They all have serious health consequences and in each case, there's no cure. Genetic diseases account for a considerable proportion of early infant deaths in Australia.Ĭystic fibrosis, Fragile X syndrome and spinal muscular atrophy are three of the most commonly inherited genetic conditions. "This is a wonderful study and very important." Targeting severe conditions "People don't know that they're carriers, and people aren't warned that this is a possibility," said Professor Nigel Laing from the Harry Perkins Institute of Medical Research. One in 240 couples were identified as having a high chance of having a child born with one of the illnesses, and approximately one in 1,000 pregnant women had an affected pregnancy - which is comparable to the estimated incidence of Down syndrome. "The high proportion of individuals identified as carriers emphasises the benefits of implementing a population-based carrier screening approach rather than relying on family history to guide screening decisions," the authors wrote. Professor David Amor with a technician at the Victorian Clinical Genetics Services. Of those carriers, 88 per cent had no family history of the condition. They found that one in 20 people screened were carriers of at least one of the three conditions they screened for - cystic fibrosis, Fragile X syndrome and spinal muscular atrophy. Researchers from the Murdoch Children's Research Institute analysed data from 12,000 women (and their partners) who chose to have genetic carrier screening. When two people are found to carry the same recessive gene, they have a one in four chance of having a child who will develop that condition.The test is performed before pregnancy, but can also be done in the first 12 weeks of gestation.Genetic carrier screening involves testing healthy individuals (via a blood or saliva sample) for gene mutations that cause diseases that are not present in them."We feel it's important to make couples aware of the availability of this type of testing and make sure they're fully informed." How does genetic screening work? "There is also a misconception that these types of disorders are only relevant where there is a family history of the condition … but most parents who have a child with one of these disorders have no family history.
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