Boyle Breidge, Addor Marie-Claude, Arriola Larraitz, Barisic Ingeborg, Bianchi Fabrizio, Csáky-Szunyogh Melinda, de Walle Hermien E K, Dias Carlos Matias, Draper Elizabeth, Gatt Miriam, Garne Ester, Haeusler Martin, Källén Karin, Latos-Bielenska Anna, McDonnell Bob, Mullaney Carmel, Nelen Vera, Neville Amanda J, O'Mahony Mary, Queisser-Wahrendorf Annette, Randrianaivo Hanitra, Rankin Judith, Rissmann Anke, Ritvanen Annukka, Rounding Catherine, Tucker David, Verellen-Dumoulin Christine, Wellesley Diana, Wreyford Ben, Zymak-Zakutnia Natalia, Dolk Helen
EUROCAT: WHO Collaborating Centre for the Surveillance of Congenital Anomalies, University of Ulster, Coleraine, UK.
School of Nursing and Midwifery, Queens University Belfast, Belfast, UK.
Arch Dis Child Fetal Neonatal Ed. 2018 Jan;103(1):F22-F28. doi: 10.1136/archdischild-2016-311845. Epub 2017 Jun 30.
To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.
DESIGN, SETTING AND OUTCOME MEASURES: EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status.
According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly.
By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention.
通过比较欧洲先天性异常监测（EUROCAT）登记处收集的婴儿死亡率数据与世界卫生组织（WHO）死亡率数据库，验证欧洲先天性异常所致全球疾病负担（GBD）的估计值，并评估死产和胎儿异常妊娠终止（TOPFA）在婴儿死亡率统计解释中的重要性。
设计、设置和结果测量：EUROCAT是一个先天性异常登记网络，收集活产、妊娠20周起的胎儿死亡和TOPFA数据。对19个国家29个登记处2005 - 2009年的数据进行分析，并将婴儿死亡率（<1岁活产儿死亡）与WHO死亡率数据库进行比较。基于这种比较显示生存状况确认不佳，8个EUROCAT国家被排除在进一步分析之外。
根据WHO的数据，17% - 42%的婴儿死亡率归因于先天性异常。在11个EUROCAT国家，先天性异常的平均婴儿死亡率为每1000例出生1.1例，在TOPFA为非法的国家（马耳他3.0，爱尔兰2.1）发生率更高。先天性异常的死产率为每1000例0.6例。TOPFA的平均患病率为每1000例4.6例，几乎是死产和婴儿死亡总和的三倍。TOPFA也影响了非致命性先天性异常的新生儿后存活者的患病率。
通过在GBD生命损失年（YLL）估计中排除TOPFA和死产，GBD低估了先天性异常所致疾病负担，因此随着时间推移YLL的下降可能掩盖了一级、二级和三级预防方面缺乏进展的情况。
