Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Institute for Nursing and Health Research, Ulster University, Northern Ireland, Newtownabbey, UK.
Eur J Epidemiol. 2023 Mar;38(3):325-334. doi: 10.1007/s10654-023-00971-z. Epub 2023 Feb 18.
Electronic health care databases are increasingly being used to investigate the epidemiology of congenital anomalies (CAs) although there are concerns about their accuracy. The EUROlinkCAT project linked data from eleven EUROCAT registries to electronic hospital databases. The coding of CAs in electronic hospital databases was compared to the (gold standard) codes in the EUROCAT registries. For birth years 2010-2014 all linked live birth CA cases and all children identified in the hospital databases with a CA code were analysed. Registries calculated sensitivity and Positive Predictive Value (PPV) for 17 selected CAs. Pooled estimates for sensitivity and PPV were then calculated for each anomaly using random effects meta-analyses. Most registries linked more than 85% of their cases to hospital data. Gastroschisis, cleft lip with or without cleft palate and Down syndrome were recorded in hospital databases with high accuracy (sensitivity and PPV ≥ 85%). Hypoplastic left heart syndrome, spina bifida, Hirschsprung's disease, omphalocele and cleft palate showed high sensitivity (≥ 85%), but low or heterogeneous PPV, indicating that hospital data was complete but may contain false positives. The remaining anomaly subgroups in our study, showed low or heterogeneous sensitivity and PPV, indicating that the information in the hospital database was incomplete and of variable validity. Electronic health care databases cannot replace CA registries, although they can be used as an additional ascertainment source for CA registries. CA registries are still the most appropriate data source to study the epidemiology of CAs.
电子医疗保健数据库越来越多地被用于研究先天性异常 (CA) 的流行病学,尽管人们对其准确性存在担忧。EUROlinkCAT 项目将来自 11 个 EUROCAT 登记处的数据与电子医院数据库联系起来。电子医院数据库中 CA 的编码与 EUROCAT 登记处的(黄金标准)编码进行了比较。对于 2010-2014 年的出生年份,分析了所有链接的活产 CA 病例和医院数据库中所有带有 CA 编码的儿童。登记处计算了 17 种选定 CA 的敏感性和阳性预测值 (PPV)。然后使用随机效应荟萃分析为每个异常计算敏感性和 PPV 的汇总估计值。大多数登记处将其超过 85%的病例与医院数据联系起来。腹裂、唇裂伴或不伴腭裂和唐氏综合征在医院数据库中的记录具有很高的准确性(敏感性和 PPV≥85%)。左心发育不全综合征、脊柱裂、先天性巨结肠、脐膨出和腭裂具有较高的敏感性(≥85%),但低或异质性的 PPV,表明医院数据完整,但可能包含假阳性。我们研究中的其余异常亚组,敏感性和 PPV 较低或异质性,表明医院数据库中的信息不完整且有效性不同。电子医疗保健数据库不能替代 CA 登记处,尽管它们可以作为 CA 登记处的额外确定来源。CA 登记处仍然是研究 CA 流行病学的最合适数据来源。