Test Strip Meconium Screening for Cystic Fibrosis

Bruns, W

doi:10.1001/archpedi.1977.02120140073013

Cited by 6 publications

(4 citation statements)

References 6 publications

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“…The requirements that must be addressed to implement and maintain a successful NBS program for CF are listed in Table 1. Although attempts to achieve early diagnosis of CF through meconium tests were organized during the 1970s [2], NBS first became feasible on a population scale in 1979 when dried blood spots were analyzed for immunoreactive trypsinogen (IRT) in New Zealand by Crossley et al [3]. Through retrospective assessment, they found that high IRT levels revealed a significant risk for CF.…”

Section: Feasibility Of Screening Newborns For Cfmentioning

confidence: 99%

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Scotet

Gutierrez

Farrell

2020

IJNS

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Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially fatal disorder. Each region has typically undertaken CF NBS after analysis of the advantages, costs, and challenges, particularly regarding the relationship of benefits to risks. The very fact that all regions that began screening for CF have continued their programs implies that public health and clinical leaders consider early diagnosis through screening to be worthwhile. Currently, many regions where CF NBS has not yet been introduced are considering options and in some situations negotiating with healthcare authorities as policy and economic factors are being debated. To consider the assigned question (where is it worthwhile?), we have completed a worldwide analysis of data and factors that should be considered when CF NBS is being contemplated. This article describes the lessons learned from the journey toward universal screening wherever CF is prevalent and an analytical framework for application in those undecided regions. In fact, the lessons learned provide insights about what is necessary to make CF NBS worthwhile.

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Section: Feasibility Of Screening Newborns For Cfmentioning

confidence: 99%

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Scotet

Gutierrez

Farrell

2020

IJNS

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“…Two early methods for measuring protein (albumin) in meconium were available. The BM strip (Boehringer-Mannheim) was a colorimetric assay test strip designed to be used in the nursery setting to measure protein levels in meconium [15,16]. This method did not prove to be useful, as there were technical issues related to user experience and interpretation of the test and which resulted in considerable unreliability.…”

Section: Introductionmentioning

confidence: 99%

“…The low sensitivity (between 30% and 75%) and positive predictive value (1:12-1:100) of the test, despite satisfactory specificity, made this test imperfect for mass screening [17]. Numerous false-positive results from bloody meconium (melena), prematurity, intrauterine infection, and some forms of neonatal intestinal obstruction [16], and false negative results due to pancreatic sufficiency and sample degradation during transport occurred [18]. This method was also unable to detect milder degrees of pancreatic disease.…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening for Cystic Fibrosis

Sharp

Rock

2008

Clinic Rev Allerg Immunol

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Newborn screening (NBS) for cystic fibrosis (CF) has evolved considerably from its beginnings. We review the early history of NBS in the USA and the evolution of CF NBS from its conception in observational studies, to the development of mass-screening methodology in the 1970s, and to its early applications in the USA and other countries. We review the development of current CF NBS algorithms, particularly the development of those used in the Wisconsin randomized controlled trial, and discuss the comparative utility of different algorithms. We also discuss the identified nutritional and respiratory benefits of CF NBS, discuss treatment strategies for newborns identified with CF, and also discuss opportunities for slowing the progression of this disease.

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“…Early NBS attempts using meconium, however, failed feasibility assessment [7]. Fortunately, the use of dried blood spot screening, which was immediately successful for phenylketonuria [8], became attractive for CF when Crossley et al [9] discovered in New Zealand that high immunoreactive trypsinogen (IRT) levels predicted a higher risk for CF.…”

Section: Introductionmentioning

confidence: 99%

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

Farrell

Rock

Baker

2020

Genes

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Discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was the long-awaited scientific advance that dramatically improved the diagnosis and treatment of cystic fibrosis (CF). The combination of a first-tier biomarker, immunoreactive trypsinogen (IRT), and, if high, DNA analysis for CF-causing variants, has enabled regions where CF is prevalent to screen neonates and achieve diagnoses within 1–2 weeks of birth when most patients are asymptomatic. In addition, IRT/DNA (CFTR) screening protocols simultaneously contribute important genetic data to determine genotype, prognosticate, and plan preventive therapies such as CFTR modulator selection. As the genomics era proceeds with affordable biotechnologies, the potential added value of whole genome sequencing will probably enhance personalized, precision care that can begin during infancy. Issues remain, however, about the optimal size of CFTR panels in genetically diverse regions and how best to deal with incidental findings. Because prospects for a primary DNA screening test are on the horizon, the debate about detecting heterozygote carriers will likely intensify, especially as we learn more about this relatively common genotype. Perhaps, at that time, concerns about CF heterozygote carrier detection will subside, and it will become recognized as beneficial. We share new perspectives on that issue in this article.

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Test Strip Meconium Screening for Cystic Fibrosis

Cited by 6 publications

References 6 publications

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

Newborn Screening for Cystic Fibrosis

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

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