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Updated: Jun 20, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Inconclusive cystic fibrosis neonatal screening results: long-term psychosocial effects on parents
Sandra Perobelli1, Luisa Zanolla, Anna Tamanini
1Verona Cystic Fibrosis Centre, Ospedale Civile Maggiore, Verona, Italy. sandra.perobelli@azosp.vr.it
Insights
Parents of infants with inconclusive newborn screening results for Cystic Fibrosis (CF) experience less anxiety than those with a confirmed CF diagnosis. Coping mechanisms and emotional distress levels are comparable to healthy controls.
Area of Science:
- Medical Genetics
- Pediatric Endocrinology
- Neonatal Screening
Background:
- Newborn screening for Cystic Fibrosis (CF) can yield ambiguous results, leaving diagnosis uncertain.
- This ambiguity presents unique challenges for parents navigating their child's health status.
Purpose of the Study:
- To evaluate parental coping mechanisms and emotional responses to ambiguous CF screening results.
- To compare these experiences with parents of children diagnosed with CF and healthy controls.
Main Methods:
- A comparative study involving parents of infants with an ambiguous CF diagnosis (AD), confirmed CF diagnosis (CFD), and healthy controls (HC).
- Participants were matched for infant gender and age.
Main Results:
- Parents in the AD group reported less pronounced emotional reactions and lower anxiety compared to the CFD group.
- Parental concern for child's health in the AD group was similar to HC and lower than CFD.
- Long-term emotional distress and impact on parent-child relationships were similar between AD and CFD groups, and higher than HC.
Conclusions:
- Inconclusive newborn screening results for CF are associated with manageable anxiety levels, comparable to healthy controls.
- While long-term distress may be similar to confirmed CF cases, the initial impact is less severe than a definitive diagnosis.
Aim:
Cystic Fibrosis (CF) Newborn Screening occasionally identifies neonates where a CF diagnosis can neither be confirmed nor excluded. To assess how parents of these infants cope with this ambiguous situation.
Methods:
Parents of 11 children with Ambiguous Diagnosis (group AD) were compared with parents of 11 children diagnosed with CF through neonatal screening [group Cystic Fibrosis Diagnosis (CFD)] and with parents of 11 Healthy Control children (group HC) matched for gender and age.
Results:
The emotional reaction to the inconclusive result was less pronounced in AD than in CFD (p = 0.003), and AD parents considered their infants as healthy as controls. Parents' anxiety about their child's health is stronger in CFD than in AD (p < 0.05) and HC (p < 0.001). Long-term emotional distress was rated similarly in AD and CFD, and greater than in HC (p = 0.0003). The parent/child relationship was less influenced in AD than in the CF group (p = 0.03). Seven AD and CFD parents changed their family planning projects.
Conclusion:
Inconclusive neonatal screening results appear to be understood and associated with lower anxiety levels than CF diagnosis. Concern about the child's health is similar to healthy controls and lower than in parents of CF children.
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