The genetic condition [fragile X syndrome] causes intellectual disability and behavioural and learning challenges, and is also the most common single-gene cause of autism worldwide.
Women who are carriers are at the greatest risk of having a child with the syndrome, and about one in 250 women in the general population are carriers.
And yet, only a few have heard about the syndrome, and even fewer are screened for it.
A new study by the Murdoch Children’s Research Institute suggests all women should be told about screening for the genetic condition – preferably before starting a family. – as long as they are well informed and receive support in making their decision.
The study […] was conducted over three years and involved 1000 Australian women who were pregnant or planning a family.
Lead researcher Professor Sylvia Metcalfe said the best practice was to enable informed decision-making about a condition that was relatively common.
“All women are at risk of being a carrier,” Professor Metcalfe said.
The chance of the carrier gene becoming a longer-length gene when passed on to the child was not the same for everyone.
“It is an individual risk,” [Metcalfe] said.
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