Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis

Hayeems, Robin Z.; Miller, Fiona A.; Barg, Carolyn J.; Bombard, Yvonne; Carroll, June C.; Tam, Karen; Kerr, Elizabeth; Chakraborty, Pranesh; Potter, Beth K.; Patton, Sarah; Bytautas, Jessica P; Taylor, Louise; Davies, Christine; Milburn, Jennifer; Price, April; Gonska, Tanja; Keenan, Katherine; Ratjen, Félix; Guttmann, Astrid

doi:10.1016/j.jpeds.2017.01.049

Cited by 36 publications

(49 citation statements)

References 29 publications

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“…They were neutral to the possibility of a false-positive result causing anxiety and concern to the parents. Despite the combination of neutral position and ignorance seen in the respondents' answers to the questionnaire, studies such as this one, which contribute to the knowledge base on the psychosocial impact of medical surveillance triggered by diagnostic uncertainty, should be encouraged, and further assessment and support for these families must be ensured [14]. The present findings also highlight the need to improve the flow of information and the mechanisms whereby parents are notified of test results and supported.…”

Section: Discussionmentioning

confidence: 89%

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

Guimarães

Rabelo

Figueiredo

2019

IJNS

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Background: To ascertain the degree of knowledge of postpartum women about important aspects related to the neonatal screening process and whether differences of opinion exist between those who deliver in low-complexity versus high-complexity health facilities (low-risk versus high-risk pregnancies, respectively). Methods: This was a prospective, cross-sectional, questionnaire-based study. The sample consisted of postpartum women recruited from 2013 to 2015 at public maternity hospitals in the city of Niterói, Brazil. Participants were divided into two groups and completed a questionnaire consisting of Likert-scored items. Continuous variables were analyzed with the Mann-Whitney test, and categorical variables, with Fisher’s test. A confirmatory factor analysis of participants’ answers was performed. Results: Of 188 women enrolled, 54 (28.7%) had incomplete elementary education; 119 (62.2%) had attended more than six antenatal care visits. The mean age was 25.57 years. Nearly all women (n = 179, 95.2%) were roomed-in with their infants. Knowledge of neonatal screening was very similar in the high-complexity and low-complexity groups. Divergences were limited to items regarding the risks of neonatal screening. Conclusions: The degree of knowledge among postpartum women was similar among high- and low-complexity facilities. Those who attended high-complexity facilities had longer hospital stays and greater adherence to ethical issues regarding neonatal screening.

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Section: Discussionmentioning

confidence: 89%

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

Guimarães

Rabelo

Figueiredo

2019

IJNS

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“…The increased detection of inconclusive cases when using EGA strategies should thus be anticipated with regard to the organization of CF centers, the costs of follow-up, and the additional investigations for variant interpretation. Moreover, additional studies on psychological consequences [61] of the long-term follow-up of these patients are needed before implementation of EGA as a global model.…”

Section: Byproducts Of Nbs For Cf and Ethical Issues Increased Detectmentioning

confidence: 99%

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

Bergougnoux

Lopez

Girodon

2020

IJNS

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There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its coding regions has become affordable and has already been included as part of a limited number of core NBS programs, to the benefit of admixed populations. Based on results analysis of existing programs, the values and challenges of EGA are reviewed in the perspective of its implementation on a larger scale. Sensitivity would be increased at best by using EGA as a second tier, but this could be at the expense of positive predictive value, which improves, however, if EGA is applied after testing a variant panel. The increased detection of babies with an inconclusive diagnosis has proved to be a major drawback in programs using EGA. The lack of knowledge on pathogenicity and penetrance associated with numerous variants hinders the introduction of EGA as a second tier, but EGA with filtering for all known CF variants with full penetrance could be a solution. The issue of incomplete knowledge is a real challenge in terms of the implemention of NBS extended to many genetic diseases.

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“…This is an extremely unsettling situation for families; the traditional framework of health and disease is undermined [2]. Delivery of the initial positive NBS result and the subsequent inconclusive result places the family in a psychologically vulnerable position with oscillating emotions.…”

Section: What Does This Mean For Families?mentioning

confidence: 99%

“…Most infants with a positive NBS result for CF will have either a clear diagnosis of CF (true positive NBS result) or CF excluded (false positive NBS result), however a small but significant number will have an inconclusive diagnosis. This is a challenging situation for families and for healthcare professionals [2].…”

mentioning

confidence: 99%

Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition

Southern

Barben

Gartner

et al. 2019

Journal of Cystic Fibrosis

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Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis

Cited by 36 publications

References 29 publications

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition

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