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Newborn screening for cystic fibrosis

  • Review
  • Intervention




Does newborn screening for cystic fibrosis (CF) improve clinical outcomes, quality of life and survival?


To examine whether newborn screening for CF prevents or reduces irreversible organ damage and improves clinical outcomes, quality of life and survival in people with CF without unacceptable adverse effects.

Search methods

We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from electronic database searches, handsearches of relevant journals and abstract books of conference proceedings.

The Group's Trials Register last searched: June 2008.

Selection criteria

Randomised or quasi-randomised controlled trials, published and unpublished, comparing screening to clinical diagnosis in people with CF.

Data collection and analysis

Two authors independently assessed trial eligibility and quality and independently extracted data. Allocation concealment was unclear in both studies and sequence generation adequate in one.

Main results

Searches identified six trials. Two trials involving 1,124,483 neonates (210 with CF) with a maximum follow up of 17 years were eligible for inclusion. Varying study designs, outcomes reported and summary measures precluded calculation of pooled estimates and only data from one study were analysed. Severe malnutrition was less common among screened participants. Compared with screened participants, the odds ratio of weight below the tenth percentile was 4.12 (95% CI 1.64 to 10.38) and for height was 4.62 (95% CI 1.69 to 12.61) in the control group.

At age seven, 88% of screened participants and 75% of controls had lung function parameters within normal limits of at least 89% predicted. At diagnosis chest radiograph scores were significantly better among screened participants; 33% of screened versus 50% of control participants had Wisconsin chest X-ray (WCXR) scores over five (P = 0.097) and 24% of screened versus 45% of control participants had Brasfield chest X-ray (BCXR) scores under 21 (P = 0.042)). Over time, chest radiograph scores were worse in the screened group (WCXR P = 0.017 and BCXR P = 0.041). Results were no longer significant after adjustment for genotype, pancreatic status, and Pseudomonas aeruginosa-culture results. In screened participants colonisation with Pseudomonas aeruginosa occurred earlier. Estimates suggest diagnosis through screening is less expensive.

Authors' conclusions

Two randomised controlled trials assessing neonatal screening in CF were identified; data from one study were included. Nutritional benefits are apparent. Screening provides potential for better pulmonary outcomes, but confounding factors influenced long-term pulmonary prognosis of people with CF. Screening seems less expensive than traditional diagnosis.








我們搜尋了Cochrane Cystic Fibrosis and Genetic Disorders Group的登錄資料,其中包含電子資料庫、期刊與會議記錄的摘要。最新的登錄資料是2006年9月。


隨機對照(Randomised)或半隨機對照試驗(quasirandomised controlled trials),已發表和未發表,比較篩檢與臨床診斷患有囊性纖維化的人。


兩位作者分別獨立評估試驗的資格和品質與提取有效數據。並不清楚在研究中是否進行遮盲設計,但其中只有一個研究利用產生序列(sequence generation)進行分配。


本次共搜尋到六個試驗。兩個試驗,包含1,124,483新生兒(210名患有囊性纖維化),其中最大的已追蹤17年,因此合乎研究收納標準。由於研究設計、成果報告及測量方式具有差異,因此排除混合估計的統計。只有分析一個研究數據。參與篩檢的人較不常見到嚴重的營養不良。控制組中,體重低於10%的odds ratio為4.12(95%CI為1.64至10.38)而身高是4.62(95%CI為1.69至12.61)。在七歲時,88%的受試者和75%的對照組肺功能數值在正常範圍內。參與者確診時的胸部X光明顯較佳;33%的篩檢者及50%的控制組的Wisconsin chest Xray(WCXR)分數超過5分(P = 0.097);而24%的篩檢者及45 %的控制組在Brasfield chest Xray (BCXR)分數在21之下(P = 0.042))。隨著時間的推移,胸部X光在篩檢組分數變差,(WCXR P = 0.017和BCXR P = 0.041)。調整基因型、胰腺的狀況、和綠膿桿菌培養的結果後統計不再顯著。在篩檢者呼吸道的綠膿桿菌叢集群現象發生較早。估計顯示,通過篩選的診斷費用較低。





此翻譯計畫由臺灣國家衛生研究院(National Health Research Institutes, Taiwan)統籌。



Plain language summary

Screening newborn babies for cystic fibrosis

In people with cystic fibrosis lung disease and malnutrition occur very early in life. These complications are suited to early treatment. Newborn screening may therefore improve outcomes for people with cystic fibrosis. We aimed to find out whether newborn screening prevents or reduces organ damage and improves clinical outcomes in people with CF without unacceptable adverse effects. This review includes two trials with 1,124,483 babies (210 with cystic fibrosis). The trials compared newborn screening to clinical diagnosis. We were only able to analyse data from one of the trials. This trial showed that severe malnutrition was less common among screened babies. Screened babies had better chest radiograph scores at diagnosis, but these scores became worse over time. The screened babies become colonised with Pseudomonas aeruginosa earlier. Costs for screening were less than costs for traditional diagnosis.