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土耳其的囊性纤维化新生儿查计划:假阴性测试的经验和优化需求

Fevziye Çoksüer¹, Gökçen Kartal Öztürk¹, Handan Duman Şenol²

¹Department of Pediatric Pulmonology, Ege University Faculty of Medicine, İzmir, Türkiye

Balkan medical journal

|November 22, 2024

概括

土耳其的新生儿查囊性纤维化 (CF) 使用IRT-1/IRT-2具有低灵敏度和高错误阳性率. 调整截止值或策略至关重要,以减少错过的诊断,并提高CF新生儿查的有效性.

科学领域:

新生儿查新生儿查
儿科肺病学儿科肺病学
遗传疾病的诊断遗传疾病的诊断

背景情况:

2015年1月在土耳其启动的全国性囊性纤维化新生儿血点查 (CF-NBS) 计划,使用连续免疫反应性试素 (IRT-1/IRT-2) 测试.
该计划旨在通过血点分析检测新生儿的囊性纤维化 (CF).

研究的目的:

评估土耳其国家CF查计划的有效性.
为了确定IRT-1/IRT-2的最佳切断值.
确定在CF新生儿查中减少晚诊断的错误阴性患者 (FNP) 的策略.

主要方法:

进行了一项回顾性队列研究.
新生儿的血斑在出生后48-72小时内被收集,用于IRT-1/IRT-2测试,切断值分别为90μg/l和70μg/l.
有高IRT水平的婴儿接受了汗水测试 (ST);诊断包括CF,CRMS/CFSPID和假阳性NBS,以及临床诊断的FNP.

主要成果:

在227名NBS阳性婴儿中,53名 (23.34%) 患有CF,11名 (4.84%) 是CRMS/CFSPID,163名 (71.8%) 是假阳性.
66名婴儿被诊断为CF;80.3%是NBS阳性,而19.7%是临床诊断的FNP.
该IRT/IRT协议的灵敏度为80.3%,正预测值为23.3%.

结论:

目前在土耳其用于CF新生儿查的IRT/IRT协议具有低灵敏度和PPV,错误阳性和FNP的高率,使其不切实际.
在CF新生儿查中,假阴性结果导致显著的诊断延迟,并破坏了查目标.
修订IRT-1/IRT-2截止值或实施替代策略对于最大限度地减少遗漏的CF诊断至关重要.

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