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Implications of carrier identification in newborn screening for cystic fibrosis
E P Parsons1, A J Clarke, D M Bradley
1Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK. parsonsep@cardiff.ac.uk
Insights
Newborn screening for cystic fibrosis carriers has no negative impact on family wellbeing or the mother-baby relationship. Parents supported screening but noted issues with service delivery and genetic counseling practices.
Area of Science:
- Genetics
- Pediatrics
- Psychology
Background:
- Newborn screening programs are expanding to include genetic carrier status.
- Understanding the psychosocial impact on families is crucial for effective implementation.
Purpose of the Study:
- To investigate the psychosocial implications for families with infants identified as cystic fibrosis carriers through newborn screening.
- To assess the impact on maternal anxiety, wellbeing, and the mother-baby relationship.
Main Methods:
- Prospective psychosocial assessment in a primary care setting.
- Utilized questionnaires and semistructured interviews.
- Included families of affected infants (n=9), carrier infants (n=10), and a general population control group (n=82).
Main Results:
- All participating families favored newborn screening.
- No adverse effects on the mother-baby relationship, maternal anxiety, or wellbeing were observed.
- Parents identified areas for improvement in service delivery protocols and genetic counseling.
Conclusions:
- Infant carrier identification through newborn screening was not perceived as problematic by parents six months post-disclosure.
- The findings support the continuation of newborn screening for cystic fibrosis carriers.
Objective:
To investigate the psychosocial implications for families whose infant was identified as a cystic fibrosis carrier by newborn screening.
Design:
Prospective psychosocial assessment.
Setting:
Primary care.
Study:
(a) families of an affected infant identified by screening (n = 9); (b) families of a carrier infant identified by screening (n = 10).
Control:
group of mothers from the general population (n = 82).
Interventions:
Questionnaires and semistructured interviews.
Main Outcome Measures:
Attitude to screening, assessments of the mother/baby relationship, anxiety, wellbeing.
Results:
All families were in favour of screening, with no evidence that the mother/baby relationship, anxiety or wellbeing had been adversely affected. Parents, however, did identify problems in terms of the service delivery protocol and genetic counselling practice.
Conclusion:
Six months after disclosure, carrier identification was not perceived by parents to be problematic.
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