先天性畸形患儿 20 年生存状况：一项基于人群的研究。

20-year survival of children born with congenital anomalies: a population-based study.

机构信息

Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK.

出版信息

Lancet. 2010 Feb 20;375(9715):649-56. doi: 10.1016/S0140-6736(09)61922-X. Epub 2010 Jan 19.

DOI:10.1016/S0140-6736(09)61922-X

PMID:20092884

Abstract

BACKGROUND

Congenital anomalies are a leading cause of perinatal and infant mortality. Advances in care have improved the prognosis for some congenital anomaly groups and subtypes, but there remains a paucity of knowledge about survival for many others, especially beyond the first year of life. We estimated survival up to 20 years of age for a range of congenital anomaly groups and subtypes.

METHODS

Information about children with at least one congenital anomaly, delivered between 1985 and 2003, was obtained from the UK Northern Congenital Abnormality Survey (NorCAS). Anomalies were categorised by group (the system affected), subtype (the individual disorder), and syndrome according to European Surveillance of Congenital Anomalies (EUROCAT) guidelines. Local hospital and national mortality records were used to identify the survival status of liveborn children. Survival up to 20 years of age was estimated by use of Kaplan-Meier methods. Cox proportional hazards regression was used to examine factors that affected survival.

FINDINGS

13,758 cases of congenital anomaly were notified to NorCAS between 1985 and 2003. Survival status was available for 10 850 (99.0%) of 10 964 livebirths. 20-year survival was 85.5% (95% CI 84.8-86.3) in individuals born with at least one congenital anomaly, 89.5% (88.4-90.6) for cardiovascular system anomalies, 79.1% (76.7-81.3) for chromosomal anomalies, 93.2% (91.6-94.5) for urinary system anomalies, 83.2% (79.8-86.0) for digestive system anomalies, 97.6% (95.9-98.6) for orofacial clefts, and 66.2% (61.5-70.5) for nervous system anomalies. Survival varied between subtypes within the same congenital anomaly group. The proportion of terminations for fetal anomaly increased throughout the study period (from 12.4%, 9.8-15.5, in 1985 to 18.3%, 15.6-21.2, in 2003; p<0.0001) and, together with year of birth, was an independent predictor of survival (adjusted hazard ratio [HR] for proportion of terminations 0.95, 95% CI 0.91-0.99, p=0.023; adjusted HR for year of birth 0.94, 0.92-0.96, p<0.0001).

INTERPRETATION

Estimates of survival for congenital anomaly groups and subtypes will be valuable for families and health professionals when a congenital anomaly is detected, and will assist in planning for the future care needs of affected individuals.

FUNDING

BDF Newlife.

摘要

背景

先天性异常是围产期和婴儿死亡的主要原因。随着医疗技术的进步，一些先天性异常群体和亚型的预后得到了改善，但对于许多其他群体和亚型，尤其是一岁以后的生存情况，我们仍然知之甚少。我们估计了一系列先天性异常群体和亚型的 20 年生存率。

方法

从英国北方先天性异常调查（NorCAS）中获取了 1985 年至 2003 年间至少有一种先天性异常的活产儿的信息。根据欧洲先天性异常监测系统（EUROCAT）的指南，将异常按组（受影响的系统）、亚型（个体疾病）和综合征进行分类。利用当地医院和国家死亡记录来确定活产儿的生存状况。通过 Kaplan-Meier 方法估计 20 岁时的生存率。使用 Cox 比例风险回归来检验影响生存率的因素。

结果

在 1985 年至 2003 年期间，NorCAS 共报告了 13758 例先天性异常病例。在 10964 例活产儿中，有 10850 例（99.0%）的生存状态可查。至少有一种先天性异常的个体 20 年生存率为 85.5%（95%CI 84.8-86.3），心血管系统异常为 89.5%（88.4-90.6），染色体异常为 79.1%（76.7-81.3），泌尿系统异常为 93.2%（91.6-94.5），消化系统异常为 83.2%（79.8-86.0），口面裂为 97.6%（95.9-98.6），神经系统异常为 66.2%（61.5-70.5）。同一先天性异常组内的亚型生存率不同。整个研究期间，因胎儿异常而终止妊娠的比例不断增加（从 1985 年的 12.4%（9.8-15.5）增至 2003 年的 18.3%（15.6-21.2）；p<0.0001），且与出生年份一起，是生存率的独立预测因素（终止妊娠比例的校正优势比 [HR]为 0.95，95%CI 0.91-0.99，p=0.023；出生年份的校正 HR 为 0.94，0.92-0.96，p<0.0001）。