Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis

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• 作者：Juerg Barben^a ; ^{juerg.barben@kispisg.ch" class="auth_mail" title="E-mail the corresponding author} ; Corina S. Rueegg^b ; ^c ; Maja Jurca^b ; Johannes Spalinger^d ; Claudia E. Kuehni^b ; the Swiss Cystic Fibrosis Screening Group¹
• 关键词：Cystic fibrosis ; Newborn screening ; Fecal elastase ; CFSPID
• 刊名：Journal of Cystic Fibrosis
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：15
• 期：3
• 页码：313-317
• 全文大小：425 K

文摘

The aim of newborn screening (NBS) for CF is to detect children with ‘classic’ CF where early treatment is possible and improves prognosis. Children with inconclusive CF diagnosis (CFSPID) should not be detected, as there is no evidence for improvement through early treatment. No algorithm in current NBS guidelines explains what to do when sweat test (ST) fails. This study compares the performance of three different algorithms for further diagnostic evaluations when first ST is unsuccessful, regarding the numbers of children detected with CF and CFSPID, and the time until a definite diagnosis.

Methods

In Switzerland, CF-NBS was introduced in January 2011 using an IRT-DNA-IRT algorithm followed by a ST. In children, in whom ST was not possible (no or insufficient sweat), 3 different protocols were applied between 2011 and 2014: in 2011, ST was repeated until it was successful (protocol A), in 2012 we proceeded directly to diagnostic DNA testing (protocol B), and 2013–2014, fecal elastase (FE) was measured in the stool, in order to determine a pancreas insufficiency needing immediate treatment (protocol C).

Results

The ratio CF:CFSPID was 7:1 (27/4) with protocol A, 2:1 (22/10) with protocol B, and 14:1 (54/4) with protocol C. The mean time to definite diagnosis was significantly shorter with protocol C (33 days) compared to protocol A or B (42 and 40 days; p = 0.014 compared to A, and p = 0.036 compared to B).

Conclusions

The algorithm for the diagnostic part of the newborn screening used in the CF centers is important and affects the performance of a CF-NBS program with regard to the ratio CF:CFSPID and the time until definite diagnosis. Our results suggest to include FE after initial sweat test failure in the CF-NBS guidelines to keep the proportion of CFSPID low and the time until definite diagnosis short.