Should all women be screened for Fragile X autism-linked gene?

| | August 2, 2017

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.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: All women should have chance to be screened for fragile X genetic condition: study

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