Psychosocial issues in newborn screening for cystic fibrosis

Parsons, Evelyn; Bradley, Don M.

doi:10.1016/s1526-0542(03)00086-1

Cited by 33 publications

(39 citation statements)

References 38 publications

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“…13 Some babies who are CF carriers will be detected; exploration of the effect of carrier detection through NBS has been previously reported. [14][15][16] After a diagnosis of CF through NBS, parents are offered an intensive education program through the CF clinic at the Royal Children's Hospital, Melbourne. 17 During this time, they have the opportunity to see a genetic counsellor who discusses the implications of the diagnosis for subsequent pregnancies and the availability of cascade carrier testing for family members.…”

Section: Materials and Methods Settingmentioning

confidence: 99%

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

et al. 2010

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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; P¼0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38-11.24; Po0.001). 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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Section: Materials and Methods Settingmentioning

confidence: 99%

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

et al. 2010

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“…Studies have demonstrated that psychosocial sequelae of falsepositive NBS results can occur, including those resulting from CF-carrier identification. 69,70 Genetic counseling promotes understanding of the results and offers parents an important venue for psychosocial support and for addressing implications regarding reproductive choices for themselves and other family members. 71 Some states ensure that parents of screen-positive newborns have access to genetic counseling at CF care centers on the day of the sweat test.…”

Section: Genetic Counselingmentioning

confidence: 99%

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

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“…21,26,28,30,41 Some parents also support screening for conditions that do not require immediate treatment (hereditary hemochromatosis 23 and hereditary breast and ovarian cancer 27 ), for which the benefits of asymptomatic treatment are uncertain (cystic fibrosis 22,27,30,36,38,45 ), or for which no treatment is available (Duchenne muscular dystrophy 10,26,30,31,37,44 ). However, some parents feel that screening for untreatable conditions should be voluntary.…”

Section: Parental Attitudes Toward Newborn Screeningmentioning

confidence: 99%

“…47 Most studies, however, found little long-term difference in parental depression, 45 anxiety, well-being, or rejection or protection between parents of children with false-positive results and those of children with normal results. 38 Parents' stress was reduced when they received better information. 37,45,47 …”

Section: Religious Faithmentioning

confidence: 99%

Developing a Conjoint Analysis Survey of Parental Attitudes Regarding Voluntary Newborn Screening

Whitehead¹,

Brown²,

Layton³

2010

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Newborn screening for genetic conditions is conducted in all 50 states, but parents' opinions of such screening are largely unknown. As newborn screening has expanded from a few relatively common conditions requiring early treatment to a broader spectrum of conditions with uncertain prognosis, it is important to understand parents’ views. Stated preference surveys provide quantifiable data on parent preferences about features of newborn screening tests, the economic value of testing, and the effect of a test’s features on its probable uptake and value. We conducted formative research and developed a stated preference survey on parents' preferences regarding voluntary newborn screening. We reviewed the literature on parents’ attitudes toward newborn screening and factors related to those attitudes and developed a list of condition and test attributes. We narrowed the list by expert review and conducted focus groups with parents of infants to determine if they understood the attributes and to see which attributes parents viewed as relevant. We found that some parents struggled with the probability-based attributes. The most relevant attributes were developmental disability, physical disability, incidence, recurrence, lifespan, sensitivity, and cost. The survey developed from this study could provide data for economic evaluation, test prioritization, and educational material development.

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Psychosocial issues in newborn screening for cystic fibrosis

Cited by 33 publications

References 38 publications

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Developing a Conjoint Analysis Survey of Parental Attitudes Regarding Voluntary Newborn Screening

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