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 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.

Trends in survival of children with severe congenital heart defects by gestational age at birth: A population‐based study using administrative hospital data for England

“… 10 , 11 , 43 , 44 Few long‐term follow‐up studies exist. 45 Population‐based and registry‐based studies have the advantage of longer follow‐up and larger sample sizes, and have been used to assess trends in survival for children with CHD overall, but most have not disaggregated by GA. 14 , 23 , 46 , 47 , 48 , 49 One exception is a study which used population‐based registry data from northern England to explore trends in survival to age five in children with CHD by GA from 1985 to 2003. 50 Our work assesses trends in survival in England from 2004 onward.…”

Temporal and geographical variations in survival of children born with congenital anomalies in Europe: A multi‐registry cohort study

“…However, if survival in children with a specific CA is analysed, the numbers of children from each registry are so small that sampling error limits the interpretation of any differences between registries). More precise survival estimates of individual CAs, even if rare, can be calculated pooling data from different registries using a meta‐analytical approach as performed in studies of the EUROlinkCAT project 33,34 . Therefore, the purpose of this study was to examine potential sources of bias in sufficiently large samples, to establish recommendations for future meta‐analyses across registries.…”

“…More precise survival estimates of individual CAs, even if rare, can be calculated pooling data from different registries using a meta‐analytical approach as performed in studies of the EUROlinkCAT project. 33 , 34 Therefore, the purpose of this study was to examine potential sources of bias in sufficiently large samples, to establish recommendations for future meta‐analyses across registries.…”

Survival, hospitalisation and surgery in children born with Pierre Robin sequence: a European population-based cohort study

“…For the investigation of survival rates, data on mortality were obtained through linkage with vital statistics and mortality databases. A detailed description of the methods has been published elsewhere 14–16…”