Deep genetic screening of fetuses for all Australian mothers could soon be available through a simple blood test – and according to a new study, the majority of women want it.
The study, published on Friday by the Murdoch Children’s Research Institute (MCRI), found that 60 per cent of pregnant women wanted to know as much as possible about the genetic make-up of their unborn child.
The genetic information is provided by ‘chromosome microarray analysis’ (CMA), a new form of genetic screening that goes 100 times deeper than established screening techniques.
It gives mothers warning not just of well-known genetic abnormalities that cause conditions such as Down syndrome, but also much rarer genetic abnormalities leading to unusual cognitive impairment.
The MCRI argued that giving mothers access to this information would allow them to better prepare for, or take steps to avoid, potential genetic impairments in their children.
But critics say it could lead more mothers to terminate pregnancies simply because their child may differ from the ‘norm’.
What the research found
The study covered 111 pregnant women. It gave each one the option of receiving either targeted or comprehensive results of the CMA.
Those who picked the ‘targeted’ results would only be informed of serious abnormalities that had a 100 per cent chance of manifesting – conditions such as Down syndrome, Edwards syndrome, Patau syndrome or extra/missing chromosomes.
But those who picked the comprehensive results would receive a vastly greater array of information.
Sixty per cent opted to receive the comprehensive information, and 40 per cent chose the targeted.
Those who chose the comprehensive information tended to be older and had often had trouble conceiving. Asian women were also much more likely to opt for the comprehensive information.
Professor Jane Halliday, who led the research, told The New Daily the sorts of abnormalities picked up by CMA generally led to “varying degrees of intellectual disability”.
She said that while these sorts of test are currently not offered to all pregnant women as a matter of course and are quite invasive, that could change fairly soon.
“On the close horizon – within the next few years – it’s likely that everyone will be able to have a simple test that will be able to look at all these genetic issues.”
She added, though, that implementation would be expensive.
She said adequate counselling was needed to help mothers decide whether they wanted the deep information, and how to handle it when they had it.
Emily Piggott was one of the mothers in the study who opted to receive only the limited information.
“I mainly wanted information to make a decision on whether I would terminate the pregnancy,” she told The New Daily.
“But it was also an ethical thing. I decided it was not my right to know genetic information about another person that they didn’t know themselves.”
She said she was concerned that if the information was ambiguous, she might spend her life “freaking out” about it.
Dr Tereza Hendl, a bio-ethicist from the University of Sydney, told The New Daily she was concerned that access to genetic information was already leading women to terminate pregnancies too readily.
“Society has restrictive definitions of what is normal – and often these ‘norms’ unjustly discriminate against bodily and mental difference,” she said.