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Meta-Analysis
. 2022 Mar 29;17(1):142.
doi: 10.1186/s13023-022-02292-y.

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

Alessio Coi  1 , Michele Santoro  2 , Anna Pierini  2   3 , Judith Rankin  4 , Svetlana V Glinianaia  4 , Joachim Tan  5 , Abigail-Kate Reid  5 , Ester Garne  6 , Maria Loane  7 , Joanne Given  7 , Elisa Ballardini  8 , Clara Cavero-Carbonell  9 , Hermien E K de Walle  10 , Miriam Gatt  11 , Laura García-Villodre  9 , Mika Gissler  12 , Sue Jordan  13 , Sonja Kiuru-Kuhlefelt  12 , Stine Kjaer Urhoj  6   14 , Kari Klungsøyr  15   16 , Nathalie Lelong  17 , L Renée Lutke  10 , Amanda J Neville  18 , Makan Rahshenas  17 , Ieuan Scanlon  13 , Diana Wellesley  19 , Joan K Morris  5
Affiliations
Meta-Analysis

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

Alessio Coi et al. Orphanet J Rare Dis. .

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.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Proportion of deaths at 1 week (1 w) of age, between 1 and 4 weeks (4 w), between 4 weeks and 1 year (1 y), between 1 and 5 years (5 y), and between 5 and 10 years (10 y) for the rare structural congenital anomalies sorted according to decreasing proportion of deaths at 1 week of age and showed by group
Fig. 2
Fig. 2
Five-year survival estimates (with 95% Confidence Intervals (CI)) by registry (birth year period: 1995–2014) and the I2 statistic as a measure of the observed between-registry heterogeneity calculated by a random effect meta-analysis on eight rare CAs with at least 500 liveborn cases. d = days; w = week, m = months, y = years
See this image and copyright information in PMC

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