Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disease in the Republic of Ireland (ROI), with a previously quoted incidence of 1 in 1353 and carrier rate of 1 in 19. The National Newborn Screening (NBS) for CF was incorporated in July 2011 in the ROI. A cut-off point of the top 1% Immunoreactive Trypsinogen (IRT) was taken as an indication for 38 CFTR variant panel to maximise identification of affected CF cases and to minimise detection of carriers. All neonates from July 2011 to Dec 2017 with an elevated IRT on NBS were tested with 38 CFTR mutation panel and included. Clinical and laboratory database were analysed. In the first 6.5 years a total of 5,053 newborns (1.16% of total births) were screened with 38 CFTR panel. 170 CF affected cases, 320 unaffected carriers, 32 CF Screening Positive Inconclusive Diagnosis (CFSPID) were identified. There was one missed diagnosis. The most common disease-causing variant was c.1521_1523delCTT (p.(Phe508del)) followed by c.1652G>A (p.(Gly551Asp)). 95 out of 170 (55%) affected newborns were homozygous for c.1521_1523delCTT (p.(Phe08del)) and 25 (15%) carried at least one copy of c.1652G>A (p.(Gly551Asp)). Hence, 70% of affected newborns were eligible for CFTR modulator treatment. The NBS programme has identified almost triple the number of affected newborn with c.1652G>A (p.(Gly551Asp)) than previously quoted figures and identified less than 50% of carriers than predicted. The revised incidence and carrier frequency of CF in the ROI is 1 in 2570 and 1 in 25, respectively.

囊性纤维化 (CF) 是爱尔兰共和国 (ROI) 中最常见的限制生命的常染色体隐性疾病，之前引用的发病率为 1353 分之一，携带率为 19 分之一。 CF 的全国新生儿筛查 (NBS)于 2011 年 7 月纳入投资回报率。将最高 1% 免疫反应性胰蛋白酶原 (IRT) 的分界点作为 38 CFTR 变异面板的指示，以最大限度地识别受影响的 CF 病例并最大限度地减少对携带者的检测。从 2011 年 7 月到 2017 年 12 月，所有在 NBS 上 IRT 升高的新生儿都用 38 CFTR突变面板进行了测试并包括在内。分析了临床和实验室数据库。在最初的 6.5 年中，共有 5,053 名新生儿（占总出生人数的 1.16%）接受了 38 CFTR筛查控制板。确定了 170 名 CF 感染病例、320 名未受影响的携带者、32 名 CF 筛查阳性不确定诊断 (CFSPID)。有一个漏诊。最常见的致病变异是 c.1521_1523delCTT (p.(Phe508del))，其次是 c.1652G>A (p.(Gly551Asp))。170 名 (55%) 受影响的新生儿中有 95 名 (55%) 是 c.1521_1523delCTT 纯合子 (p.(Phe08del))，25 名 (15%) 携带至少一份 c.1652G>A (p.(Gly551Asp))。因此，70% 的受影响新生儿有资格接受 CFTR 调节剂治疗。NBS 计划确定的 c.1652G>A (p.(Gly551Asp)) 受影响新生儿的数量几乎是之前引用的数字的三倍，并且确定的携带者少于预测的 50%。ROI 中 CF 的修正发生率和载波频率分别为 2570 分之一和 25 分之一。