ArticleArchives of disease in childhood2003
Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H.
Article in Archives of disease in childhood, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- A systematic review of the effects of disclosing carrier results generated through newborn screening.Journal of genetic counseling · 2008Pooled it
- Non-pulmonary CFTR-related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis.Respirology case reports · 2023Article
- The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.The Clinical biochemist. Reviews · 2005Article
- Decision making with uncertain information: learning from women in a high risk breast cancer clinic.Journal of genetic counseling · 2004Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 mutation analysis performed in case they are also a carrier. One of the mutations in the extended analysis is R117H which is associated with a broad phenotypic range, from CF with suppurative lung disease, to no clinical disease. We present four healthy DeltaF508 carrier babies identified by our NBS service with both parents identified as carriers, one DeltaF508 and the other R117H. Owing to the variable phenotype associated with R117H we have developed an approach to this difficult genetic counselling situation. Centres offering or considering NBS for CF will need an approach to this problem.
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