Faculty of Medical Sciences, Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
Unit of Epidemiology of Rare diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
Pediatrics. 2022 Mar 1;149(3). doi: 10.1542/peds.2021-053793.
To investigate the survival up to age 10 for children born alive with a major congenital anomaly (CA).
This population-based linked cohort study (EUROlinkCAT) linked data on live births from 2005 to 2014 from 13 European CA registries with mortality data. Pooled Kaplan-Meier survival estimates up to age 10 were calculated for these children (77 054 children with isolated structural anomalies and 4011 children with Down syndrome).
The highest mortality of children with isolated structural CAs was within infancy, with survival of 97.3% (95% confidence interval [CI]: 96.6%-98.1%) and 96.9% (95% CI: 96.0%-97.7%) at age 1 and 10, respectively. The 10-year survival exceeded 90% for the majority of specific CAs (27 of 32), with considerable variations between CAs of different severity. Survival of children with a specific isolated anomaly was higher than in all children with the same anomaly when those with associated anomalies were included. For children with Down syndrome, the 10-year survival was significantly higher for those without associated cardiac or digestive system anomalies (97.6%; 95% CI: 96.5%-98.7%) compared with children with Down syndrome associated with a cardiac anomaly (92.3%; 95% CI: 89.4%-95.3%), digestive system anomaly (92.8%; 95% CI: 87.7%-98.2%), or both (88.6%; 95% CI: 83.2%-94.3%).
Ten-year survival of children born with congenital anomalies in Western Europe from 2005 to 2014 was relatively high. Reliable information on long-term survival of children born with specific CAs is of major importance for parents of these children and for the health care professionals involved in their care.
调查患有重大先天性异常（CA）的活产儿存活至 10 岁的情况。
本研究采用基于人群的欧洲链接先天性异常登记研究（EUROlinkCAT），将 2005 年至 2014 年来自 13 个欧洲 CA 登记处的活产儿数据与死亡率数据进行了链接。对这些儿童（77054 例单纯结构性异常和 4011 例唐氏综合征）进行了汇总 Kaplan-Meier 生存估计，直至 10 岁。
单纯结构性 CA 患儿的死亡率最高在婴儿期，1 岁时的生存率为 97.3%（95%置信区间：96.6%-98.1%），10 岁时的生存率为 96.9%（95%置信区间：96.0%-97.7%）。大多数特定 CA（32 种中的 27 种）的 10 年生存率超过 90%，不同严重程度的 CA 之间存在较大差异。当包括伴有其他异常的儿童时，患有特定孤立性异常的儿童的 10 年生存率高于所有患有相同异常的儿童。对于唐氏综合征患儿，无心脏或消化系统异常的患儿 10 年生存率明显高于伴有心脏异常（92.3%；95%置信区间：89.4%-95.3%）、消化系统异常（92.8%；95%置信区间：87.7%-98.2%）或两者（88.6%；95%置信区间：83.2%-94.3%）的患儿。
2005 年至 2014 年，西欧出生的先天性异常患儿 10 年生存率相对较高。可靠的信息对于这些儿童的父母以及参与他们护理的医疗保健专业人员非常重要。
