Wesley A W, Smith P A, Elliott R B
Department of Paediatrics, University of Auckland, New Zealand.
Aust Paediatr J. 1989 Jun;25(3):151-5. doi: 10.1111/j.1440-1754.1989.tb01440.x.
Neonatal cystic fibrosis (CF) screening has been performed in New Zealand for a total of 7 years. This study reports the experience with this procedure in New Zealand over a 4 year period and compares it with 2 years when diagnoses of CF were suggested by clinical features only. A total of 72 infants were confirmed as having CF during 4 years of screening. Twenty-eight infants were found to have CF during 2 years in which screening was not performed. There were 29 false positive diagnoses during the screening years and six false negative diagnoses. Three of the false negative diagnoses occurred because of laboratory error, but three occurred because either the first or second measurement of immunoreactive trypsinogen (IRT) was normal. Faecal chymotrypsin was measured in samples from 434 infants at the time of the second IRT and assisted with the diagnosis for one infant which might otherwise have been missed. Only 42.5% of infants were asymptomatic at the time of the confirmatory sweat test. Significant morbidity and mortality was associated with meconium ileus which occurred in 24% of infants with CF. Improved ascertainment of cases of CF has occurred since screening began. Further follow-up is required to determine other benefits of newborn screening.
新西兰开展新生儿囊性纤维化（CF）筛查已达7年之久。本研究报告了新西兰在4年期间开展该筛查程序的经验，并将其与仅依据临床特征诊断CF的2年情况进行了比较。在4年的筛查期间，共有72名婴儿被确诊患有CF。在未进行筛查的2年中，有28名婴儿被发现患有CF。筛查期间有29例假阳性诊断和6例假阴性诊断。其中3例假阴性诊断是由于实验室误差导致的，但另外3例是因为免疫反应性胰蛋白酶原（IRT）的首次或第二次测量结果正常。在第二次IRT检测时，对434名婴儿的样本进行了粪糜蛋白酶检测，该检测帮助确诊了1名婴儿，否则该病例可能会被漏诊。在进行确诊性汗液试验时，只有42.5%的婴儿没有症状。胎粪性肠梗阻与CF相关，24%的CF婴儿出现了该症状，且伴有显著的发病率和死亡率。自筛查开始以来，CF病例的确诊情况有所改善。需要进一步随访以确定新生儿筛查的其他益处。
