Swiss Newborn Screening Laboratory, University Children's Hospital Zürich, Zurich, Zürich, Switzerland
Oslo Centre for Biostatistics and Epidemiology, Oslo University Hospital, Oslo, Norway.
Arch Dis Child Fetal Neonatal Ed. 2023 Mar;108(2):176-181. doi: 10.1136/archdischild-2021-323549. Epub 2022 Sep 8.
Newborn screening (NBS) for cystic fibrosis (CF) was introduced in Switzerland in 2011 based on an immunoreactive trypsinogen (IRT)-DNA-IRT protocol. CF diagnosis was confirmed by sweat test and/or genetics but remained inconclusive for some newborns (cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS)/CF screen positive, inconclusive diagnosis (CFSPID)). We aimed to (1) Describe IRT levels in healthy newborns in the first year of life and by gestational age (GA), and (2) Compare IRT at two time points between healthy newborns and newborns with CF and CRMS/CFSPID.
Retrospective study.
National NBS database.
All children with an IRT measurement by heel prick test from 2011 to 2019.
None.
IRT values were extracted from the National NBS Laboratory, and clinical characteristics of positively screened children from the CF-NBS database. Second IRT assessment in positively screened children was usually performed after 18-24 days. We calculated internal IRT Z-Scores and multiples of the median to compare our results across different laboratory tools.
Among 815 899 children; 232 were diagnosed with CF, of whom 36 had meconium ileus (MI); 27 had CRMS/CFSPID. Among all samples analysed, mean IRT Z-Scores were higher for newborns with GA <33 weeks and ≥43 weeks (all Z-Scores >0.11) compared with term babies (all Z-Scores ≤0.06). Repeated IRT Z-Scores after a median (IQR) of 19 (17-22) days remained high for infants with CF with or without MI but decreased for infants with CRMS/CFSPID.
Measurement of a second IRT value can help distinguish between children with CRMS/CFSPID and CF, early in life.
2011 年，瑞士基于免疫反应性胰蛋白酶原（IRT）-DNA-IRT 方案，开展了针对囊性纤维化（CF）的新生儿筛查（NBS）。CF 的诊断通过汗液试验和/或遗传学确认，但一些新生儿的诊断仍不确定（囊性纤维化跨膜电导调节因子相关代谢综合征（CRMS）/CF 筛查阳性，不确定诊断（CFSPID））。我们旨在：（1）描述健康新生儿在生命第一年和胎龄（GA）的 IRT 水平；（2）比较 CF 和 CRMS/CFSPID 新生儿与健康新生儿在两个时间点的 IRT。
回顾性研究。
国家 NBS 数据库。
所有 2011 年至 2019 年通过足跟采血试验进行 IRT 测量的儿童。
无。
IRT 值从国家 NBS 实验室提取，阳性筛查儿童的临床特征从 CF-NBS 数据库提取。阳性筛查儿童的第二次 IRT 评估通常在 18-24 天后进行。我们计算了内部 IRT Z 评分和中位数倍数，以比较不同实验室工具的结果。
在 815899 名儿童中；232 名被诊断为 CF，其中 36 名患有胎粪性肠梗阻（MI）；27 名患有 CRMS/CFSPID。在所有分析的样本中，GA<33 周和≥43 周的新生儿的 IRT Z 评分均高于足月婴儿（所有 Z 评分>0.11）（所有 Z 评分≤0.06）。中位数（IQR）后 19 天（17-22）的重复 IRT Z 评分对于有或没有 MI 的 CF 婴儿仍然较高，但对于 CRMS/CFSPID 婴儿则降低。
在生命早期，测量第二次 IRT 值可帮助区分 CRMS/CFSPID 和 CF 患儿。
