Newborn screening for cystic fibrosis

Southern, Kevin W; Mérelle, Marieke M. E.; Dankert-Roelse, J.E.; Nagelkerke, Ad F.

doi:10.1002/14651858.cd001402.pub2

Cited by 92 publications

(49 citation statements)

References 45 publications

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“…Carrier frequency for individuals of Northern European ancestry is around 1 in 25-30 (Williamson 1993). CF affects respiratory, gastrointestinal/digestive, reproductive as well as other systems and, although there is yet no cure, a range of treatments, especially those aimed at reducing the malnutrition (Southern et al 2009), have resulted in increased life expectancies (Dodge et al 2007;O'Sullivan and Freedman 2009). Identification of the CFTR gene associated with CF in 1989 Rommens et al 1989;Riordan et al 1989) led to the introduction of newborn screening in a number of countries.…”

Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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Section: Carrier Screening For Cystic Fibrosismentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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“…Evidence suggests that there is an appreciation of the centrality of communication in ensuring that benefits from NBSPs are realised and the probability of potential harms is reduced. 42,63,[142][143][144][145][146][147][148][149] Specifically, there is a recognised need to inform parents prior to screening, 34,44,52 preferably antenatally. 34,72 Without effective communication the validity of consent is questioned, as, although parents consent to screening, many are not aware that screening has occurred 28,[31][32][33] or have limited knowledge about it.…”

Section: Introductionmentioning

confidence: 99%

Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project

Ulph

Wright

Dharni

et al. 2017

Health Technol Assess

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BackgroundParticipation in the UK Newborn Bloodspot Screening Programme (NBSP) requires parental consent but concerns exist about whether or not this happens in practice and the best methods and timing to obtain consent at reasonable cost.ObjectivesTo collate all possible modes of prescreening communication and consent for newborn (neonatal) screening (NBS); examine midwives’, screening professionals’ and users’ views about the feasibility, efficiency and impact on understanding of each; measure midwives’ and parents’ preferences for information provision; and identify key drivers of cost-effectiveness for alternative modes of information provision.DesignSix study designs were used: (1) realist review – to generate alternative communication and consent models; (2) qualitative interviews with parents and health professionals – to examine the implications of current practice for understanding and views on alternative models; (3) survey and observation of midwives – to establish current costs; (4) stated preference surveys with midwives, parents and potential future parents – to establish preferences for information provision; (5) economic analysis – to identify cost-effectiveness drivers of alternative models; and (6) stakeholder validation focus groups and interviews – to examine the acceptability, views and broader impact of alternative communication and consent models.SettingProviders and users of NBS in England.ParticipantsStudy 2: 45 parents and 37 health professionals; study 3: 22 midwives and eight observations; study 4: 705 adults aged 18–45 years and 134 midwives; and study 6: 12 health-care professionals and five parents.ResultsThe realist review identified low parental knowledge and evidence of coercive consent practices. Interview, focus group and stated preference data suggested a preference for full information, with some valuing this more than choice. Health professionals preferred informed choice models but parents and health professionals queried whether or not current consent was fully informed. Barriers to using leaflets effectively were highlighted. All studies indicated that a ‘personalised’ approach to NBS communication, allowing parents to select the mode and level of information suited to their learning needs, could have added value. A personalised approach should rely on midwife communication and should occur in the third trimester. Overall awareness was identified as requiring improvement. Starting NBS communication by alerting parents that they have a choice to make and telling them that samples could be stored are both likely to enhance engagement. The methods of information provision and maternal anxiety causing additional visits to health-care professionals were the drivers of relative cost-effectiveness. Lack of data to populate an economic analysis, confirmed by value of information analysis, indicated a need for further research.LimitationsThere are some limitations with regard to the range of participants used in studies 2 and 3 and so caution should be exercised when interpreting some of the results.ConclusionsThis project highlighted the importance of focusing on information receipt and identified key communication barriers. Health professionals strongly preferred informed consent, which parents endorsed if they were made aware of sample storage. Uniform models of information provision were perceived as ineffective. A choice of information provision was supported by health professionals and parents, which both enhances cost-effectiveness and improves engagement, understanding and the validity of consent. Remaining uncertainties suggest that more research is needed before new communication modes are introduced into practice. Future research should measure the impact of the suggested practice changes (informing in third trimester, information toolkits, changed role of midwife).Trial registrationCurrent Controlled Trials ISRCTN70227207.FundingThis project was funded by the NIHR Health Technology Assessment programme and will be published in full inHealth Technology Assessment; Vol. 21, No. 55. See the NIHR Journals Library website for further project information.

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“…Newborn screening for cystic fibrosis (NBS) is, despite some evidence of its benefits, (25,26) still controversial (27). Anxiety linked to inconclusive or false-positive test results, risk of premature bacterial colonization, due to earlier exposure to the medical environment, and the hazards of carrier detection in a multiethnic society, are a matter of debate (28).…”

Section: Discussionmentioning

confidence: 99%

“…Anxiety linked to inconclusive or false-positive test results, risk of premature bacterial colonization, due to earlier exposure to the medical environment, and the hazards of carrier detection in a multiethnic society, are a matter of debate (28). The actual benefits of NBS appear less clear-cut than for other types of neonatal screening programs (26,28). The Wisconsin randomized clinical trial showed nutritional benefits, but no long-term effects on pulmonary prognosis (26).…”

Section: Discussionmentioning

confidence: 99%

“…The actual benefits of NBS appear less clear-cut than for other types of neonatal screening programs (26,28). The Wisconsin randomized clinical trial showed nutritional benefits, but no long-term effects on pulmonary prognosis (26). Koscik and colleagues (29) reported a link between NBS diagnosis and improved cognitive outcomes, but failed to demonstrate any benefit for HRQoL (7).…”

Section: Discussionmentioning

confidence: 99%

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Health-Related Quality of Life and Psychological Distress in Italian Patients With Cystic Fibrosis

et al. 2015

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Objective -The aim of this paper is to describe the health related quality of life (HRQoL) in an unselected hospital-based cohort of patients with Cystic fibrosis (CF), and to explore the association between HRQoL and psychological status. Study design -115 patients with CF (47 children, 26 adolescents and 42 adults) attending the Bambino Gesù Pediatric Hospital in Rome, Italy, were recruited. HRQoL was measured through the Cystic Fibrosis Questionnaire (CFQ), child and adult versions. The Youth Self Report Form and the General Health Questionnaire were used to screen for psychological distress in patients aged below and above 18 respectively. Multivariable logistic regression analysis was performed to explore the relationship between CFQ scores and psychological distress, adjusting for socio-demographic and clinical variables. Results -HRQoL was high, except for Social Limitations, Energy/Wellbeing and Treatment Constraints. Twenty-eight patients (24.4%) scored positive for psychological distress. HRQoL scores below median for Symptoms, Body Image and Social Limitations, and unemployment were significantly associated with the presence of psychological distress, while age, screening-based diagnosis, gender and medical factors were not. Conclusions -Screening for psychological distress should be part of routine management of patients with CF. Opportunities for age-appropriate socialization, work and leisure time should be allowed and encouraged.

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Newborn screening for cystic fibrosis

Abstract: al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth.

Cited by 92 publications

References 45 publications

Carrier screening in preconception consultation in primary care

Carrier screening in preconception consultation in primary care

Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project

Health-Related Quality of Life and Psychological Distress in Italian Patients With Cystic Fibrosis

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