Screening for cystic fibrosis by examination of meconium

Prosser, Ruth; Owen, H.; Bull, Frances E.; Parry, Blair A.; Smerkinich, J.; Goodwin, H. A.; Dathan, J. R. E.

doi:10.1136/adc.49.8.597

Cited by 44 publications

(19 citation statements)

References 7 publications

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“…The first European experiences in cystic fibrosis (CF) newborn screening (NBS) date back to the early nineteen seventies, with pioneering programmes examining the albumin content of meconium [1]. The elevation of immunoreactive trypsin (IRT) in the blood of neonates with CF and its measurement in dried blood spots was first described in 1979 [2].…”

mentioning

confidence: 99%

European best practice guidelines for cystic fibrosis neonatal screening

Castellani

Southern

Brownlee

et al. 2009

Journal of Cystic Fibrosis

215

202

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There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits. In Europe more than 25 screening programmes have been developed, with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used. Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut. All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS programmes. Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families.

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mentioning

confidence: 99%

European best practice guidelines for cystic fibrosis neonatal screening

Castellani

Southern

Brownlee

et al. 2009

Journal of Cystic Fibrosis

215

202

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“…Even if the 10% rate is correct, this limitation in screening would have to be accepted for the recently described alternative test for meconium albumin (Prosser et al, 1974). If a false-negative rate of about 10% should prove eventually to exist, this would imply about 1 in 35 003 births, or 0-005 % of all births.…”

Section: Resultsmentioning

confidence: 99%

“…sweat salt concentrations) or lack specificity (gelatin digestion by stool). Recently meconium albumin concentration has been used (Prosser et al, 1974). When 'dipstix' techniques are used (e.g.…”

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confidence: 99%

See 1 more Smart Citation

Cystic fibrosis screening in the newborn.

Robinson¹,

Elliot²

1976

Archives of Disease in Childhood

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“…The performance of the strip test is simple and does not require excessive time, while the cost of the test is relatively inexpensive (40 cents per test). 3. Treatment should be available for children suffering from the detected inherited disease.…”

Section: Commentmentioning

confidence: 99%

Test Strip Meconium Screening for Cystic Fibrosis

Bruns¹

1977

Arch Pediatr Adolesc Med

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Screening for cystic fibrosis by examination of meconium

Cited by 44 publications

References 7 publications

European best practice guidelines for cystic fibrosis neonatal screening

European best practice guidelines for cystic fibrosis neonatal screening

Cystic fibrosis screening in the newborn.

Test Strip Meconium Screening for Cystic Fibrosis

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