Briard M L
Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris.
Ann Biol Clin (Paris). 1988;46(6):387-92.
The authors report their experience in the systematic, co-ordinated and controlled neonatal screening in France: a coverage of approximately 100 per cent for several years, nearly 13 millions of tests for phenylketonuria and more than 7 millions for hypothyroidism, almost 850 phenylketonuric children and more than 1,600 patients with hypothyroidism, screened and taken care of. The frequency of phenylketonuria is estimated at 1 for 16,394 and the frequency of hypothyroidism at 1 for 4,041. They insist on the need for a strict investigation of false negatives and point out a few specific points on the care of affected children. Overall, the assessment of neonatal screening is positive since it has allowed 2,500 children, doomed to mental retardation, to have a normal growth.
作者报告了他们在法国进行系统、协调和可控新生儿筛查方面的经验：几年来覆盖率约为100%，苯丙酮尿症检测近1300万次，甲状腺功能减退检测超过700万次，筛查并护理了近850名苯丙酮尿症患儿和1600多名甲状腺功能减退患者。苯丙酮尿症的发病率估计为1/16394，甲状腺功能减退的发病率为1/4041。他们强调需要对假阴性进行严格调查，并指出了一些关于患病儿童护理的具体要点。总体而言，新生儿筛查的评估是积极的，因为它使2500名注定智力发育迟缓的儿童能够正常成长。
