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Screening couples for cystic fibrosis carrier status: why are we waiting?

Louise M Christie, Elvira M Zilliacus, Angela J Ingrey and Gillian Turner
Med J Aust 2006; 184 (9): . || doi: 10.5694/j.1326-5377.2006.tb00331.x
Published online: 1 May 2006

To the Editor: This question was recently posed by Massie and colleagues in an editorial in the Journal.1 We have experience in providing cystic fibrosis (CF) carrier testing in pregnancy and in those planning pregnancy. In 1998, we ran a 12-month pilot program, the Double Testing Program, offering ΔF508 carrier testing to couples attending the John Hunter Hospital, Newcastle, NSW, for nuchal translucency screening. Of 491 participants, 84% chose CF carrier testing; 23 carrier–non-carrier couples were identified, and no carrier–carrier couples. A postnatal questionnaire compared knowledge of CF, anxiety levels and perceptions of the service between non-carrier couples and couples in which one partner was a carrier.2 Both groups were very satisfied with the service, with no increased levels of anxiety.


  • Hunter Genetics, Newcastle, NSW.



  • 1. Massie RJ, Delatycki M, Bankier A. Screening couples for cystic fibrosis carrier status: why are we waiting [editorial]? Med J Aust 2005; 183: 501-502. <MJA full text>
  • 2. Zilliacus E. Evaluating the double testing programme: nuchal translucency ultrasound and cystic fibrosis couple screening in early pregnancy [dissertation for Master of Genetic Counselling]. Newcastle, NSW: University of Newcastle, 2000.
  • 3. DuddingT, Wilken B, Burgess B, et al. Reproduction decisions after neonatal screening identifies cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 2000; 82: 124-127.

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