Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Dankert-Roelse, J.E.; Bouva, Marelle J.; Jakobs, Bernadette S.; Janssens, Hettie M.; Groot, K.M. de Winter-de; Schönbeck, Yvonne; Gille, Johan J. P.; Gulmans, Vincent; Verschoof-Puite, Rendelien K; Schielen, Peter C. J. I.; Verkerk, P.H.

doi:10.1016/j.jcf.2018.07.008

Cited by 32 publications

(34 citation statements)

References 25 publications

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“…Beyond Ireland which has the highest incidence of CF in Europe (1:1353) [39], the incidence ranges from 1:2800 in the UK [38] to 1:10,000 in Russia [40] ( Figure 5). It is 1:2850 in Belgium [41], about 1:4500 in France [42], Germany [14], Italy [38,43,44], and Spain (where large regional variations are observed) [45], while it oscillates between 1:5200 and 1:6500 in Central Europe (Czech Republic [32], Denmark [46], Netherlands [47], Poland [48], Slovakia [49], and Sweden [50]). The incidence appears lower than 1:7000 in three European countries (Portugal [51], Norway [52], and Russia [40]) as well as in various regions of Spain [45].…”

Section: Europementioning

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: Europementioning

confidence: 99%

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

Scotet

Gutierrez

Farrell

2020

IJNS

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“…Este es el primer algoritmo que se usa en México y las experiencias nacionales e internacionales pueden contribuir a perfeccionarlo. 2,36,37 En otras regiones geográficas, parte de estos problemas se han resuelto mediante el fortalecimiento de la capacitación preanalítica, 27 con el uso de biomarcadores adicionales, sobre todo la biología molecular del gen CFTR y, más recientemente, la incorporación de la proteína asociada a pancreatitis (PAP), [38][39][40] y con el establecimiento de sistemas postanalíticos formales de seguimiento del tamiz neonatal. 26,28,37,41…”

Section: Discussionunclassified

Retos y oportunidades en la implementación del tamiz neonatal para fibrosis quística

et al. 2018

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INTRODUCCIÓN: La detección temprana de la fibrosis quística mediante tamiz neonatal tiene una repercusión clínica positiva; su implementación es compleja y no existe un protocolo universal para llevarla a cabo. La cuantificación del tripsinógeno inmunorreactivo es el inicio de todos los algoritmos actuales de tamiz neonatal.OBJETIVO: Reportar los resultados preliminares de la aplicación de un algoritmo de tamiz neonatal para fibrosis quística en la Secretaría de Salud de México.MATERIAL Y MÉTODOS: Estudio retrospectivo de los resultados de la aplicación de un algoritmo de tamiz neonatal consistente en la cuantificación del tripsinógeno inmunorreactivo (IRT/IRT) seguida de la prueba del sudor para la detección de fibrosis quística en el marco del programa de tamiz metabólico neonatal de la Secretaría de Salud de México.RESULTADOS: Se obtuvieron 1,267,122 muestras aptas para el procesamiento bioquímico de sangre en papel filtro de 1,273,727 recién nacidos; 3,216 muestras resultaron con valores sanguíneos de tripsinógeno inmunorreactivo superiores al percentil 99.5. Solo en 54% de los casos se logró tomar la segunda muestra de tripsinógeno inmunorreactivo en el tiempo adecuado y se practicaron 1,787 pruebas de sudor. Se identificaron 202 casos altamente sugestivos de fibrosis quística (1:6,273 recién nacidos) que se enviaron para seguimiento médico. La gran cantidad de muestras extemporáneas favoreció el gran número de pruebas del sudor. Estos resultados permiten identificar las principales dificultades que enfrenta la implementación de este tamiz mediante el algoritmo IRT/IRT/ST.CONCLUSIÓN: La incorporación de este primer algoritmo de detección de fibrosis quística al programa de tamiz neonatal en México representa un logro, susceptible de perfección.PALABRAS CLAVE: Tamiz neonatal; fibrosis quística; CFTR; tripsinógeno inmunoreactivo; IRT.

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“…One of the concerns about expanding CFTR panels beyond the previously common 23 CF-causing variants [60] has been the increase in incidental findings, particularly heterozygous infants, i.e., false positives with high IRT levels, one CFTR variant, and negative sweat tests. The PPV of the IRT/DNA test ranges from about 10% to 63% depending on the algorithm and the number of CFTR variants in the panel [61]. Detecting up to 10 carriers for every CF case diagnosed has been disconcerting for some, while others consider this an added benefit of CF NBS.…”

Section: Incidental Findings and Implications Of Emerging Data For Gementioning

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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Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Cited by 32 publications

References 25 publications

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

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

Retos y oportunidades en la implementación del tamiz neonatal para fibrosis quística

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

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