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Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs
Molecular Genetics and Metabolism ( IF 3.7 ) Pub Date : 2021-08-15 , DOI: 10.1016/j.ymgme.2021.08.005
Stacey L Martiniano 1 , Kendra Croak 2 , Gregory Bonn 2 , Marci K Sontag 3 , Scott D Sagel 1
Affiliation  

The Colorado Newborn Screening Program (CO-NBS) screens for cystic fibrosis (CF) by measuring immunoreactive trypsinogen (IRT) from two screens coupled with DNA analysis (IRT/IRT/DNA). The Colorado CF Care Center identified 8 missed CF cases among 358,187 infants screened by the CO-NSP since 2016. Retrospective analysis of CO-NSP IRT data shows that a 96th percentile floating IRT cutoff with a 50 ng/mL fixed cutoff on the first screen, and second screen 50 ng/mL fixed cutoff would have identified 7 of the 8 missed cases. These efforts demonstrate the importance of continuous quality improvement in order to increase sensitivity and reduce missed cases.



中文翻译:

通过实施浮动截止值改善科罗拉多州 IRT-IRT-DNA 囊性纤维化新生儿筛查算法的结果

科罗拉多州新生儿筛查计划 (CO-NBS) 通过测量来自两个屏幕的免疫反应性胰蛋白酶原 (IRT) 以及 DNA 分析 (IRT/IRT/DNA) 来筛查囊性纤维化 (CF)。自 2016 年以来,科罗拉多 CF 护理中心在 CO-NSP 筛查的 358,187 名婴儿中发现了 8 例漏诊的 CF 病例。对 CO-NSP IRT 数据的回顾性分析表明,第一个筛查的 96% 浮动 IRT 截止值和 50 ng/mL 固定截止值,第二个筛选 50 ng/mL 固定截止值将确定 8 个漏诊病例中的 7 个。这些努力证明了持续改进质量以提高敏感性和减少漏诊的重要性。

更新日期:2021-08-15
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