Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up

doi:10.1016/j.jpeds.2009.12.003

The Journal of Pediatrics

Volume 156, Issue 5, May 2010, Pages 771-776.e1

https://doi.org/10.1016/j.jpeds.2009.12.003 Get rights and content

Objective

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.

Study design

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.

Results

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.

Conclusions

CF NBS can lead to false-positive results, causing parental anxiety, which quickly decreases after a sweat test performed soon after the phone call.

Section snippets

Methods

This was a prospective, multicenter, observational study without direct benefits, conducted in 11 French CF Centers (Angers, Grenoble, Lille, Nancy, Nantes, Rennes, Roscoff, Toulouse, Tours, Vannes, and Versailles) with the approval of a French ethics committee.

All the children with a normal CF sweat test results (chloride concentration <30mmol/L) were admitted to the CRCM between July 2004 and June 2006 to be included in the study. This resulted in 2 distinct groups. After the IRT test

Results

Regardless of whether the centers recruited >10 children or <10 children and irrespective of the parents’ level of education, results at 3 months, 1 year, and 2 years did not differ significantly.

Collection and Performance of the Sweat Test

More than 95% of parents expressed having felt stress during the telephone conversation to schedule an appointment for the sweat test. They described an anxiety that increased proportionally to the waiting time between the call and the test's execution, in spite of this delay having been reduced to a minimum (<24 hours). Efforts were made to optimize the initial screening procedures, notably changes in the threshold levels and reductions of waiting time. In a study by Ciske et al,⁹ the parents

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Cited by (48)

Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns
2024, Clinica Chimica Acta
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to glutaryl coenzyme A dehydrogenase deficiency, causing elevated levels of glutaryl-CoA and its derivatives. GA-1 exhibits symptoms like macrocephaly, developmental delays, and movement disorders. Timely diagnosis through genetic testing and newborn screening is crucial. However, in some cases, transiently elevated level of glutarylcarnitine (C5DC) challenges accurate diagnosis, highlighting the need for alternative diagnostic methods, like mass spectrometry-based untargeted metabolomics, to identify additional biomarkers for distinguishing falsely suspected GA-1 from healthy newborns.
DBS samples from falsely suspected GA-1 newborns (n = 47) and matched control were collected through the NBS program. Untargeted metabolomics using liquid chromatography-high-resolution mass spectrometry (LC-HRMS) was performed to enable biomarker and pathway investigations for significantly altered metabolites.
582 and 546 were up- and down-regulated metabolites in transient GA-1. 155 endogenous metabolites displayed significant variations compared to the control group. Furthermore, our data identified novel altered metabolic biomarkers, such as N-palmitoylcysteine, heptacarboxyporphyrin, 3-hydroxylinoleoylcarnitine, and monoacylglyceride (MG) (0:0/20:1/0:0), along with perturbed metabolic pathways like sphingolipid and thiamine metabolism associated with the transient elevated C5DC levels in DBS samples.
A distinct metabolic pattern linked to the transient C5DC elevation in newborns was reported to enhance the prediction of the falsely positive cases, which could help avoiding unnecessary medical treatments and minimizing the financial burdens in the health sector.
A secondary benefit: The reproductive impact of carrier results from newborn screening for cystic fibrosis
2017, Genetics in Medicine
Citation Excerpt :
Studies have shown that communicating carrier results to parents of infants with false-positive results may cause anxiety.14,15 Although this state tends to be short-lived,15,16,17,18,19 anxiety about the carrier status of their infant persists for a minority of parents and leads to concerns about stigma and the physical health of their carrier child.18,20,21 Third, parents typically state that they want infant carrier information to know reproductive risks,19,21,22,23,24 yet evidence regarding parental use of that information is equivocal.
Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF.
We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants’ carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2.
The response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants’ carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways.
Although mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.
Genet Med 19 4, 403–411.
Newborn screening for cystic fibrosis — The parent perspective
2016, Journal of Cystic Fibrosis
Citation Excerpt :
A second possible drawback is that NBS may identify CF-carriers, or children with rare and/or mild CF-mutations, whose further clinical course cannot be clearly predicted and who might be asymptomatic for years [7,12]. This may lead to unnecessary medicalization and impair mother–child bonding [5,9,13,14]. Several investigations have shown that distress can be reduced if parents are properly informed, and if the period between receiving the positive screening result and confirmation through diagnostic evaluation in a specialised clinic is kept short [10,15–22].
Newborn screening for CF started 01/2011 in Switzerland. We investigated the parents' opinions about the information received, their feelings, and overall approval of the screening.
This is a prospective questionnaire survey of all parents of positively screened children. Parents were phoned by CF-centres and invited for diagnostic investigations. They completed a questionnaire after the visit to the CF-centre.
From 2011–2013, 246 families received the questionnaire and 138 (56%) replied. Of these 77 (60%) found the information received at birth satisfactory; 124 (91%) found the information provided in the CF-centre satisfactory. Most parents (n = 98, 78%) felt troubled or anxious when the CF-centre called, 51 (38%) remained anxious after the visit. Most parents (n = 122; 88%) were satisfied with the screening, 4 (3%) were not, and 12 (9%) were unsure.
The smooth organisation of the screening process, with personal information by a CF specialist and short delays between this information and the final diagnostic testing, might have contributed to reduce anxiety among parents. Most families were grateful that their child had been screened, and are happy with the process.
Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis
2014, Molecular Genetics and Metabolism Reports
Citation Excerpt :
Our results confirm the results of a recent non-controlled study showing that the early anxiety in parents induced by a positive screening result for CF was mostly decreased within three months thereafter, or that parents were reassured after genetic counseling and sweat test results [14]. The results after one and two years did not differ significantly [5]. Well-informed parents showed less feelings of anxiety and depression.
False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health.
To evaluate whether parental anxiety induced by a false positive screening result disappears after six months and to assess whether a special program to inform parents prior and during the screening procedure prevents or diminishes parental anxiety.
Prospective controlled study assessing the long term effects of false-positive test results of newborn screening for cystic fibrosis (NBSCF) on parental anxiety and stress by means of questionnaires sent to parents of 106 infants with a false positive newborn screening test and 318 randomly selected infants with a true negative screening test. Additionally we interviewed 25 parents of the false-positive group.
Parents showed negative feelings after being informed about the positive screening test result. After confirmation that their child was healthy and not suffering from CF, most parents felt reassured. After six months no difference in anxiety levels between both groups of parents was found. Well-informed parents in the false positive group experienced less stress.
A positive screening test result induces parental anxiety but false positive test results in NBSCF do not seem to cause long-term anxiety. Well-informed parents show lower stress and anxiety levels.
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents
2024, International Journal of Neonatal Screening
Parental Experiences of Genetic Testing
2024, NeoReviews

View all citing articles on Scopus

: Supported by grants from the Programme Hospitalier de Recherche Clinique and the association for Vaincre La Mucoviscidose, which have subsidized the psychologists and the computerization of the data. The authors declare no conflicts of interest.

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Original ArticlePsychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up

Objective

Study design

Results

Conclusions

Section snippets

Methods

Results

Collection and Performance of the Sweat Test

J Cyst Fibros

J Am Acad Child Psychiatry

Paediatr Respir Rev

Dried-blood spot screening for cystic fibrosis in the newborn

Lancet

Implementation of the French nationwide cystic fibrosis newborn screening program

J Pediatr

A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis

Pediatrics

A global measure of perceived stress

J Health Soc Behav

Thèse: score moyen française et américaine obtenu à l'échelle de stress perçu de Cohen selon le sexe

Psychologie de la Santé Modèles, concepts et méthodes

Is my child normal yet? Correlates of vulnerability

Pediatrics

Vulnerable child syndrome and its variants

Pediatr Rev

The vulnerable child syndrome revisited

J Dev Behav Pediatr

Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communication process

Pediatrics

Original Article
Psychological Effects of False-Positive Results in Cystic Fibrosis Newborn Screening: A Two-Year Follow-Up