Survival of children with rare structural congenital anomalies: a multi-registry cohort study
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 stand...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-03-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | https://doi.org/10.1186/s13023-022-02292-y |
| _version_ | 1818645100540985344 |
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| author | Alessio Coi Michele Santoro Anna Pierini Judith Rankin Svetlana V. Glinianaia Joachim Tan Abigail-Kate Reid Ester Garne Maria Loane Joanne Given Elisa Ballardini Clara Cavero-Carbonell Hermien E. K. de Walle Miriam Gatt Laura García-Villodre Mika Gissler Sue Jordan Sonja Kiuru-Kuhlefelt Stine Kjaer Urhoj Kari Klungsøyr Nathalie Lelong L. Renée Lutke Amanda J. Neville Makan Rahshenas Ieuan Scanlon Diana Wellesley Joan K. Morris |
| author_facet | Alessio Coi Michele Santoro Anna Pierini Judith Rankin Svetlana V. Glinianaia Joachim Tan Abigail-Kate Reid Ester Garne Maria Loane Joanne Given Elisa Ballardini Clara Cavero-Carbonell Hermien E. K. de Walle Miriam Gatt Laura García-Villodre Mika Gissler Sue Jordan Sonja Kiuru-Kuhlefelt Stine Kjaer Urhoj Kari Klungsøyr Nathalie Lelong L. Renée Lutke Amanda J. Neville Makan Rahshenas Ieuan Scanlon Diana Wellesley Joan K. Morris |
| author_sort | Alessio Coi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T00:25:23Z |
| format | Article |
| id | doaj.art-dd08c0e1b5574f08bdb9c7543519f4b7 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-17T00:25:23Z |
| publishDate | 2022-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-dd08c0e1b5574f08bdb9c7543519f4b72022-12-21T22:10:28ZengBMCOrphanet Journal of Rare Diseases1750-11722022-03-0117111110.1186/s13023-022-02292-ySurvival of children with rare structural congenital anomalies: a multi-registry cohort studyAlessio Coi0Michele Santoro1Anna Pierini2Judith Rankin3Svetlana V. Glinianaia4Joachim Tan5Abigail-Kate Reid6Ester Garne7Maria Loane8Joanne Given9Elisa Ballardini10Clara Cavero-Carbonell11Hermien E. K. de Walle12Miriam Gatt13Laura García-Villodre14Mika Gissler15Sue Jordan16Sonja Kiuru-Kuhlefelt17Stine Kjaer Urhoj18Kari Klungsøyr19Nathalie Lelong20L. Renée Lutke21Amanda J. Neville22Makan Rahshenas23Ieuan Scanlon24Diana Wellesley25Joan K. Morris26Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research CouncilUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research CouncilUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research CouncilPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle UniversityPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle UniversityPopulation Health Research Institute, St George’s University of LondonPopulation Health Research Institute, St George’s University of LondonPaediatric Department, Hospital LillebaeltFaculty of Life and Health Sciences, Ulster UniversityFaculty of Life and Health Sciences, Ulster UniversityNeonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects), Department of Medical Sciences, University of FerraraRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian RegionDepartment of Genetics, University Medical Center Groningen, University of GroningenMalta Congenital Anomalies Register, Directorate of Health Information and ResearchRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian RegionInformation Services Department, THL Finnish Institute for Health and WelfareFaculty of Medicine, Health and Life Science, Swansea UniversityInformation Services Department, THL Finnish Institute for Health and WelfarePaediatric Department, Hospital LillebaeltDepartment of Global Public Health and Primary Care, University of BergenCenter of Research in Epidemiology and StatisticS/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Université de ParisDepartment of Genetics, University Medical Center Groningen, University of GroningenIMER Registry (Emila Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara Azienda Ospedaliero- Universitaria di FerraraCenter of Research in Epidemiology and StatisticS/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Université de ParisFaculty of Medicine, Health and Life Science, Swansea UniversityWessex Clinical Genetics Service, Princess Anne Hospital, Faculty of Medicine, University Hospital SouthamptonPopulation Health Research Institute, St George’s University of LondonAbstract 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.https://doi.org/10.1186/s13023-022-02292-y |
| spellingShingle | Alessio Coi Michele Santoro Anna Pierini Judith Rankin Svetlana V. Glinianaia Joachim Tan Abigail-Kate Reid Ester Garne Maria Loane Joanne Given Elisa Ballardini Clara Cavero-Carbonell Hermien E. K. de Walle Miriam Gatt Laura García-Villodre Mika Gissler Sue Jordan Sonja Kiuru-Kuhlefelt Stine Kjaer Urhoj Kari Klungsøyr Nathalie Lelong L. Renée Lutke Amanda J. Neville Makan Rahshenas Ieuan Scanlon Diana Wellesley Joan K. Morris Survival of children with rare structural congenital anomalies: a multi-registry cohort study Orphanet Journal of Rare Diseases |
| title | Survival of children with rare structural congenital anomalies: a multi-registry cohort study |
| title_full | Survival of children with rare structural congenital anomalies: a multi-registry cohort study |
| title_fullStr | Survival of children with rare structural congenital anomalies: a multi-registry cohort study |
| title_full_unstemmed | Survival of children with rare structural congenital anomalies: a multi-registry cohort study |
| title_short | Survival of children with rare structural congenital anomalies: a multi-registry cohort study |
| title_sort | survival of children with rare structural congenital anomalies a multi registry cohort study |
| url | https://doi.org/10.1186/s13023-022-02292-y |
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