Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians

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Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians.

During the past decade, newborn screening (NBS) for cystic fibrosis (CF) has disseminated worldwide after endorsements by the Centers for Disease Control and Prevention and the CF Foundation. Similar to widespread introduction of other NBS programs, CF NBS implementation occurred on a region-by-region basis by using a wide variety of screening strategies and analytical methods. All strategies b...

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Newborn Screening for Cystic Fibrosis in California.

OBJECTIVES This article describes the methods used and the program performance results for the first 5 years of newborn screening for cystic fibrosis (CF) in California. METHODS From July 16, 2007, to June 30, 2012, a total of 2,573,293 newborns were screened for CF by using a 3-step model: (1) measuring immunoreactive trypsinogen in all dried blood spot specimens; (2) testing 28 to 40 select...

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Access to Primary Care and Subspecialty Care After Positive Cystic Fibrosis Newborn Screening.

PROBLEM CONSIDERED Accessibility by telephone to cystic fibrosis (CF) centers for a diagnostic sweat test appointment from a parental perspective—which can be stressful—compared to experience in contacting a general pediatrics practice in the same area. METHODS We called each CF center and affiliate twice, plus a sample of multiphysician general pediatrics practices selected from yellowpages....

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Feature: Newborn Screening for Cystic Fibrosis

Cystic Fibrosis is an autosomal recessive disease affecting the exocrine glands of the lung, liver, pancreas and intestines. It leads to a diverse range of clinical problems. Although most patients have multiple organs involved, pulmonary disease is the principal cause of both morbidity and mortality in the majority of patients. Cystic Fibrosis is the result of abnormalities in the gene that co...

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Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.

In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF). This report describes new research findings and outlines the recommendations of the workshop. The peer-reviewed evidence presented at the workshop supports the clinical utility of newborn screening for CF. Demonstrated long-...

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ژورنال

عنوان ژورنال: PEDIATRICS

سال: 2015

ISSN: 0031-4005,1098-4275

DOI: 10.1542/peds.2015-3490