Newborn Screening for Cystic Fibrosis

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: Book Chapter
Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
Subjects:
Medicine
newborn screening
immunoreactive trypsin(ogen)
dried blood spot
radioimmunoassay
DNA
cystic fibrosis
incidence
malnutrition
cost
health policy
CF transmembrane conductance regulator-related metabolic syndrome
CF screen positive
inconclusive diagnosis
DNA analysis
next generation sequencing
extended genetic analysis
presumptive diagnosis
sweat test
parental information
newborn bloodspot screening
psychological impact
biochemical screening
pancreatitis associated protein
immunoreactive trypsinogen
cystic fibrosis screen positive
inconclusive diagnosis (CFSPID)
bioethics
newborn screen
target disorder
missed case
sensitivity
CFSPID
immunoreactive trypsin
meconium ileus
diagnosis
therapy
prognosis
n/a
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