Neonatal Screening for Cystic Fibrosis: Addition of Molecular Diagnostics to Increase Specificity

Spence, W. Christine; Paulusthomas, J.; Orenstein, David M.; Naylor, Edwin W.

doi:10.1006/bmmb.1993.1022

Cited by 35 publications

(17 citation statements)

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“…This is consistent with the higher immunoreactive trypsin concentrations found in~F508 heterozygotes at 4-6 days of age" and the increased frequency noted by Laroche and Traverr" and Lucotte and coworkers," and found by other programmes using the immunoreactive trypsin-DNA protocol.' [13][14][15][16][17] In the present study babies without cystic fibrosis who were hypertrypsinaemic at 6 days and heterozygous for~F508 also had, on average, higher immunoreactive trypsin concentrations in the 27 day blood sample than those without the mutation (table 1).…”

Section: Resultsmentioning

confidence: 71%

“…Babies without F508 are reported as normal, though some will have the disease. This immunoreactive trypsin-DNA two-stage screen, instituted by Ranieri er azt' 14 and now reported in other programmes,' [15][16][17][18] has the advantages of an earlier diagnosis in patients homozygous for F508 and of eliminating the need for a second blood sample. However, the increase in the number of unaffected babies given a sweat test seems to us to be a significant drawback of this approach.…”

Section: Subjects-437859 Babies Born Between August 1989 and March 1996mentioning

confidence: 99%

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Neonatal Screening for Cystic Fibrosis in the Trent Region (UK): Two-Stage Immunoreactive Trypsin Screening Compared with a Three-Stage Protocol with DNA Analysis as an Intermediate Step

Pollitt

Dalton²,

Evans³

et al. 1997

J Med Screen

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Objectives— To assess neonatal screening for cystic fibrosis using immunoreactive trypsin, either alone or in conjunction with DNA analysis for the AF508 mutation. A novel three-stage screening protocol was compared with the previously introduced two-stage immunoreactive trypsin-DNA protocol. Design— (a) Collection of data from a 41/2 year period (phase 1) of two-stage immunoreactive trypsin screening. The initial dried blood samples were obtained at 6 days of age and repeat samples at 27 days of age from babies with results above the 99.5th centile. Babies with persistent hypertrypsinaemia were referred for a diagnostic sweat test. (b) Retrospective DNA analysis: Patients with cystic fibrosis diagnosed in phase 1 were genotyped and most samples from babies with increased initial immunoreactive trypsin but normal results in the second sample were analysed for the δF508 mutation, (c) Phase 2, a prospective study of a three-stage neonatal screening protocol, in which only babies heterozygous for the δF508 cystic fibrosis mutation progressed to the second immunoreactive trypsin test. Setting— The Trent neonatal screening programme. Subjects— 437 859 babies born between August 1989 and March 1996. Main outcome measures— Proportions of unaffected babies requiring a second blood sample or a sweat test. Overall sensitivity for the detection of cystic fibrosis. Results— The two-stage screen failed to identify six out of 94 cases of cystic fibrosis (without meconium ileus). The introduction of the DNA analysis step would have resulted in one additional case being missed. With the three-stage screen there was a 92% reduction in babies requiring a second blood sample and an 80% reduction in negative sweat tests, results close to the predictions of the retrospective study. Conclusions— The three-stage screening protocol is a marked improvement on the two-stage immunoreactive trypsin strategy and on the two-stage immunoreactive trypsin-DNA strategy recently introduced in some other screening programmes.

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Section: Resultsmentioning

confidence: 71%

Section: Subjects-437859 Babies Born Between August 1989 and March 1996mentioning

confidence: 99%

Neonatal Screening for Cystic Fibrosis in the Trent Region (UK): Two-Stage Immunoreactive Trypsin Screening Compared with a Three-Stage Protocol with DNA Analysis as an Intermediate Step

Pollitt

Dalton²,

Evans³

et al. 1997

J Med Screen

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“…Advantages of DNA testing are that it can be undertaken on the original blood spot sample and can lead to the identification of two CF-causing mutations (Spence et al 1993;Gregg et al 1993;Larsen et al 1994). A potential disadvantage of DNA analysis is carrier recognition (Parsons et al 2003;Comeau et al 2004).…”

mentioning

confidence: 99%

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

et al. 2011

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“…Another test for CF is the sweat chloride test. A positive result with IRT and/ or sweat chloride test is confirmed by gene mutation analysis (Spence et al, 1993).…”

Section: Clinical Value Of Trypsinogen Determinationsmentioning

confidence: 91%

Human trypsinogens in the pancreas and in cancer

Itkonen

2010

Scandinavian Journal of Clinical and Laboratory Investigation

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Neonatal Screening for Cystic Fibrosis: Addition of Molecular Diagnostics to Increase Specificity

Cited by 35 publications

References 0 publications

Neonatal Screening for Cystic Fibrosis in the Trent Region (UK): Two-Stage Immunoreactive Trypsin Screening Compared with a Three-Stage Protocol with DNA Analysis as an Intermediate Step

Neonatal Screening for Cystic Fibrosis in the Trent Region (UK): Two-Stage Immunoreactive Trypsin Screening Compared with a Three-Stage Protocol with DNA Analysis as an Intermediate Step

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

Human trypsinogens in the pancreas and in cancer

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