Czeizel Andrew E, Métneki Julia, Béres Judit
Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary.
Congenit Anom (Kyoto). 2014 Feb;54(1):22-9. doi: 10.1111/cga.12025.
The mandatory notification of patients ("cases") with different congenital abnormalities (CAs) diagnosed from birth until the end of the first postnatal year by medical doctors was ordered by the Ministry of Health in Hungary in 1962 and this CA-registry was continued as the Hungarian Congenital Abnormality Registry (HCAR) based on the international recommendation from 1970. The primary objective of the HCAR has been to determine the baseline birth prevalence rate of different CAs as reliably as possible, with three secondary objectives: (i) to detect temporal and/or spatial clusters of CAs; (ii) to evaluate increasing or decreasing time trends of CAs; and (iii) to assist in the planning of medical and social services for children and families affected by CA so that appropriate resources are allocated efficiently and effectively. This paper summarizes the activities and the evolution of the HCAR over the past 50 years (1962-2011) including the Hungarian Case-Control Surveillance of Congenital Abnormalities for postmarketing surveillance of drug teratogenicity and prevention of CAs; the special evaluation of unidentified multiple CAs; the Hungarian Surveillance of Germinal Mutations and several international collaborations. In conclusion, Hungary enjoyed optimal conditions for the HCAR due to a centralized state health system; all deliveries took place in inpatient clinics; the quality of pediatric care was high and pediatricians notified most CAs. Autopsy was mandatory in infant death, the staff of the HCAR did not consider this CA-registry only as a statistical system but the Hungarian Center for Congenital Anomaly Control and the Hungarian Case-Control Surveillance of Congenital Abnormalities based on the HCAR worked with close collaboration with the parents in order to promote the possible good quality of life of their affected children and to prevent their risk of recurrence.
1962年，匈牙利卫生部下令医生对出生至出生后第一年年末诊断出的患有不同先天性异常（CA）的患者（“病例”）进行强制报告，并且根据1970年的国际建议，这个CA登记处作为匈牙利先天性异常登记处（HCAR）得以延续。HCAR的主要目标是尽可能可靠地确定不同CA的基线出生患病率，还有三个次要目标：（i）检测CA的时间和/或空间聚集情况；（ii）评估CA的上升或下降时间趋势；（iii）协助为受CA影响的儿童和家庭规划医疗和社会服务，以便高效且有效地分配适当资源。本文总结了HCAR在过去50年（1962 - 2011年）的活动和发展情况，包括用于药物致畸性上市后监测和CA预防的匈牙利先天性异常病例对照监测；对不明多发CA的专项评估；匈牙利生殖细胞突变监测以及多项国际合作。总之，由于国家卫生系统集中化；所有分娩均在住院诊所进行；儿科护理质量高且儿科医生报告了大多数CA，匈牙利具备了开展HCAR的最佳条件。婴儿死亡时尸检是强制性的，HCAR的工作人员并不只将这个CA登记处视为一个统计系统，而是基于HCAR的匈牙利先天性异常控制中心和匈牙利先天性异常病例对照监测与家长密切合作，以提高其受影响孩子可能的生活质量，并预防复发风险。
