Implications of carrier identification in newborn screening for cystic fibrosis

Parsons, Evelyn; Bradley, Don M.

doi:10.1136/fn.88.6.f467

Cited by 55 publications

(61 citation statements)

References 9 publications

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“…23,29,30,[63][64][65] Positive CF Diagnosis When the CF NBS result indicates a high likelihood of CF, the NBS program should alert the clinical care center to allow the parents to meet with a CF clinician at the time of the sweat-test visit. Ideally, the parents of any infant with a positive sweat-test result should be able to meet with a CF clinician before leaving the clinical care center.…”

Section: Borderline Sweat-test Resultsmentioning

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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Section: Borderline Sweat-test Resultsmentioning

confidence: 99%

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

et al. 2007

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“…15,16 Passing on the genetic information to other family members has been described as 'problematic' after a child is identified as a CF carrier through NBS. 24 Policy recommendations regarding cascade testing after NBS in Victoria are to discuss cascade testing with parents of children diagnosed with CF. When a child is identified as a CF carrier after NBS, carrier testing is offered by a genetic counsellor to parents on the same day as the sweat test, and cascade testing for other adult relatives from the relevant side of the family is discussed.…”

Section: N¼716mentioning

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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“…A potential disadvantage of DNA analysis is carrier recognition (Parsons et al 2003;Comeau et al 2004).…”

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confidence: 99%

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

et al. 2011

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Implications of carrier identification in newborn screening for cystic fibrosis

Cited by 55 publications

References 9 publications

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

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

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

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

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