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Article

Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H.

Archives of disease in childhood - 1 Oct 2003

Curnow L, Savarirayan R, Massie J

Abstract excerpt

Newborn screening (NBS) for cystic fibrosis (CF) has been carried out in Victoria, Australia since 1989. The primary screen is immunoreactive trypsinogen (IRT) followed by DeltaF508 mutation analysis. As part of this process, carrier babies are detected and their parents are routinely offered carrier testing as part of their follow up. The DeltaF508 parent is identified and the other parent has an extended...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14500307
DOI: 10.1136/adc.88.10.886
PMCID: PMC1719305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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