Department of PharmacoTherapy, Epidemiology and Economics (PTEE) / Division: Groninger Research Institute of Pharmacy (GRIP), University of Groningen, Groningen, Belfast, UK.
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia.
Am J Med Genet A. 2019 Apr;179(4):595-601. doi: 10.1002/ajmg.a.61067. Epub 2019 Feb 10.
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995-2011. Cases without chromosomal anomalies born during 2005-2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10-1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05-1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90-0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population-based study found a decreasing trend of congenital clubfoot in Europe after 1999-2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT.
我们旨在利用 EUROCAT 网络的数据评估欧洲先天性马蹄内翻足的流行率、出生结局、相关畸形和产前诊断，并验证 EUROCAT 登记处对先天性马蹄内翻足作为主要先天性畸形的记录。该研究纳入了 1995 年至 2011 年期间，18 个 EUROCAT 登记处覆盖的超过 480 万例出生的先天性马蹄内翻足病例。对 2005 年至 2009 年期间出生且无染色体异常的先天性马蹄内翻足病例，随机选择使用诊断细节和治疗情况的调查问卷进行验证。共纳入 5458 例先天性马蹄内翻足病例，其中 5056 例（93%）为活产婴儿。先天性马蹄内翻足的总患病率为 1.13/1000 例（95%CI 1.10-1.16）。无染色体异常的先天性马蹄内翻足患病率为 1.08/1000 例（95%CI 1.05-1.11），孤立性先天性马蹄内翻足患病率为 0.92/1000 例（95%CI 0.90-0.95），两者均呈随时间下降的趋势，且各登记处间患病率差异较大。大多数病例为孤立性先天性马蹄内翻足（82%），11%合并有主要先天性畸形。孤立性先天性马蹄内翻足的产前检出率为 22%，且随时间推移而增加。在 301 例经验证的先天性马蹄内翻足病例中，286 例（95%）诊断得到确认。总之，这项大型基于人群的研究发现，1999-2002 年后欧洲先天性马蹄内翻足的患病率呈下降趋势，产前检出率增加，且 EUROCAT 对先天性马蹄内翻足的编码标准较高。
