Title |
Diagnosis of Cystic Fibrosis in Screened Populations
|
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Published in |
Journal of Pediatrics, February 2017
|
DOI | 10.1016/j.jpeds.2016.09.065 |
Pubmed ID | |
Authors |
Philip M Farrell, Terry B White, Michelle S Howenstine, Anne Munck, Richard B Parad, Margaret Rosenfeld, Olaf Sommerburg, Frank J Accurso, Jane C Davies, Michael J Rock, Don B Sanders, Michael Wilschanski, Isabelle Sermet-Gaudelus, Hannah Blau, Silvia Gartner, Susanna A McColley |
Abstract |
Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening (NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS protocols, misunderstandings about screening vs diagnostic tests, and the lack of guidelines for presumptive diagnoses. There is also confusion regarding the designation of age at diagnosis. To improve diagnosis and achieve standardization in definitions worldwide, the CF Foundation convened a committee of 32 experts with a mission to develop clear and actionable consensus guidelines on diagnosis of CF with an emphasis on screened populations, especially the newborn population. A comprehensive literature review was performed with emphasis on relevant articles published during the past decade. After reviewing the common screening protocols and outcome scenarios, 14 of 27 consensus statements were drafted that apply to screened populations. These were approved by 80% or more of the participants. It is recommended that all diagnoses be established by demonstrating dysfunction of the CF transmembrane conductance regulator (CFTR) channel, initially with a sweat chloride test and, when needed, potentially with newer methods assessing membrane transport directly, such as intestinal current measurements. Even in babies with 2 CF-causing mutations detected via NBS, diagnosis must be confirmed by demonstrating CFTR dysfunction. The committee also recommends that the latest classifications identified in the Clinical and Functional Translation of CFTR project [http://www.cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Science communicators (journalists, bloggers, editors) | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 137 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 26 | 19% |
Student > Master | 13 | 9% |
Other | 12 | 9% |
Researcher | 11 | 8% |
Student > Doctoral Student | 11 | 8% |
Other | 28 | 20% |
Unknown | 36 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 50 | 36% |
Biochemistry, Genetics and Molecular Biology | 18 | 13% |
Nursing and Health Professions | 11 | 8% |
Agricultural and Biological Sciences | 5 | 4% |
Immunology and Microbiology | 2 | 1% |
Other | 15 | 11% |
Unknown | 36 | 26% |