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Implications of carrier identification in newborn screening for cystic fibrosis

Parsons, Evelyn Patricia, Clarke, Angus John ORCID: and Bradley, Don M. 2003. Implications of carrier identification in newborn screening for cystic fibrosis. Archives of Disease in Childhood 88 (6) , pp. 467-471. 10.1136/fn.88.6.F467

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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. RESPONDENTS: 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Healthcare Sciences
Uncontrolled Keywords: screening; cystic fibrosis; carrier detection; psychosocial issues
Publisher: BMJ Publishing Group
ISSN: 0003-9888
Last Modified: 22 Jul 2023 16:47

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