Moorthie Sowmiya, Blencowe Hannah, Darlison Matthew W, Lawn Joy, Morris Joan K, Modell Bernadette, Bittles A H, Blencowe H, Christianson A, Cousens S, Darlison M W, Gibbons S, Hamamy H, Khoshnood B, Howson C P, Lawn J, Mastroiacovo P, Modell B, Moorthie S, Morris J K, Mossey P A, Neville A J, Petrou M, Povey S, Rankin J, Schuler-Faccini L, Wren C, Yunnis K A
PHG Foundation, 2 Worts Causeway, Cambridge, UK.
Centre for Maternal, Adolescent, Reproductive, and Child Health, London School of Hygiene and Tropical Medicine, London, UK.
J Community Genet. 2018 Oct;9(4):387-396. doi: 10.1007/s12687-018-0384-2. Epub 2018 Sep 14.
Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible. Consequently, not all countries have yet established robust surveillance systems. For these countries, methods are needed to generate estimates of prevalence of these disorders which can act as a starting point for assessing disease burden and service implications. Here, we describe how registry data from high-income settings can be used for generating reference rates that can be used as provisional estimates for countries with little or no observational data on non-syndromic congenital malformations.
首先是确定重要先天性异常的基线流行病学，以促进规划、政策和资源规划；其次是识别病例集群以及任何其他流行病学变化，这些变化可能为环境或感染危害提供早期预警。然而，建立一个可持续的登记处和监测系统需要大量资源，需要国家基础设施来记录所有病例，并需要诊断设施来识别那些外部不可见的畸形。因此，并非所有国家都建立了强大的监测系统。对于这些国家，需要一些方法来生成这些疾病患病率的估计值，这些估计值可作为评估疾病负担和服务影响的起点。在此，我们描述了如何利用高收入地区的登记处数据来生成参考率，这些参考率可作为几乎没有或没有非综合征性先天性畸形观察数据的国家的临时估计值。
