Psychosocial issues in newborn screening for cystic fibrosis

doi:10.1016/S1526-0542(03)00086-1

Paediatric Respiratory Reviews

Volume 4, Issue 4, December 2003, Pages 285-292

https://doi.org/10.1016/S1526-0542(03)00086-1 Get rights and content

Abstract

Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.

Section snippets

INTRODUCTION

An effective method of newborn screening for cystic fibrosis (CF) has been possible since 1979 when the immunoreactive trypsin level was found to be elevated in the serum of affected infants.¹ In the UK, about 20% of newborns are currently screened for CF and several other programmes operate in Europe, Australia, New Zealand and the USA.² Screening in the newborn period remains, however, controversial because prophylactic interventions have not yet been clearly shown, under trial conditions, to

PARENTAL ATTITUDES TO NEWBORN SCREENING

Parental attitudes to newborn screening have been seen by many researchers as an important indicator of the acceptability of an early diagnosis. Several studies have ascertained this from both affected and carrier families. Although the reasons given by parents for being in favour of neonatal screening varied between studies and between affected and carrier groups, the literature provides evidence of widescale support.2., 5., 9., 10., 13., 16. Helton et al. reported that both cohorts (newborn

Diagnostic distress

A diagnosis of CF is distressing whenever it is made but the important question is whether a newborn screening diagnosis causes more distress, or disrupts the mother–baby relationship more significantly, than a later symptomatic diagnosis. Having examined the research evidence, the authors of a recent systematic review concluded that the shock and anxiety caused by a newborn diagnosis,³ although considerable, is no greater than that incurred by a clinically obtained diagnosis.⁵ Helton et al.

FAMILIES WITH A CARRIER INFANT

One major concern, which is currently delaying the implementation of newborn screening for CF in England (R.J. Pollitt, personal communication, 2002), is the potential for harm to families whose infants are shown to be carriers. This is an unfortunate side-effect of current technology, which uses DNA at the second stage of screening.

There is literature, dating back to the 1960s, that reports the negative impact on families with a false-positive result for other newborn screening tests.27., 28.,

LESSONS FOR SERVICE DELIVERY

It has been seen that there is considerable support from parents for neonatal screening but there is also evidence that the way in which a particular screening service is delivered has in some cases had a negative psychosocial impact on parents. Dodge, in an editorial, noted that the interface between the screeners and the public is the point at which screening will be judged and there is no case for a programme that delivers anxiety without reassurance.¹¹

In reviewing the literature, we have

CONCLUSION

The recent Health Technology Assessment noted that the psychological research reported in the field of newborn screening was not uniform in its focus, nor was it coherent.⁵ Although this charge might have some substance, it fails to take account of the contextual setting of such research over the past 30 years.

Psychosocial genetics is a relatively new field within the social sciences and has now emerged as a discipline recognised in its own right. The research reviewed in this paper is a good

PRACTICE POINTS

•
Policy-makers need to design service delivery protocols to minimise the distress caused by an abnormal screening test result by (a) eliminating undue time delays, (b) providing sufficient and appropriate information and (c) using DNA results to inform the nature of first contact with families.
•
Health professionals need to ensure that families with a carrier infant are fully informed.
•
The policy regarding the carrier-testing of other siblings needs clarification.
•
Genetic counselling should be

RESEARCH DIRECTIONS

•
Larger studies investigating the psychosocial implications of carrier identification.
•
Longitudinal studies on the implications of infant carrier identification.
•
Evidence on carrier identification and health insurance.
•
Research into the effect of service delivery protocols on parental anxiety and understanding.

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Cited by (35)

To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis
2013, European Journal of Medical Genetics
Most newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not.
Focus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn.
All (n = 30) wanted to be informed when newborn screening would show their newborn being a CF-carrier. Their main reason was the implication of this knowledge for further family planning. Other family members could be informed and children within the family could be tested. Parents stated they have the right to know, but others also expressed that the choice of not being informed should be offered as well.
Most parents want to be informed when NBS for CF reveals that their child is a CF-carrier, but the choice of not being informed should also be offered.
Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up
2010, Journal of Pediatrics
Citation Excerpt :
During the announcement of heterozygotism, half the families remained calm, and the other half became concerned to various degrees. In line with published results, all families felt it to be an advantage to be aware of the heterozygotism and wished to discuss this issue with their child later.9,12,24 This consultation seemed to be essential in reducing the anxiety caused by the heterozygotism, because only families in the HZ group reported residual anxiety.
To evaluate parental stress after a false-positive result at the time of the cystic fibrosis (CF) newborn screening (NBS), attributable to heterozygotism or persistent hypertrypsinemia.
A prospective study was conducted in 86 French families at 3, 12, and 24 months after NBS. A psychologist conducted interviews with a questionnaire, the Perceived Stress Scale, and the Vulnerable Child Scale.
Overall, 96.5% of parents said they had been anxious at the time of the sweat test. However, 86% felt entirely reassured 3 months after the test. The mean Perceived Stress Scale score did not differ from that observed in the French population. Mean Vulnerable Child Scale scores were high, associated with a low Parental Perception of Child Vulnerability. These results did not differ significantly at 1 and 2 years. In total, 86% to 100% of families no longer worried about CF. All parents stated that they would have the test performed again for another child.
CF NBS can lead to false-positive results, causing parental anxiety, which quickly decreases after a sweat test performed soon after the phone call.
European best practice guidelines for cystic fibrosis neonatal screening
2009, Journal of Cystic Fibrosis
Citation Excerpt :
Whilst parents might be satisfied with the quality of information they received, a high proportion can have lingering anxiety about their child's health and their own future reproductive decision-making despite further suggestion that NBS does not lead to changes in subsequent pregnancy planning [123]. Some parents have concerns about talking to extended family members about ‘carrier’ status, predominantly due to CF being a genetic diagnosis, and the topic having the potential to accentuate dysfunctional family relationships and create new stresses [124–126,107] even though subsequent cascade testing is reported to not be utilised frequently by extended family members [123]. The Consensus recommendations for counselling parents when carrier infants are detected are shown in Table 7.
There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits.
In Europe more than 25 screening programmes have been developed, with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used.
Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut.
All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS programmes.
Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families.
The French nationwide cystic fibrosis newborn screening program: strategy and results
2008, Archives de Pediatrie
In 2002 France implemented a nationwide newborn screening program for cystic fibrosis (CF). The strategy combined immunoreactive trypsinogen and, in case of a value over the cut-off level, DNA analysis in dried blood samples at day 3.
Data were centralized and periodically analyzed thus maintaining the percentage of samples requiring mutation analysis (0.6%), limiting the number of false-positive cases (0.1%) without increasing the number of false-negative cases (3.2%).
3.527.353 infants were screened between 2002 and 2006. The overall cystic fibrosis incidence was 1/ 4136 with a wide range of regional variations.
Dilemma case presentation occurred for 14 % of the patients; an European working group is actively working on this topic, attempting to establish a consensus on the adequate procedures.
Cystic fibrosis newborn screening is feasible all over a nation but needs a strong organization from maternity wards to CF care centers.
Le dépistage néonatal (DNN) de la mucoviscidose est devenu national en 2002. La stratégie associe au dosage de la trypsine immunoréactive à 3 jours de vie, la recherche des mutations les plus fréquentes du gène CFTR pour les spécimens dont la valeur est au dessus du seuil dès lors que le consentement parental pour l’étude de l’ADN a été obtenu à la maternité.
La centralisation des données a permis d’adapter l’organigramme en vue de respecter le nombre de nouveau-nés suspects (0,6 %), limiter le nombre de faux positifs (1 ‰) sans majorer le nombre de faux négatifs (3,2 %).
Entre 2002 et 2006, 3 527 353 nouveau-nés ont bénéficié du dépistage. L’incidence globale de la maladie est de 1/4136 (IC 95 % : 1/3840-1/4480) avec d’importantes variations régionales.
La présence de formes frontières de mucoviscidose concerne 14 % des dépistés, posant des problèmes diagnostiques et pronostiques pour lesquels un groupe de travail européen essaie d’harmoniser les procédures.
Le DNN de la mucoviscidose est possible sur l’ensemble d’un pays mais nécessite une organisation rigoureuse de tous les intervenants, des maternités jusqu’aux Centres de Ressources et de Compétences de la Mucoviscidose (CRCM).
Newborn screening for CF in a regional paediatric centre: The psychosocial effects of false-positive IRT results on parents
2007, Journal of Cystic Fibrosis
Citation Excerpt :
The most recent data supports the introduction of CF NBS programmes, providing that early diagnosis is followed up by high quality care in specialised centres [5–7]. There are short- and long-term psychosocial aspects of CF NBS [8]. The waiting period between raised IRT on screening and diagnostic confirmation is psychologically distressing for parents and can cause depressive symptoms, mediated amongst other things, by prior knowledge [9].
Neonatal screening for cystic fibrosis (CF) has been established in Leeds since 1975. The current method is measuring IRT and genotyping. Newborn screening for CF results in a small but significant number of false positives. This study explored the psychosocial reactions to such results in a group of parents (N = 21) using semi-structured interviews. Responses were analysed using descriptive statistics and well-validated content analysis.
Mothers described a range of emotions during the screening process including anxiety, distress and upset. Waiting for the repeat IRT test results was identified as the most emotionally difficult stage. Discussion focuses on good practice and implications for CF services.
Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
2007, Clinical Biochemistry
To determine the clinical efficacy and cost-effectiveness of newborn screening for MCADD using tandem mass spectrometry (MS/MS) compared with clinical diagnosis within the Canadian context.
A systematic review of the clinical and economic literature was performed. For primary economic analysis, a decision-tree model was built based on the available information, the impact of newborn screening on the health care and the relevant Canadian data.
Twenty-one clinical and two economic studies met the selection criteria. Mean incidence of MCADD was approximately 1:16,000. Clinical sensitivity and specificity were 100% and 99.99%, respectively. Screening significantly lowered morbidity and mortality. Both economic studies showed that screening for MCADD using MS/MS was cost-effective if willingness-to-pay was US$50,000. Our primary economic analysis showed that screening was cost-effective based on the cost-effective threshold of C$20,000 per QALY.
Screening consumes more resources than no screening but attains better health outcomes.

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MINI-SYMPOSIUM: SCREENING IN CYSTIC FIBROSISPsychosocial issues in newborn screening for cystic fibrosis

Abstract

Section snippets

INTRODUCTION

PARENTAL ATTITUDES TO NEWBORN SCREENING

Diagnostic distress

FAMILIES WITH A CARRIER INFANT

LESSONS FOR SERVICE DELIVERY

CONCLUSION

PRACTICE POINTS

RESEARCH DIRECTIONS

Adv. Pediatr.

Lancet

J. Am. Acad. Child Psychiatry

Lancet

Soc. Sci. Med.

Dried-blood spot screening for cystic fibrosis in the newborn

Lancet

Screening for cystic fibrosis

Health Technol. Assess

A debate on why my state (province) should or should not conduct newborn screening for cystic fibrosis (14th annual North American cystic fibrosis conference)

Pediatr. Pulmonol.

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

Pediatrics

Cystic fibrosis screening in newborns: results from existing programs

Curr. Opin. Pulm. Med.

Effects of newborn screening of cystic fibrosis on reported maternal behaviour

Arch. Dis. Child

Screening for cystic fibrosis; why, how, when?

Pediatr. Pulmonol.

The impact of newborn screening on cystic fibrosis testing in Victoria, Austrialia

J. Med. Genet.

Parental attitudes towards newborn screening for cystic fibrosis

Paed. Pulmonol.

Cystic fibrosis identification by nenonatal screening – incidence, genotype and early natural history

Arch. Dis. Child

Reproductive decisions after neonatal screening identifies cystic fibrosis

Arch. Dis. Child

Attitude of parents of cystic fibrosis children towards neonatal screening and prenatal diagnosis

Clin. Genet.

Cystic fibrosis newborn screening: impact of early screening results on parenting stress

Pediatr. Nurs.

Psychological impact of false-positive results when screening for cystic fibrosis

Pediatr. Pulmonol.

MINI-SYMPOSIUM: SCREENING IN CYSTIC FIBROSIS
Psychosocial issues in newborn screening for cystic fibrosis