LEADER 03915nam 2200817z- 450 001 9910557291703321 005 20210501 035 $a(CKB)5400000000041122 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/69072 035 $a(oapen)doab69072 035 $a(EXLCZ)995400000000041122 100 $a20202105d2020 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aNewborn Screening for Cystic Fibrosis 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2020 215 $a1 online resource (126 p.) 311 08$a3-03936-990-3 311 08$a3-03936-991-1 330 $aThe 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. 606 $aMedicine$2bicssc 610 $abiochemical screening 610 $abioethics 610 $aCF screen positive 610 $aCF transmembrane conductance regulator-related metabolic syndrome 610 $aCFSPID 610 $acost 610 $acystic fibrosis 610 $acystic fibrosis screen positive 610 $adiagnosis 610 $aDNA 610 $aDNA analysis 610 $adried blood spot 610 $aextended genetic analysis 610 $ahealth policy 610 $aimmunoreactive trypsin 610 $aimmunoreactive trypsin(ogen) 610 $aimmunoreactive trypsinogen 610 $aincidence 610 $ainconclusive diagnosis 610 $ainconclusive diagnosis (CFSPID) 610 $amalnutrition 610 $ameconium ileus 610 $amissed case 610 $an/a 610 $anewborn bloodspot screening 610 $anewborn screen 610 $anewborn screening 610 $anext generation sequencing 610 $apancreatitis associated protein 610 $aparental information 610 $apresumptive diagnosis 610 $aprognosis 610 $apsychological impact 610 $aradioimmunoassay 610 $asensitivity 610 $asweat test 610 $atarget disorder 610 $atherapy 615 7$aMedicine 700 $aBarben$b Ju?rg$4edt$01293814 702 $aSouthern$b Kevin$4edt 702 $aBarben$b Ju?rg$4oth 702 $aSouthern$b Kevin$4oth 906 $aBOOK 912 $a9910557291703321 996 $aNewborn Screening for Cystic Fibrosis$93022739 997 $aUNINA