Xue Andrea, Lénárt István, Kincs Judit, Szabó Hajnalka, Párniczky Andrea, Balogh István, Deák Anna, Monostori Péter Béla, Hegedűs Krisztina, Szabó Attila J, Szatmári Ildikó
Paediatric Centre, MTA Centre of Excellence, Semmelweis University, 1083 Budapest, Hungary.
Department of Paediatrics, Albert Szent-Györgyi Medical School, University of Szeged, 6725 Szeged, Hungary.
Int J Neonatal Screen. 2023 Aug 23;9(3):47. doi: 10.3390/ijns9030047.
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.
本研究旨在根据匈牙利囊性纤维化新生儿筛查（CFNBS）项目第一年的筛查结果，对其策略进行评估。采用了联合免疫反应性胰蛋白酶原（IRT）和胰腺炎相关蛋白（PAP）的CFNBS方案（IRT/IRT×PAP/IRT），并设置了基于IRT的安全网（SN）。在88400名新生儿中，256名检测为筛查阳性。从筛查阳性病例中确诊了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，后来又诊断出2例假阴性病例。根据所得结果，计算出灵敏度为88%，阳性预测值（PPV）为5.9%。在识别出假阴性病例后，改变了年龄依赖性临界值的计算方法。在纯生化CFNBS方案中，即使在短时间后进行小的方案改变，也可能对性能产生显著的积极影响。应持续监测CFNBS，以便微调筛查策略并确定最佳的本地做法。
