TY - BOOK ID - 134781820 TI - Newborn Screening for Cystic Fibrosis AU - Barben, Jürg AU - Southern, Kevin PY - 2020 PB - Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute DB - UniCat KW - newborn screening KW - immunoreactive trypsin(ogen) KW - dried blood spot KW - radioimmunoassay KW - DNA KW - cystic fibrosis KW - incidence KW - malnutrition KW - cost KW - health policy KW - CF transmembrane conductance regulator-related metabolic syndrome KW - CF screen positive KW - inconclusive diagnosis KW - DNA analysis KW - next generation sequencing KW - extended genetic analysis KW - presumptive diagnosis KW - sweat test KW - parental information KW - newborn bloodspot screening KW - psychological impact KW - biochemical screening KW - pancreatitis associated protein KW - immunoreactive trypsinogen KW - cystic fibrosis screen positive KW - inconclusive diagnosis (CFSPID) KW - bioethics KW - newborn screen KW - target disorder KW - missed case KW - sensitivity KW - CFSPID KW - immunoreactive trypsin KW - meconium ileus KW - diagnosis KW - therapy KW - prognosis KW - n/a UR - https://www.unicat.be/uniCat?func=search&query=sysid:134781820 AB - 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. ER -