Farriaux J P, Vidailhet M, Briard M L, Belot V, Dhondt J L
Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant, Paris, France.
J Inherit Metab Dis. 2003;26(8):729-44. doi: 10.1023/B:BOLI.0000009921.42503.c2.
This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statutory framework and the lessons of a pilot study carried out 10 years ago. The French association for the screening and prevention of infant handicaps (AFDPHE) has been mandated by its regulatory agencies to organize screening for CF in France (metropolitan and overseas territories). During the year 2001, expert groups (Technical Aspects, Information, Ethics and Genetics, Criteria for CF Centres, Protocol for the Care of a Newborn with CF) issued recommendations for the establishment of a national programme that would guarantee efficiency and adequate patient care from the time of diagnosis onward. The programme is based on a strategy combining immunoreactive trypsin (IRT) assay and the analysis of DNA mutations in dried blood samples obtained at 3 days of age. When an elevated IRT value is found, DNA analysis is performed on the same sample. Owing to the relative regional heterogeneity existing in France, 30 selected mutations are used, which provide 85% coverage. The Ethics and Genetics Committee recommended that, in order to avoid arousing anxiety by a recall, informed consent, according to the French legislation on bioethics, should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. Information brochures for parents and health professionals have been designed. A new organization of patient care, involving the creation of CF centres recognized by the Ministry of Health, has been decided; all children diagnosed are to be referred to such centres, where they can be well cared for by a trained staff with sufficient means. The programme was implemented region by region in France, from the beginning of the year 2002 to early 2003. The expert groups still meet periodically to evaluate the implementation of the programme and to check that the terms of the agreement between the AFDPHE and the Social Security Agency are complied with.
本文介绍了在法国引入囊性纤维化（CF）系统筛查后，对新生儿筛查计划所做的调整，同时考虑了法律和法规框架以及10年前开展的一项试点研究的经验教训。法国婴儿残疾筛查与预防协会（AFDPHE）已获其监管机构授权，在法国（本土及海外领地）组织CF筛查。2001年期间，专家小组（技术层面、信息、伦理与遗传学、CF中心标准、CF新生儿护理方案）发布了关于建立国家筛查计划的建议，该计划将确保从诊断之时起的筛查效率和对患者的充分护理。该计划基于一种将免疫反应性胰蛋白酶（IRT）检测与对出生3天时采集的干血样本中的DNA突变分析相结合的策略。当IRT值升高时，对同一样本进行DNA分析。由于法国存在相对的地区异质性，使用了30种选定突变进行检测，可以覆盖85%的情况。伦理与遗传学委员会建议，为避免因召回引发焦虑，根据法国生物伦理法规定义下的知情同意应在新生儿出生时通过让父母直接在采样纸上签字来获取。已为家长和卫生专业人员设计了信息手册。已决定建立一种新的患者护理组织形式，包括设立得到卫生部认可的CF中心；所有确诊儿童都将被转诊至此类中心，在那里他们可以得到训练有素且资源充足的工作人员的良好护理。该计划于2002年初至2003年初在法国逐个地区实施。专家小组仍定期开会，评估该计划实施情况，并检查AFDPHE与社会保障机构之间协议条款的遵守情况。
