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. 2009 Jan 21;2009(1):CD001402.
doi: 10.1002/14651858.CD001402.pub2.

Newborn screening for cystic fibrosis

Kevin W Southern  1 , Marieke M E Mérelle, Jeannette E Dankert-Roelse, A D Nagelkerke
Affiliations

Newborn screening for cystic fibrosis

Kevin W Southern et al. Cochrane Database Syst Rev. .

Abstract

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

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Selection criteria: Randomised or quasi-randomised controlled trials, published and unpublished, comparing screening to clinical diagnosis in people with CF.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

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Conflict of interest statement

None known.

Figures

1.1
1.1. Analysis
Comparison 1 Screening versus non‐screening, Outcome 1 Wisconsin chest X‐ray scores.
1.2
1.2. Analysis
Comparison 1 Screening versus non‐screening, Outcome 2 Brasfield chest X‐ray scores.
1.3
1.3. Analysis
Comparison 1 Screening versus non‐screening, Outcome 3 Weight below 10th percentile (at 13 years old).
1.4
1.4. Analysis
Comparison 1 Screening versus non‐screening, Outcome 4 Height below 10th percentile (at 13 years old).
1.5
1.5. Analysis
Comparison 1 Screening versus non‐screening, Outcome 5 Lack of knowledge among parents about neonatal screening.
1.6
1.6. Analysis
Comparison 1 Screening versus non‐screening, Outcome 6 Lack of knowledge among parents about CF being among tests.
1.7
1.7. Analysis
Comparison 1 Screening versus non‐screening, Outcome 7 Incorrect interpretation by parents of a positive IRT test.
1.8
1.8. Analysis
Comparison 1 Screening versus non‐screening, Outcome 8 Incorrect interpretation by parents of a negative sweat test.
1.9
1.9. Analysis
Comparison 1 Screening versus non‐screening, Outcome 9 Anxiety among parents in response to a false‐positive screening test.
1.10
1.10. Analysis
Comparison 1 Screening versus non‐screening, Outcome 10 Depression among parents in response to a false‐positive screening test.
1.11
1.11. Analysis
Comparison 1 Screening versus non‐screening, Outcome 11 Shock among parents in response to a false‐positive screening test.
1.12
1.12. Analysis
Comparison 1 Screening versus non‐screening, Outcome 12 Disbelief among parents in response to a false‐positive screening test.
1.13
1.13. Analysis
Comparison 1 Screening versus non‐screening, Outcome 13 Confusion among parents in response to a false‐positive screening test.
1.14
1.14. Analysis
Comparison 1 Screening versus non‐screening, Outcome 14 Anger among parents in response to a false‐positive screening test.
See this image and copyright information in PMC

Update of

References

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