
Kjaer Urhoj S; Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.; Section of Epidemiology, Department of Public Health, University of Copenhagen, Copenhagen, Denmark.
Klungsøyr K; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Division for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.
Lelong N; Center of Research in Epidemiology and StatisticS/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Université de Paris, Paris, France.
Lutke LR; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Neville AJ; IMER Registry (Emila Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara Azienda Ospedaliero- Universitaria di Ferrara, Ferrara, Italy.
Rahshenas M; Center of Research in Epidemiology and StatisticS/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Université de Paris, Paris, France.
Scanlon I; Faculty of Medicine, Health and Life Science, Swansea University, Swansea, Wales, UK.
Wellesley D; Wessex Clinical Genetics Service, Princess Anne Hospital, Faculty of Medicine, University Hospital Southampton, Southampton, UK.
Morris JK; Population Health Research Institute, St George's University of London, London, UK.
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Źródło:
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Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 29; Vol. 17 (1), pp. 142. Date of Electronic Publication: 2022 Mar 29.
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Typ publikacji:
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Journal Article; Meta-Analysis
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Język:
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English
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Imprint Name(s):
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Original Publication: [London] : BioMed Central, 2006-
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MeSH Terms:
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Cohort Studies*
Child ; Europe/epidemiology ; Female ; Humans ; Infant ; Infant, Newborn ; Pregnancy ; Registries
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References:
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Grant Information:
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MR/K02325X/1 United Kingdom MRC_ Medical Research Council
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Entry Date(s):
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Date Created: 20220330 Date Completed: 20220405 Latest Revision: 20230322
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Update Code:
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20240104
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PubMed Central ID:
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PMC8966236
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DOI:
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10.1186/s13023-022-02292-y
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PMID:
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35351164
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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.
(© 2022. The Author(s).)
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