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• W2023455536 abstract "Neonatal screening for cystic fibrosis based on immunoreactive trypsin in dried blood spots detects approximately 90% of cases with severe disease. Milder forms of cystic fibrosis transmembrane regulator dysfunction are likely to be missed. A second blood sample is required from at least 0.5% of babies if screening is based on immunoreactive trypsin alone but this may be avoided by analysing for the ΔF508 cystic fibrosis mutation instead. DNA-based screening raises other problems, however. There are definite short-term benefits from neonatal screening for cystic fibrosis and increasing evidence that it reduces morbidity in the longer term. Neonatal screening for cystic fibrosis based on immunoreactive trypsin in dried blood spots detects approximately 90% of cases with severe disease. Milder forms of cystic fibrosis transmembrane regulator dysfunction are likely to be missed. A second blood sample is required from at least 0.5% of babies if screening is based on immunoreactive trypsin alone but this may be avoided by analysing for the ΔF508 cystic fibrosis mutation instead. DNA-based screening raises other problems, however. There are definite short-term benefits from neonatal screening for cystic fibrosis and increasing evidence that it reduces morbidity in the longer term. The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk The most important references are denoted by an asterisk" @default.
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• W2023455536 title "Neonatal screening for cystic fibrosis" @default.
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