Newborn Screening for Cystic Fibrosis

• Outros Autores: Barben, Jürg (Editor), Southern, Kevin (Editor)
• Formato: Recurso Eletrônico Capítulo de Livro
• Idioma: inglês
• Publicado em: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
• Assuntos: 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
• Acesso em linha: DOAB: download the publication; DOAB: description of the publication

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...