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Survival of children with rare structural congenital anomalies: a multi-registry cohort study
Alessio Coi1, Michele Santoro2, Anna Pierini2,3
1Unit 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.
Insights
Survival for children with rare congenital anomalies (CAs) varies significantly, with digestive system CAs showing high survival rates and arhinencephaly/holoprosencephaly having the lowest. Most deaths occur early, with over 95% survival at 10 years for many CAs if they survive the first month.
Area of Science:
- Pediatric Epidemiology
- Public Health
- Genetics
Background:
- Congenital anomalies (CAs) are a major cause of infant mortality in developed nations.
- Long-term survival studies for rare CAs are challenging due to data limitations.
- This study focuses on survival up to 10 years for rare structural CAs in Western Europe.
Purpose of the Study:
- To investigate the 10-year survival rates of children with rare structural congenital anomalies.
- To provide reliable survival estimates for clinical practice and parental counseling.
- To analyze survival data from a large European cohort.
Main Methods:
- Utilized data from 13 EUROCAT population-based registries across Western Europe.
- Linked live birth records of 12,685 infants with rare CAs to mortality data.
- Employed random effects meta-analyses to estimate survival at multiple time points (1 week, 4 weeks, 1, 5, and 10 years).
Main Results:
- Arhinencephaly/holoprosencephaly exhibited the lowest survival rates across all age points.
- Children with rare CAs of the digestive system demonstrated the highest survival rates (>95% at 1 week, >84% at 10 years).
- A significant proportion of deaths occurred within the first four weeks of life; 10-year survival conditional on surviving 4 weeks exceeded 95% for 17 out of 31 rare CAs.
Conclusions:
- Pooling data from multiple European registries provides robust survival estimates for rare CAs.
- Survival estimates are valuable for informing clinical decisions and supporting families.
- Observed moderate variability in survival rates between different European registries for specific rare CAs.
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.
