Robert E, Francannet C, Robert J M
Institut Européen des Génomutations, Lyon.
J Gynecol Obstet Biol Reprod (Paris). 1988;17(5):601-7.
The authors describe a population-based birth defects registry, started in 1976. The system surveys about 85,000 births per year, occurring in 140 maternity units and representing more than ten per cent of all the births in France. Monitoring first covered the Rhône-Alpes region, then was extended to the Auvergne region in 1983 and to the Jura district in 1985. The method of investigation was "multi-source", because any doctor in the zone covered was in a position to notify a malformation to the registry. (497 obstetricians, pediatricians, pediatric surgeons, fetopathologists, geneticists and cytogeneticists). Malformations were coded with a specific terminal elaborated in the registry (1,600 items). The mothers' exposures to drugs during the first trimester of pregnancy were coded by trade names. The registry is a full member of the International Clearinghouse for Birth Defects Monitoring Systems, an international organisation now including in this group 25 regional or national birth defects registries and covering more than 3 million births per year. The 1986 results of monitoring birth defects in the described registry are given as examples. Within the eleven years (1976-86), 15,000 cases of malformations were registered, and two clusters have been detected and followed-up: femoral aplasia/hypoplasia in 1980-81 and oesophageal atresia in 1984. No cause was found for these "epidemics". The strong association between in utero exposure to valproic acid with spina bifida is the main result of the activities of the registry since its creation.
作者描述了一个始于1976年的基于人群的出生缺陷登记系统。该系统每年对约85000例出生情况进行调查,这些出生发生在140个产科单位,占法国所有出生人数的10%以上。监测最初覆盖罗纳-阿尔卑斯地区,1983年扩展到奥弗涅地区,1985年扩展到汝拉地区。调查方法是“多源”的,因为该区域内的任何医生都可以向登记处报告畸形情况。(497名产科医生、儿科医生、小儿外科医生、胎儿病理学家、遗传学家和细胞遗传学家)。畸形情况用登记处制定的特定编码(1600项)进行编码。母亲在怀孕头三个月接触药物的情况按商品名进行编码。该登记处是国际出生缺陷监测系统信息交换中心的正式成员,这是一个国际组织,目前该组织包括25个区域或国家出生缺陷登记处,每年覆盖超过300万例出生情况。文中给出了所描述登记处1986年出生缺陷监测的结果作为示例。在11年(1976 - 1986年)内,登记了15000例畸形病例,并检测到两个聚集病例并进行了跟踪:1980 - 1981年的股骨发育不全/发育不良和1984年的食管闭锁。这些“流行病”未发现病因。自登记处成立以来,子宫内接触丙戊酸与脊柱裂之间的强关联是其主要活动成果。