ORIGINAL ARTICLE

Implications of carrier identification in newborn screening for cystic fibrosis

E P Parsons¹, A J Clarke¹, D M Bradley²

¹ Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
² Department of Medical Biochemistry, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, Wales, UK

Correspondence to:
Correspondence to:
Dr Parsons
SONMS, UWCM, Heath Park, Cardiff, Wales CF14 4XN, UK; parsonsep{at}cardiff.ac.uk

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.

Keywords: screening; cystic fibrosis; carrier detection; psychosocial issues

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

Relevant Article

Fantoms

Ben Stenson
Arch. Dis. Child. Fetal Neonatal Ed. 2003 88: F448. [Extract] [Full Text] [PDF]

This article has been cited by other articles:

• Miller, F. A., Robert, J. S., Hayeems, R. Z. (2009). Questioning the Consensus: Managing Carrier Status Results Generated by Newborn Screening. AJPH 99: 210-215 [Abstract] [Full Text]  
• Comeau, A. M., Accurso, F. J., White, T. B., Campbell, P. W. III, Hoffman, G., Parad, R. B., Wilfond, B. S., Rosenfeld, M., Sontag, M. K., Massie, J., Farrell, P. M., O'Sullivan, B. P. (2007). Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. Pediatrics 119: e495-e518 [Abstract] [Full Text]  
• Price, J F (2006). Newborn screening for cystic fibrosis: do we need a second IRT?. Arch. Dis. Child. 91: 209-210 [Full Text]  
• Farrell, M. H., La Pean, A., Ladouceur, L. (2005). Content of Communication by Pediatric Residents After Newborn Genetic Screening. Pediatrics 116: 1492-1498 [Abstract] [Full Text]  
• La Pean, A., Farrell, M. H. (2005). Initially Misleading Communication of Carrier Results After Newborn Genetic Screening. Pediatrics 116: 1499-1505 [Abstract] [Full Text]  
• Olusanya, B O, Luxon, L M, Wirz, S L (2004). Infant hearing screening: route to informed choice. Arch. Dis. Child. 89: 1039-1040 [Abstract] [Full Text]