Newborn Screening for Cystic Fibrosis

The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world. It represents a paradigm shift in the diagnostic pathway for these families. In contrast...

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Bibliographic Details
Other Authors: Barben, Jürg (Editor), Southern, Kevin (Editor)
Format: Electronic Book Chapter
Language:English
Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
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DOAB: description of the publication
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520 |a The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibrosis (CF) has offered earlier diagnosis and better outcomes for children with CF in many countries of the world. It represents a paradigm shift in the diagnostic pathway for these families. In contrast to a clinical diagnosis, infants are now referred for diagnostic testing after a positive NBS result. The introduction of NBS has enabled the provision of early appropriate treatment to prevent the manifestations of the disease. In the near future, early diagnosis will facilitate the prompt use of new CFTR modulator therapies that correct the basic underlying molecular defect. NBS for CF has been a global success but continues to raise questions with many varied approaches and the development of new technologies, in particular the ability to undertake extensive gene examination. Which is the best protocol to achieve high sensitivity and specificity, and how to evaluate and manage infants with inconclusive diagnosis are all subjects of ongoing discussion. It is also open to question: what is the best approach to informing and counselling the parents about a positive or inconclusive NBS result? These questions are not easy to answer and require a balanced solution that reflects the local health care system and may appropriately result in different answers around the globe. The articles in this book try to answer these questions and give an overview of the current state of knowledge in NBS for CF. 
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653 |a newborn screening 
653 |a immunoreactive trypsin(ogen) 
653 |a dried blood spot 
653 |a radioimmunoassay 
653 |a DNA 
653 |a cystic fibrosis 
653 |a incidence 
653 |a malnutrition 
653 |a cost 
653 |a health policy 
653 |a CF transmembrane conductance regulator-related metabolic syndrome 
653 |a CF screen positive 
653 |a inconclusive diagnosis 
653 |a DNA analysis 
653 |a next generation sequencing 
653 |a extended genetic analysis 
653 |a presumptive diagnosis 
653 |a sweat test 
653 |a parental information 
653 |a newborn bloodspot screening 
653 |a psychological impact 
653 |a biochemical screening 
653 |a pancreatitis associated protein 
653 |a immunoreactive trypsinogen 
653 |a cystic fibrosis screen positive 
653 |a inconclusive diagnosis (CFSPID) 
653 |a bioethics 
653 |a newborn screen 
653 |a target disorder 
653 |a missed case 
653 |a sensitivity 
653 |a CFSPID 
653 |a immunoreactive trypsin 
653 |a meconium ileus 
653 |a diagnosis 
653 |a therapy 
653 |a prognosis 
653 |a n/a 
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