Evidence map›Paper›PMID 35351164›Full record

SynthesisOrphanet journal of rare diseases2022

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

Alessio Coi, Michele Santoro, Anna Pierini, Judith Rankin, Svetlana V Glinianaia, Joachim Tan, Abigail-Kate Reid, Ester Garne, Maria Loane, Joanne Given and 17 more

Open access · goldAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
3.9field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Surgeon Perspectives on Cleft Lip and Palate Repair in Patients With Life-Limiting and Terminal Illnesses: An ACPA Member Survey.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026
    Article
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  9. A Narrative Review of Patient-Reported Outcome Measures and Their Application in Recent Pediatric Surgical Research: Advancing Knowledge and Offering New Perspectives to the Field.European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie · 2024
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 15 institutions in 9 countries.

Alessio CoiUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy. alessio.coi@ifc.cnr.it.ORCID 0000-0002-9816-3144
Michele SantoroUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy.
Anna PieriniUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy.
Judith RankinPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Svetlana V GlinianaiaPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Joachim TanPopulation Health Research Institute, St George's University of London, London, UK.
Abigail-Kate ReidPopulation Health Research Institute, St George's University of London, London, UK.
Ester GarnePaediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Maria LoaneFaculty of Life and Health Sciences, Ulster University, Belfast, Northern Ireland, UK.
Joanne GivenFaculty of Life and Health Sciences, Ulster University, Belfast, Northern Ireland, UK.
Elisa BallardiniNeonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects), Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Clara Cavero-CarbonellRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.
Hermien E K de WalleDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Miriam GattMalta Congenital Anomalies Register, Directorate of Health Information and Research, Pieta, Malta.
Laura García-VillodreRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.
Mika GisslerInformation Services Department, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
Sue JordanFaculty of Medicine, Health and Life Science, Swansea University, Swansea, Wales, UK.
Sonja Kiuru-KuhlefeltInformation Services Department, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
Stine Kjaer UrhojPaediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Kari KlungsøyrDepartment of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Nathalie LelongCenter of Research in Epidemiology and StatisticS/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Université de Paris, Paris, France.
L Renée LutkeDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Amanda J NevilleIMER Registry (Emila Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara Azienda Ospedaliero- Universitaria di Ferrara, Ferrara, Italy.
Makan RahshenasCenter of Research in Epidemiology and StatisticS/CRESS/Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Université de Paris, Paris, France.
Ieuan ScanlonFaculty of Medicine, Health and Life Science, Swansea University, Swansea, Wales, UK.
Diana WellesleyWessex Clinical Genetics Service, Princess Anne Hospital, Faculty of Medicine, University Hospital Southampton, Southampton, UK.
Joan K MorrisPopulation Health Research Institute, St George's University of London, London, UK.
Istituto di Fisiologia Clinica · ITSt George's, University of London · GBFinnish Institute for Health and Welfare · FIFundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana · ESInserm · FRNewcastle University · GBSwansea University · GBUniversity Medical Center Groningen · NLUniversity of Ferrara · ITUniversity of Ulster · GBLillebaelt Hospital · DKMinistry for Health · MTNorwegian Institute of Public Health · NOPrincess Anne Hospital · GBUniversity of Copenhagen · DK

Funding

Medical Research Council MR/K02325X/1
6 · The paper itself

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 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.

Indexed as

Cohort StudiesChildEuropeFemaleHumansInfantInfant, NewbornPregnancyRegistries

Identifiers

PMID35351164
PMCPMC8966236
OpenAlexW4220782424

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.