Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

Coffey, Michael J.; Whitaker, Viola; Gentin, Natalie; Junek, Rosie; Shalhoub, Carolyn; Nightingale, S. L.; Hilton, Jodi; Wiley, Veronica; Wilcken, Bridget; Gaskin, Kevin; Ooi, Chee Y.

doi:10.1016/j.jpeds.2016.10.045

Cited by 58 publications

(59 citation statements)

References 56 publications

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“…Implementation of newborn screening (NBS) has increased widely, because of proven nutritional benefits, improved pulmonary outcome and survival . Identification of elevated immunoreactive trypsinogen (IRT) is the first step defining a positive screen and, in most algorithms, precedes cystic fibrosis transmembrane conductance regulator ( CFTR ) mutation analysis and diagnostic sweat testing.…”

Section: Introductionmentioning

confidence: 99%

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

Munck

Bourmaud

Bellon

et al. 2020

Pediatric Pulmonology

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Objective To characterize the phenotypic expression of children with conductance regulator‐related metabolic syndrome (CRMS)/cystic fibrosis screen positive inconclusive diagnosis (CFSPID) designation after positive newborn screening, reassign labeling if applicable and better define these children's prognosis. Methods A multicenter cohort with CRMS/CFSPID designation was matched with cystic fibrosis (CF)‐diagnosed cohort. Cohorts were prospectively compared on baseline characteristics, cumulative data and when they reached 6 to 7 years at endpoint assessment. Results Compared to infants with CF (n = 63), the CRMS/CFSPID cohort (n = 63) had initially lower immunoreactive trypsinogen (IRT) and sweat chloride (SC) values, delayed visits, less symptoms, and better nutritional status; during follow‐up, they had fewer hospitalizations, Pseudomonas aeruginosa and methicillin‐resistant Staphylococcus aureus identification, CF comorbidities, and treatment burden. At endpoint assessment, they presented a milder pulmonary phenotype on Brody computed tomography scores (0.0[0.0; 2.0] vs 13[2.0; 31.0]; P < .0001, respectively), Wisconsin and Brasfield chest radiograph scores, pulmonary function tests, and improved nutritional status. Among the inconclusive CF diagnosis cohort, 28 cases (44%) converted to CF diagnosis based on genotype (44%), SC (28%) or both (28%); yet, comparing those with or without final CF diagnosis, we found no differences, possibly related to their young age and mild degree of lung disease. In the total cohort, we found significant associations between Brody scores and IRT, SC values, genotype, Wisconsin and Brasfield score and spirometry. Conclusions The matched CRMS/CFSPID and CF cohorts showed differences in outcomes. By a mean age of 7.6 years, a high proportion of the CRMS/CFSPID cohort converted to CF. Our results highlight that monitoring at CF clinics until at least 6 years is needed as well as further studies.

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Section: Introductionmentioning

confidence: 99%

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

Munck

Bourmaud

Bellon

et al. 2020

Pediatric Pulmonology

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“…This approach remains controversial because half of the infants born in the state were randomized to not have their results revealed, rather they came to attention through the development of symptoms. In spite of some complications related to earlier exposure to pathogens in infants brought into regular CF clinics in the first months of life, the study was able to clearly show the benefits of early screening on nutritional outcomes, and later improved respiratory outcomes (Coffey et al, 2017;Collins et al, 2008), primarily due to improved early nutrition. The result, despite the controversy, was the clear demonstration of the effectiveness of NBS for CF.…”

Section: The Value Of Pilot Studiesmentioning

confidence: 88%

Mandatory newborn screening in the United States: History, current status, and existential challenges

McCandless

Wright

2020

Birth Defects Research

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Beginning in the 1960s, mandatory newborn screening (NBS) of essentially all infants has been a major public health success story. NBS is not just a blood test, rather, it is a complex, integrated system that begins with timely testing, scrupulous follow up of patients, tracking of outcomes, quality improvement of all aspects of the process, and education of providers, staff, and parents. In the past, expansion of NBS programs has been driven by new testing technology, but now is increasingly driven by the development of novel therapeutics and political advocacy. Each state determines how the NBS system will be structured in that state, but there is increasing oversight and support for harmonization at a federal level. Several recent initiatives, together with the increased number of conditions screened and the concomitant increase in burdensome false‐positive tests, are creating new scrutiny of NBS systems, and potentially pose an existential risk to the public acceptance of mandatory NBS. The history, current state and challenges for NBS are explored in this issue, with some suggestions as to how to address them.

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“…Existen reportes que demuestran que la detección temprana de la fibrosis quística mediante tamiz neonatal tiene un efecto positivo en los resulta-dos clínicos a corto y largo plazo. 4,[11][12][13][14] Existen diversas guías para la implementación de ese tamiz. [15][16][17][18] Lo anterior ha conducido, desde hace más de tres décadas, a que diferentes programas de tamiz neonatal incorporen la detección de fibrosis quística, sobre todo en Europa y Estados Unidos.…”

Section: Tamiz Neonatal Para Fibrosis Quísticaunclassified

“…3 En población hispana de California, la prevalencia al nacimiento es de 1:9,259 recién nacidos. 4,5 La fibrosis quística se debe a defectos en el gen CFTR (por sus siglas en inglés cystic fibrosis transmembrane conductance regulator) ubicado en el brazo largo del cromosoma 7 y cuyo producto génico es la proteína CFTR. El funcionamiento defectuoso de este gen altera el transporte de cloro y sodio en las células secretoras epiteliales, que se expresan en diversos órganos de la economía corporal que originan que las secreciones se tornen viscosas, se deshidraten y que contribuyan a las diversas manifestaciones según el órgano diana afectado.…”

Section: Introduciónunclassified

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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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Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era

Abstract: LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.

Cited by 58 publications

References 56 publications

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

Mandatory newborn screening in the United States: History, current status, and existential challenges

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

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