Munck A, Roussey M
CRCM Pédiatrique, CHU Robert Debré, AP-HP, 48, boulevard Sérurier, 75019 Paris, France.
Arch Pediatr. 2008 Jun;15 Suppl 1:S1-6. doi: 10.1016/S0929-693X(08)73940-X.
In 2002 France implemented a nationwide newborn screening program for cystic fibrosis (CF). The strategy combined immunoreactive trypsinogen and, in case of a value over the cut-off level, DNA analysis in dried blood samples at day 3. Data were centralized and periodically analyzed thus maintaining the percentage of samples requiring mutation analysis (0.6%), limiting the number of false-positive cases (0.1%) without increasing the number of false-negative cases (3.2%). 3.527.353 infants were screened between 2002 and 2006. The overall cystic fibrosis incidence was 1/ 4136 with a wide range of regional variations. Dilemma case presentation occurred for 14 % of the patients; an European working group is actively working on this topic, attempting to establish a consensus on the adequate procedures. Cystic fibrosis newborn screening is feasible all over a nation but needs a strong organization from maternity wards to CF care centers.
2002年，法国实施了一项全国范围内的囊性纤维化（CF）新生儿筛查计划。该策略结合了免疫反应性胰蛋白酶原检测，若检测值超过临界水平，则在出生第3天对干血样本进行DNA分析。数据集中管理并定期分析，从而将需要进行突变分析的样本比例维持在0.6%，在不增加假阴性病例数（3.2%）的情况下，将假阳性病例数限制在0.1%。2002年至2006年间，对3527353名婴儿进行了筛查。囊性纤维化的总体发病率为1/4136，存在广泛的地区差异。14%的患者出现了疑难病例；一个欧洲工作组正在积极研究这一课题，试图就适当的程序达成共识。囊性纤维化新生儿筛查在全国范围内是可行的，但需要从产科病房到CF护理中心建立强有力的组织架构。
