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欧洲先天畸形的流行情况。

The prevalence of congenital anomalies in Europe.

机构信息

EUROCAT Central Registry, Faculty of Life and Health Sciences, University of Ulster, Newtownabbey, UK.

出版信息

Adv Exp Med Biol. 2010;686:349-64. doi: 10.1007/978-90-481-9485-8_20.

Abstract

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.

摘要

EUROCAT(欧洲先天性畸形监测网络)是欧洲人口出生缺陷登记网络,采用统一的方案和数据质量审查,覆盖 22 个国家的 150 万例年出生人数。EUROCAT 记录 2003-2007 年期间先天性重大畸形的总患病率为 23.9/1000 例活产,其中 80%为活产儿。2.5%有先天性畸形的活产儿在出生后第一周死亡。2.0%为 20 孕周后死产或胎儿死亡。17.6%的病例因产前诊断而终止妊娠(TOPFA)。因此,先天性畸形主要涉及新生儿早期存活的儿童,他们有重要的医疗、社会或教育需求。染色体异常的患病率为 3.6/1000 例活产,占 20 孕周后伴有先天性畸形的死产/胎儿死亡的 28%,占所有 TOPFA 的 48%。先天性心脏病(CHD)是最常见的非染色体亚组,患病率为 6.5/1000 例活产,其次是肢体缺陷(3.8/1000 例)、泌尿系统异常(3.1/1000 例)和神经系统缺陷(2.3/1000 例)。2004 年,与先天性畸形相关的围产儿死亡率为 0.93/1000 例活产,TOPFA 为 4.4/1000 例活产,各国之间存在相当大的差异。基于控制环境危险因素的人群先天性畸形的一级预防是一项至关重要的政策优先事项,包括孕前保健和全人群方法。

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