Supplementary Material for: Prevalence Estimates of Rare Congenital Anomalies by Integrating Two Population-Based Registries in Tuscany, Italy

Background/Aims: Population-based registries play a key
role in the epidemiological surveillance of congenital anomalies (CAs).
This study is aimed at improving the epidemiological surveillance and
providing prevalence estimates of rare CAs using the Registry of Rare
Diseases as an added data source to the Registry of Congenital
Anomalies. Methods: Cases of diagnosed rare CAs
(2006-2013) were extracted from the Tuscany Registry of Rare Diseases
and the Tuscany Registry of Congenital Anomalies in order to set up an
integrated dataset. Prevalence (per 100,000 births; 95% confidence
interval) was calculated for each rare CA. Results:
Overall, 56 rare CAs were analyzed including 656 cases, of whom 121
(18.4%) were retrieved from the Registry of Rare Diseases that provided a
major contribution for rare CAs for which a prenatal diagnosis is
difficult, or for CAs more easily diagnosed in the postneonatal period.
After data integration, an increased prevalence estimate was observed in
particular for atresia of bile ducts (6.24; 3.57-10.14), tuberous
sclerosis (2.34; 0.86-5.10), Kabuki syndrome (1.95; 0.63-4.55), and some
monogenic CAs. Conclusions: This study represents an
example of integration of registries operating in the field of rare
diseases. Providing the accurate prevalence of rare CAs is a key point
to improving surveillance, supporting public health policies, and
planning healthcare.

背景与目的：基于人群的登记库在先天性畸形（Congenital Anomalies, CAs）的流行病学监测中发挥着关键作用。本研究旨在以先天性畸形登记库（Registry of Congenital Anomalies）为基础，辅以罕见病登记库（Registry of Rare Diseases）作为补充数据源，优化先天性畸形的流行病学监测工作，并提供罕见先天性畸形的患病率（prevalence）估算数据。
方法：本研究从托斯卡纳罕见病登记库（Registry of Rare Diseases）与托斯卡纳先天性畸形登记库（Registry of Congenital Anomalies）中提取2006至2013年确诊的罕见CAs病例，以构建整合数据集。研究针对每一种罕见CAs计算了患病率（每10万活产儿；95%置信区间，confidence interval）。
结果：最终共纳入56种罕见CAs，共计656例病例，其中121例（18.4%）来自罕见病登记库；该登记库为产前诊断难度较高的罕见CAs，以及新生儿后期更易确诊的CAs提供了主要的病例来源。完成数据整合后，部分病种的患病率估算值出现显著提升，其中尤以胆道闭锁（atresia of bile ducts，6.24；3.57~10.14）、结节性硬化症（tuberous sclerosis，2.34；0.86~5.10）、歌舞伎综合征（Kabuki syndrome，1.95；0.63~4.55）以及部分单基因先天性畸形为著。
结论：本研究为罕见病领域登记库的整合应用提供了实践范例。准确获取罕见CAs的患病率，是优化监测工作、支撑公共卫生政策制定与医疗服务规划的核心要点。