Stone D H
Social Paediatric and Obstetric Research Unit, Glasgow, UK.
J Inherit Metab Dis. 1989;12(1):4-12. doi: 10.1007/BF01805525.
Since 1972, the Glasgow Register of Congenital Anomalies has collected population-based data on all anatomical, metabolic and genetic congenital anomalies. Multiple sources of ascertainment, with no time limit for registration, are used. Its objectives are the detection of epidemics, the calculation of prevalence rates, the epidemiological investigation of malformations and the study of cohorts of survivors. A review of the achievements of the Register to date suggests that these objectives have only partly been fulfilled, though a number of recent measures, including the association of the Register with the multi-centre European Registry (EUROCAT), have improved its future prospects. Previously unpublished data on cystic fibrosis and phenylketonuria are presented indicating that the prevalence rates of these disorders are stable and comparable to those of other centres, while the prevalence of hypothyroidism appears to have risen slightly since 1982.
自1972年以来，格拉斯哥先天性异常登记处收集了基于人群的所有解剖学、代谢性和遗传性先天性异常的数据。使用了多种确定来源，且登记没有时间限制。其目标是检测流行病、计算患病率、对畸形进行流行病学调查以及对幸存者队列进行研究。对该登记处迄今为止所取得成就的回顾表明，这些目标仅部分得以实现，不过最近采取的一些措施，包括将该登记处与多中心欧洲登记处（EUROCAT）关联起来，已改善了其未来前景。文中呈现了此前未发表的关于囊性纤维化和苯丙酮尿症的数据，表明这些疾病的患病率稳定，且与其他中心相当，而甲状腺功能减退症的患病率自1982年以来似乎略有上升。
