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Survival of children with rare structural congenital anomalies: a multi-registry cohort study

Alessio Coi Orcid Logo, 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 Orcid Logo, 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

Orphanet Journal of Rare Diseases, Volume: 17, Issue: 1

Swansea University Authors: Sue Jordan Orcid Logo, Ieuan Scanlon

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DOI (Published version): 10.1186/s13023-022-02292-y

Abstract

BackgroundCongenital 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 co...

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Published in: Orphanet Journal of Rare Diseases
ISSN: 1750-1172
Published: Springer Science and Business Media LLC 2022
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URI: https://cronfa.swan.ac.uk/Record/cronfa60079
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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&#x2013;2014 in Western Europe.MethodsLive 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.ResultsAmongst the investigated CAs, arhinencephaly/holoprosencephaly had the lowest survival at all ages (58.1%, 95% Confidence Interval (CI): 44.3&#x2013;76.2% at 1 week; 47.4%, CI: 36.4&#x2013;61.6% at 1 year; 35.6%, CI: 22.2&#x2013;56.9% at 10 years). Overall, children with rare CAs of the digestive system had the highest survival (&gt;&#x2009;95% at 1 week,&#x2009;&gt;&#x2009;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.ConclusionsPooling 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.</abstract><type>Journal Article</type><journal>Orphanet Journal of Rare Diseases</journal><volume>17</volume><journalNumber>1</journalNumber><paginationStart/><paginationEnd/><publisher>Springer Science and Business Media LLC</publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint/><issnElectronic>1750-1172</issnElectronic><keywords/><publishedDay>29</publishedDay><publishedMonth>3</publishedMonth><publishedYear>2022</publishedYear><publishedDate>2022-03-29</publishedDate><doi>10.1186/s13023-022-02292-y</doi><url/><notes/><college>COLLEGE NANME</college><department>Health and Social Care School</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>HSOC</DepartmentCode><institution>Swansea University</institution><apcterm/><funders>This project has received funding from the European Union&#x2019;s Horizon 2020 research and innovation programme under Grant Agreement No. 733001 (Jan 2017&#x2013;May 2022) https://ec.europa.eu/programmes/horizon2020/en).</funders><lastEdited>2022-06-23T10:39:40.2403885</lastEdited><Created>2022-05-24T20:33:31.5593344</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">School of Health and Social Care - Nursing</level></path><authors><author><firstname>Alessio</firstname><surname>Coi</surname><orcid>0000-0002-9816-3144</orcid><order>1</order></author><author><firstname>Michele</firstname><surname>Santoro</surname><order>2</order></author><author><firstname>Anna</firstname><surname>Pierini</surname><order>3</order></author><author><firstname>Judith</firstname><surname>Rankin</surname><order>4</order></author><author><firstname>Svetlana V.</firstname><surname>Glinianaia</surname><order>5</order></author><author><firstname>Joachim</firstname><surname>Tan</surname><order>6</order></author><author><firstname>Abigail-Kate</firstname><surname>Reid</surname><order>7</order></author><author><firstname>Ester</firstname><surname>Garne</surname><order>8</order></author><author><firstname>Maria</firstname><surname>Loane</surname><order>9</order></author><author><firstname>Joanne</firstname><surname>Given</surname><order>10</order></author><author><firstname>Elisa</firstname><surname>Ballardini</surname><order>11</order></author><author><firstname>Clara</firstname><surname>Cavero-Carbonell</surname><order>12</order></author><author><firstname>Hermien E. K. de</firstname><surname>Walle</surname><order>13</order></author><author><firstname>Miriam</firstname><surname>Gatt</surname><order>14</order></author><author><firstname>Laura</firstname><surname>Garc&#xED;a-Villodre</surname><order>15</order></author><author><firstname>Mika</firstname><surname>Gissler</surname><order>16</order></author><author><firstname>Sue</firstname><surname>Jordan</surname><orcid>0000-0002-5691-2987</orcid><order>17</order></author><author><firstname>Sonja</firstname><surname>Kiuru-Kuhlefelt</surname><order>18</order></author><author><firstname>Stine Kjaer</firstname><surname>Urhoj</surname><order>19</order></author><author><firstname>Kari</firstname><surname>Klungs&#xF8;yr</surname><order>20</order></author><author><firstname>Nathalie</firstname><surname>Lelong</surname><order>21</order></author><author><firstname>L. Ren&#xE9;e</firstname><surname>Lutke</surname><order>22</order></author><author><firstname>Amanda J.</firstname><surname>Neville</surname><order>23</order></author><author><firstname>Makan</firstname><surname>Rahshenas</surname><order>24</order></author><author><firstname>Ieuan</firstname><surname>Scanlon</surname><order>25</order></author><author><firstname>Diana</firstname><surname>Wellesley</surname><order>26</order></author><author><firstname>Joan K.</firstname><surname>Morris</surname><order>27</order></author></authors><documents><document><filename>60079__24375__83f8042a004b4667afbc9ea6b00757dc.pdf</filename><originalFilename>60079.pdf</originalFilename><uploaded>2022-06-23T10:38:17.6869939</uploaded><type>Output</type><contentLength>1834720</contentLength><contentType>application/pdf</contentType><version>Version of Record</version><cronfaStatus>true</cronfaStatus><documentNotes>&#xA9; The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language><licence>http://creativecommons.org/licenses/by/4.0/</licence></document></documents><OutputDurs/></rfc1807>
spelling 2022-06-23T10:39:40.2403885 v2 60079 2022-05-24 Survival of children with rare structural congenital anomalies: a multi-registry cohort study 24ce9db29b4bde1af4e83b388aae0ea1 0000-0002-5691-2987 Sue Jordan Sue Jordan true false 9fcb224c6bd804a4d41a2a8570a71185 Ieuan Scanlon Ieuan Scanlon true false 2022-05-24 HSOC BackgroundCongenital 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.MethodsLive 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.ResultsAmongst 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.ConclusionsPooling 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. Journal Article Orphanet Journal of Rare Diseases 17 1 Springer Science and Business Media LLC 1750-1172 29 3 2022 2022-03-29 10.1186/s13023-022-02292-y COLLEGE NANME Health and Social Care School COLLEGE CODE HSOC Swansea University This project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 733001 (Jan 2017–May 2022) https://ec.europa.eu/programmes/horizon2020/en). 2022-06-23T10:39:40.2403885 2022-05-24T20:33:31.5593344 Faculty of Medicine, Health and Life Sciences School of Health and Social Care - Nursing Alessio Coi 0000-0002-9816-3144 1 Michele Santoro 2 Anna Pierini 3 Judith Rankin 4 Svetlana V. Glinianaia 5 Joachim Tan 6 Abigail-Kate Reid 7 Ester Garne 8 Maria Loane 9 Joanne Given 10 Elisa Ballardini 11 Clara Cavero-Carbonell 12 Hermien E. K. de Walle 13 Miriam Gatt 14 Laura García-Villodre 15 Mika Gissler 16 Sue Jordan 0000-0002-5691-2987 17 Sonja Kiuru-Kuhlefelt 18 Stine Kjaer Urhoj 19 Kari Klungsøyr 20 Nathalie Lelong 21 L. Renée Lutke 22 Amanda J. Neville 23 Makan Rahshenas 24 Ieuan Scanlon 25 Diana Wellesley 26 Joan K. Morris 27 60079__24375__83f8042a004b4667afbc9ea6b00757dc.pdf 60079.pdf 2022-06-23T10:38:17.6869939 Output 1834720 application/pdf Version of Record true © The Author(s) 2022. This article is licensed under a Creative Commons Attribution 4.0 International License true eng http://creativecommons.org/licenses/by/4.0/
title Survival of children with rare structural congenital anomalies: a multi-registry cohort study
spellingShingle Survival of children with rare structural congenital anomalies: a multi-registry cohort study
Sue Jordan
Ieuan Scanlon
title_short 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_sort Survival of children with rare structural congenital anomalies: a multi-registry cohort study
author_id_str_mv 24ce9db29b4bde1af4e83b388aae0ea1
9fcb224c6bd804a4d41a2a8570a71185
author_id_fullname_str_mv 24ce9db29b4bde1af4e83b388aae0ea1_***_Sue Jordan
9fcb224c6bd804a4d41a2a8570a71185_***_Ieuan Scanlon
author Sue Jordan
Ieuan Scanlon
author2 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
format Journal article
container_title Orphanet Journal of Rare Diseases
container_volume 17
container_issue 1
publishDate 2022
institution Swansea University
issn 1750-1172
doi_str_mv 10.1186/s13023-022-02292-y
publisher Springer Science and Business Media LLC
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str School of Health and Social Care - Nursing{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}School of Health and Social Care - Nursing
document_store_str 1
active_str 0
description BackgroundCongenital 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.MethodsLive 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.ResultsAmongst 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.ConclusionsPooling 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.
published_date 2022-03-29T02:28:26Z
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score 11.04748

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