Newborn screening for cystic fibrosis

Castellani, C, Massie, J, Sontag, M and Southern, KW ORCID: 0000-0001-6516-9083 (2016) Newborn screening for cystic fibrosis. The Lancet Respiratory Medicine, 4 (8). pp. 653-661.

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Abstract

Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first recognised, the performance of newborn blood spot screening (NBS) has been continually assessed and its use has gradually expanded. NBS for cystic fibrosis is a cost-effective strategy and, if standards of care are fully implemented and robust management pathways are in place, has a positive effect on clinical outcomes. In the past decade, NBS has undergone rapid expansion and an unprecedented number of infants with cystic fibrosis have access to early diagnosis and care. Cystic fibrosis NBS has now moved on from the development phase and is entering an era of consolidation. In the future, research should focus on the rationalisation and optimisation of existing programmes, with particular attention to bioethical implications such as unwanted detection of carriers and inconclusive diagnoses.

Item Type:	Article
Additional Information:	Journal Article Review England## TULIP Type: Articles/Papers (Journal) ##
Uncontrolled Keywords:	cystic fibrosis, *diagnosis, humans, infant, newborn, *neonatal screening, quality of life, randomized controlled trials as topic, survival analysis
Depositing User:	Symplectic Admin
Date Deposited:	01 Feb 2017 10:51
Last Modified:	19 Jan 2023 07:20
DOI:	10.1016/S2213-2600(16)00053-9
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3005197