| Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. | |
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MedLine Citation:
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PMID: 2043846 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To assess the effectiveness of a two tier neonatal screening strategy for cystic fibrosis, which combines estimation of immunoreactive trypsinogen followed by direct gene analysis in dried blood spot samples collected at age 5 days. DESIGN: Prospective study of two tier screening strategy. The first tier of testing immunoreactive trypsinogen concentration was measured in dried blood spot samples from neonates aged 4-5 days. In the second tier direct gene analysis to detect cystic fibrosis mutations deltaF508 and deltaI506 was performed in those blood spot samples which produced the highest 1% of immunoreactive trypsinogen values. Direct gene analysis was also performed on blood spot samples from infants with suspected or confirmed meconium ileus, regardless of the immunoreactive trypsinogen value. SETTING: The South Australian Neonatal Screening Programme, operating from the department of chemical pathology at Adelaide Children's Hospital. Subjects--All 12,056 neonates born in South Australia between December 1989 and June 1990. No selection criteria were applied. INTERVENTIONS: All infants found to have two recognised cystic fibrosis mutations on direct gene analysis were referred directly for clinical management, and those with one recognised cystic fibrosis mutation were recalled for a sweat test; their families were given genetic counselling. MAIN OUTCOME MEASURES: Direct or exclusion of cystic fibrosis by sweat testing of neonates identified as being at high risk of cystic fibrosis on screening and of those at minimum risk but whose subsequent clinical history raised suspicion about the disease. RESULTS: Of the 12,056 infants screened, 11,907 (98.8%) were reported as "cystic fibrosis not indicated" on the basis of low immunoreactive trypsinogen values. Of the 148 (1.23%) infants with raised immunoreactive trypsinogen values and one (0.008%) with meconium ileus, 132 (1.09%) were reported as cystic fibrosis not indicated, four (0.033%) were identified as having cystic fibrosis, and 13 (0.108%) were recalled for sweat testing after direct gene analysis for the presence of the deltaF508 and deltaI506 cystic fibrosis mutations. No cases of affected infants are known to have been missed to date. CONCLUSION: The strategy of measurement of immunoreactive trypsinogen followed by direct gene analysis is a highly specific neonatal screen for cystic fibrosis, requiring only 2.8 families to be contacted for every case of cystic fibrosis diagnosed. |
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Authors:
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E Ranieri; R G Ryall; C P Morris; P V Nelson; W F Carey; A C Pollard; E F Robertson |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: BMJ (Clinical research ed.) Volume: 302 ISSN: 0959-8138 ISO Abbreviation: BMJ Publication Date: 1991 May |
Date Detail:
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Created Date: 1991-07-16 Completed Date: 1991-07-16 Revised Date: 2010-03-24 |
Medline Journal Info:
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Nlm Unique ID: 8900488 Medline TA: BMJ Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1237-40 Citation Subset: AIM; IM |
Affiliation:
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Department of Chemical Pathology, Adelaide Children's Hospital, South Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cystic Fibrosis
/
blood,
genetics,
prevention & control* DNA Mutational Analysis* Female Humans Infant, Newborn Male Mutation Neonatal Screening / methods* Prospective Studies South Australia Trypsinogen / blood*, immunology |
| Chemical | |
Reg. No./Substance:
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9002-08-8/Trypsinogen |
| Comments/Corrections | |
Comment In:
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BMJ. 1991 Jul 6;303(6793):56
[PMID:
1859967
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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