One in 25 Australians carries a cystic fibrosis gene mutation, but most do not know it until they have an affected child
The technology for safe, cheap screening for the principal gene mutations responsible for cystic fibrosis has long been available. Nearly 10 years ago, the US National Institutes of Health recommended “testing for gene mutations that cause [cystic fibrosis] be offered as an option to all pregnant couples and those planning a pregnancy”.1 A similar recommendation has been made by a joint committee of the American College of Obstetricians and Gynaecologists and the American College of Medical Genetics.2 In 1998, this Journal published an editorial emphasising the need for Australia to follow suit in promoting carrier screening for cystic fibrosis.3 There has been little response despite the fact that each year 70 babies are born in Australia with cystic fibrosis, almost all to parents with no family history.4
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- Royal Children's Hospital, Melbourne, VIC.
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