Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis

Mérelle, M. E.; Scheffer, Hans; Jong, Debora de; Dankert-Roelse, J.E.

doi:10.1080/08035250600781846

Cited by 10 publications

(8 citation statements)

References 13 publications

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“…The sensitivity of IRT in the French nationwide NBSCF programme among 2.7 million infants was 95.6% at 60 μg/l (95%-CI 93.3-97.1% [12]. In CHOPIN, we found a sensitivity for IRT of 100% (95%-CI 80-100%) [3].…”

Section: Specificity and Sensitivitymentioning

confidence: 60%

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Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Ploeg

Marle

Langen

et al. 2015

Journal of Cystic Fibrosis

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Section: Specificity and Sensitivitymentioning

confidence: 60%

“…Base [3] in the CHOPIN study among 145,499 newborns in The Netherlands [4]. The current study assessed the cost-effectiveness of four screening strategies, i.e.…”

Section: Model Parametermentioning

confidence: 99%

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Ploeg

Marle

Langen

et al. 2015

Journal of Cystic Fibrosis

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“…In this approach the screening test is only positive when two mutations are identified 8. In California a comparable screening protocol has been in use since 2007, but infants with a single mutation are also referred for a sweat test 9…”

Section: Introductionmentioning

confidence: 99%

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Langen¹,

Loeber

Elvers

et al. 2012

Thorax

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Context Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as falsepositive tests, equivocal diagnosis and detection of carriers.Objective To assess the test performance of two newborn screening strategies for CF. Design, setting and participants In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of the Netherlands.Interventions Two strategies were performed in all newborns. In the first strategy, concentrations of immunoreactive trypsinogen (IRT) and pancreatitisassociated protein (PAP) were measured. In the second method, samples with IRT $60 mg/litre were analysed for 36 CFTR mutations, followed by sequencing when a single mutation was detected. Tests were positive only with two identified CFTR mutations. Main outcome Sensitivity, specificity and positive predictive value (PPV) of both screening strategies. Results 145 499 infants were screened. The IRT/PAP approach showed a sensitivity of 95.0%, a specificity of 99.897% and a PPV of 12.3%. Test properties for the IRT/ DNA/sequencing strategy were respectively 100%, 100% and 64.9%. Combining both strategies (IRT/PAP/ DNA/sequencing) led to a sensitivity of 95.0%, a specificity of 100% and a PPV of 87.5%.

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“…On a different tack, the randomized controlled trial of screening in Wisconsin first used a strategy in which an elevated IRT with rather a high cut-off led immediately to a sweat test (IRT strategy, Rock et al 1990). Another proposed strategy employs an IRT/ multiple DNA test, with the addition of an extended mutation analysis for samples where only one mutation has been found (Merelle et al 2006). The apparent benefits and drawbacks of these different approaches are shown in Table 1.…”

Section: Strategies For Cf Screeningmentioning

confidence: 98%

Newborn screening for cystic fibrosis: Techniques and strategies

Wilcken

2007

J of Inher Metab Disea

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Newborn screening for cystic fibrosis has been carried out for over 25 years, and clinical and cost benefits have been documented. There is still much variation in the methods and strategies adopted. All current screening programmes use a measurement of immunoreactive trypsin as a primary screening test, and in most, a second tier test involves analysing DNA mutations. The choice of DNA mutations depends on the genetic background in the region, and considerations of cost. Using DNA analysis as part of a screening procedure has introduced unwanted carrier detection, and protocols have now been devised in an attempt to avoid this. There are at least seven distinct protocols in use, all of which have different advantages and disadvantages, and no method or strategy will suit every region. Further careful study of performance and costs of various strategies is needed.

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Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis

Cited by 10 publications

References 13 publications

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Newborn screening for cystic fibrosis: Techniques and strategies

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