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Refinement of newborn screening for cystic fibrosis with next generation sequencing

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Newborn screening for cystic fibrosis (CF) has been underway universally in the United States for more than a decade, as well in most European countries, and algorithms have been evolving… Click to show full abstract

Newborn screening for cystic fibrosis (CF) has been underway universally in the United States for more than a decade, as well in most European countries, and algorithms have been evolving throughout this period with quality improvement projects as immunoreactive trypsinogen (IRT) determinations alone have been transformed to a 2‐tier strategy with DNA analyses.

Keywords: refinement newborn; screening cystic; fibrosis next; newborn screening; cystic fibrosis

Journal Title: Pediatric Pulmonology
Year Published: 2022

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