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Abstract：
The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) CFNBS protocol (IRT/IRT×PAP/IRT) was applied with an IRT-dependent safety net (SN). Out of 88,400 newborns, 256 were tested screen-positive. Fourteen cystic fibrosis (CF) and two cystic fibrosis-positive inconclusive diagnosis (CFSPID) cases were confirmed from the screen-positive cases, and two false-negative cases were diagnosed later. Based on the obtained results, a sensitivity of 88% and a positive predictive value (PPV) of 5.9% were calculated. Following the recognition of false-negative cases, the calculation method of the age-dependent cut-off was changed. In purely biochemical CFNBS protocols, a small protocol change, even after a short period, can have a significant positive impact on the performance. CFNBS should be monitored continuously in order to fine-tune the screening strategy and define the best local practices.
摘要：
这项研究的目的是根据第一年的筛查结果，评估匈牙利的囊性纤维化新生儿筛查（CFNBS）计划的策略。联合免疫反应性胰蛋白酶原（IRT）和胰腺炎相关蛋白（PAP）CFNBS方案（IRT/IRT×PAP/IRT）与IRT依赖性安全网（SN）一起应用。在88,400名新生儿中，256个被测试为屏幕阳性。从筛查阳性病例中确认了14例囊性纤维化（CF）和2例囊性纤维化阳性不确定诊断（CFSPID）病例。后来诊断出2例假阴性病例。根据获得的结果，敏感度为88%,阳性预测值(PPV)为5.9%.在确认假阴性病例后，改变了年龄依赖性截止值的计算方法。在纯生化CFNBS协议中，一个小小的协议改变，即使在短时间内，可以对性能产生重大的积极影响。应持续监测CFNBS，以微调筛查策略并确定最佳本地实践。
