ArticleEuropean journal of human genetics : EJHG2010
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 40 citations in OpenAlex.
- Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene.Journal of genetic counseling · 2018Trial
- Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.European journal of human genetics : EJHG · 2014Trial
- Cascade health service use in family members following genetic testing in children: a scoping literature review.European journal of human genetics : EJHG · 2021Article
- Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present.Italian journal of pediatrics · 2021Article
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening.Molecular genetics & genomic medicine · 2018Article
- Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening.Journal of community genetics · 2018Article
- A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- "Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.Journal of genetic counseling · 2015Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been previously described, and this study describes uptake by both parents and adult non-parent relatives in Victoria, Australia. Pedigrees were taken from parents of children who were born in 2000-2004 and diagnosed with CF. A total of 40 families were eligible for the study and 30 (75%) were recruited. In all, 716 non-parent relatives were identified from the pedigrees as eligible for carrier testing, and 82 (adjusted uptake percentage: 11.8%; 95% confidence interval 8.0-15.7) have had carrier testing by March 2009. On average, 2.7 non-parent relatives per family had CF carrier testing after diagnosis through NBS. The odds of being tested were greater for females than males (adjusted odds ratio 1.61; 95% confidence interval 1.11-2.33; P=0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38-11.24; P<0.001). Most relatives who undergo testing are tested immediately after the baby's diagnosis; however, some testing is undertaken up to 8 years later. These results indicate that in a clinical setting, the diagnosis of a baby with CF by NBS does not lead to carrier testing for the majority of the baby's non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.
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