Respiratory Center, Hospital de Niños Dr. Ricardo Gutiérrez, City of Buenos Aires, Argentina.
Newborn Screening Laboratory, Hospital General de Agudos Dr. Carlos Durand, City of Buenos Aires, Argentina.
Pediatr Pulmonol. 2021 Jan;56(1):113-119. doi: 10.1002/ppul.25130. Epub 2020 Nov 2.
The benefits of early cystic fibrosis (CF) detection using newborn screening (NBS) has led to widespread use in NBS programs. Since 2002, a two-stage immunoreactive trypsinogen (IRT/IRT) screening strategy has been used as a CFNBS method in all public maternity units in the City of Buenos Aires, Argentina. However, novel screening strategies may be more efficient. The aim of this study is to prospectively compare two CFNBS strategies: IRT/IRT and IRT/PAP (pancreatitis-associated protein).
A two-year prospective study was performed. IRT was measured in dried blood samples collected 48-72 h after birth. When an IRT value was abnormal, PAP was determined, and a second visit was scheduled to obtain another sample for IRT before 25 days of life. Newborns with a positive CFNBS were referred for a confirmatory sweat test.
There were 69,827 births in the City of Buenos Aires during the period studied; 918 (1.31%) had an abnormal IRT. A total of 207 children (22.5%) failed to return for the second IRT, but only two PAP (0.2%) were not performed. IRT/IRT was more likely to lead to a referral for sweat testing than IRT/PAP (odds ratio 2.3 [95% confidence interval 1.8-2.9], p < .001). Sensitivity and specificity were: 80% and 100% and 86.5% and 82.6% for IRT/IRT and IRT/PAP strategies, respectively.
The IRT/PAP strategy is more sensitive than IRT/IRT and has similar specificity; it avoids a second visit and unnecessary sweat testing, and it reduces loss to follow-up in our population.
使用新生儿筛查（NBS）早期发现囊性纤维化（CF）的益处已导致其在 NBS 项目中广泛应用。自 2002 年以来，阿根廷布宜诺斯艾利斯市所有公立产科单位均采用双阶段免疫反应性胰蛋白酶原（IRT/IRT）筛查策略作为 CFNBS 方法。然而，新的筛查策略可能更有效。本研究旨在前瞻性比较两种 CFNBS 策略：IRT/IRT 和 IRT/PAP（胰腺炎相关蛋白）。
进行了一项为期两年的前瞻性研究。在出生后 48-72 小时采集干血样测量 IRT。当 IRT 值异常时，测定 PAP，并安排第二次就诊以在 25 天生命之前获得另一个 IRT 样本。CFNBS 阳性的新生儿被转介进行确证性汗液试验。
研究期间布宜诺斯艾利斯市有 69827 例分娩；918 例（1.31%）IRT 异常。共有 207 名儿童（22.5%）未返回进行第二次 IRT，但仅两名未进行 PAP（0.2%）。与 IRT/PAP 相比，IRT/IRT 更有可能导致转介进行汗液检测（优势比 2.3[95%置信区间 1.8-2.9]，p<0.001）。IRT/IRT 和 IRT/PAP 策略的灵敏度和特异性分别为 80%和 100%，86.5%和 82.6%。
与 IRT/IRT 相比，IRT/PAP 策略更敏感，特异性相似；它避免了第二次就诊和不必要的汗液检测，并减少了我们人群中的失访。
