Farriaux J P, Dhondt J L, Moreno L
Centre Régional Nord-Pas-de-Calais de Dépistage Néonatal, Faculté de Médecine de Lille.
Ann Biol Clin (Paris). 1988;46(6):393-401.
Faced to the success of the neonatal screening for phenylketonuria and congenital hypothyroidism, it was tempting to introduce screening of other metabolic diseases. "Ideal" diseases to be screened are treatable, are not easily recognized by clinical means during the neonatal period, need immediate therapy to prevent irreversible disabilities, have a reasonable frequency and can be detected by and easy test. There is some controversy concerning the list of diseases recommended for mass screening, among them four can be discussed: congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, fulfils most of the criteria, but some changes in the general screening strategy should be made to provide a result as soon as possible, and at least before the 10th day of life; cystic fibrosis, immunoreactive trypsin is a good marker of the disease but its assay needs technical adaptation for mass screening; more information are also required about the efficacy of an early management of the disease; Duchenne muscular dystrophy has a good marker for neonatal screening (creatine kinase), but no treatment exists and the possibility of genetic counselling can only be provided; hypercholesterolaemia is a frequent disease; however, the good marker and the adequate treatment remain to be defined. Pilot programmes, on the behalf of the French Association for Neonatal Screening, are evaluation these problems. However, at the present time, a consensus has been reached that only phenylketonuria and hypothyroidism fulfils criteria for an efficient mass screening programme.
面对苯丙酮尿症和先天性甲状腺功能减退症新生儿筛查的成功，人们很想引入其他代谢疾病的筛查。适合筛查的“理想”疾病应具备可治疗、在新生儿期不易通过临床手段识别、需要立即治疗以防止不可逆转的残疾、发病率合理且能通过简单检测发现等特点。关于推荐进行大规模筛查的疾病清单存在一些争议，其中有四种疾病值得探讨：由于21-羟化酶缺乏导致的先天性肾上腺皮质增生症符合大多数标准，但应在一般筛查策略上做出一些改变，以便尽快得出结果，至少在出生后第10天之前得出结果；囊性纤维化，免疫反应性胰蛋白酶是该疾病的良好标志物，但其检测需要进行技术调整以用于大规模筛查；关于该疾病早期治疗的效果也需要更多信息；杜氏肌营养不良症有一个用于新生儿筛查的良好标志物（肌酸激酶），但目前尚无治疗方法，且只能提供遗传咨询的可能性；高胆固醇血症是一种常见疾病；然而，其良好的标志物和适当的治疗方法仍有待确定。代表法国新生儿筛查协会开展的试点项目正在评估这些问题。然而，目前已达成共识，即只有苯丙酮尿症和甲状腺功能减退症符合高效大规模筛查项目的标准。
