A case for cystic fibrosis carrier testing in the general population

McClaren, Belinda J; Metcalfe, Sylvia A; Amor, David J; Aitken, MaryAnne; Massie, John

doi:10.5694/j.1326-5377.2011.tb03781.x

Topics

To the Editor: As a family history of cystic fibrosis (CF) is uncommon among children diagnosed by newborn screening, offering carrier testing in the general population is warranted

1 Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, VIC.
2 Victorian Clinical Genetics Service, Genetic Health Services Victoria, Melbourne, VIC.
3 Research Strategy, Murdoch Childrens Research Institute, Melbourne, VIC.
4 Royal Children’s Hospital, Melbourne, Melbourne, VIC.

Correspondence: belinda.mcclaren@mcri.edu.au

1. Massie RJ, Olsen M, Glazner J, et al. Newborn screening for cystic fibrosis in Victoria: 10 years’ experience (1989–1998). Med J Aust 2000; 172: 584-587.
2. McClaren BJ, Metcalfe SA, Aitken M, et al. Uptake of cystic fibrosis carrier testing in families after diagnosis through newborn screening. Eur J Hum Genet 2010; 18: 1084-1089.
3. Massie J, Petrou V, Forbes R, et al. Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Aust N Z J Obstet Gynaecol 2009; 49: 484-489.

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