Implications of carrier identification in newborn screening for cystic fibrosis

Arch Dis Child Fetal Neonatal Ed. 2003 Nov;88(6):F467-71. doi: 10.1136/fn.88.6.f467.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anxiety
  • Attitude to Health
  • Clinical Protocols
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / psychology
  • Family
  • Genetic Carrier Screening / methods*
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Interview, Psychological / methods
  • Mother-Child Relations
  • Neonatal Screening / methods*
  • Prospective Studies
  • Surveys and Questionnaires