title: Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening.
abstract: OBJECTIVE
  To investigate parental attitudes to cystic fibrosis (CF) carrier detection of their infant by newborn screening (NBS).
  
  
  METHODS
  Data were collected from a postal questionnaire sent to parents of infants identified as CF carriers by NBS in 1996-1997 (inclusive) and 2001 in Victoria, Australia (n = 66).
  
  
  RESULTS
  Almost all parents remembered their child being identified as a CF carrier (97%: 1996/1997; 100%: 2001); yet the majority were unaware at the time that NBS could detect carriers (70%: 1996/1997; 49%: 2001). More parents in the later cohort reported having carrier testing compared with the earlier cohort (85% and 53% respectively) but recall was more uncertain in the earlier cohort when validated against health records. Cascade testing was not utilised frequently by other family members in either cohort. Residual risk of being a carrier if testing was negative was not well understood by parents. Some parents (28%: 1996/1997; 18%: 2001) had residual anxiety about the current health of their carrier child and their future reproductive decision making. Most parents were satisfied with the information provided to them at the time of the sweat test. Few differences were seen between the cohorts.
  
  
  CONCLUSIONS
  Although the NBS process for CF in Victoria is working efficiently for the majority of families whose infant is identified as a carrier there are areas that can be improved. We recommend that greater attention should be given to informing parents that a consequence of NBS is CF carrier detection and strategies to improve utilisation of cascade testing should be developed.
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia. sharon.lewis@mcri.edu.au
authors.forename: Sharon
authors.initials: S
authors.lastname: Lewis
authors.forename: Lisette
authors.initials: L
authors.lastname: Curnow
authors.forename: Margaret
authors.initials: M
authors.lastname: Ross
authors.forename: John
authors.initials: J
authors.lastname: Massie
mesh_terms: D000328:Adult; D001007:Anxiety; D001294:Attitude to Health; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods / Q000523:psychology*; D010290:Parents / Q000523:psychology*; D012189:Retrospective Studies; D014739:Victoria