Blood Test Spots Genetic Diseases In Fetuses

By Amir Khan on June 8, 2012 10:37 AM EDT

Blood Test
In the near future, fetuses may be able to be screened for genetic diseases with a simple blood test, according to a new study (Photo: Creative Commons)

In the near future, fetuses may be able to be screened for genetic diseases with a simple blood test, according to a new study, published Wednesday in the journal Science Translational Medicine. Researchers mapped the genome of an 18-week-old fetus, and said the findings could help screen for thousands of diseases.

"This work opens up the possibility that we will be able to scan the whole genome of the fetus for more than 3,000 single-gene disorders through a single, non-invasive test," Dr. Jay Shendure, study coauthor and associate professor of genome sciences at the University of Washington, told BBC News.

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Only a few genetic diseases, such as Down syndrome, are currently tested for, but the process is invasive and comes with a risk of miscarriage. The new findings could screen for thousands of diseases with little, if any, risk.

"Many of these diseases are so rare that most people have never heard of them, but collectively they affect around 1% of births," Shendure told WebMD.

Researchers used a blood sample from the mother, which naturally contains DNA fragments of the fetus, and saliva from the father to build a map of the fetus' genome. When the baby was born, they compared the map to its actual DNA and found that it was 98 percent accurate.

While a non-invasive genetic test may be on the horizon, experts are unsure how exactly the information gained from the test will help parents and doctors.

"It's interesting, very clever and also technically very challenging," David Bonthron, professor of molecular medicine at the University of Leeds, who was not involved in the research, told BBC News.

He said genetic tests would raise several ethical questions.

"What are you going to do with the information?" he said. "That's a societal question, it's a question about what society thinks is acceptable."

Shendure agreed, telling WebMD that scientist's ability to collect data has outpaced their ability to utilize said data.

"Although the noninvasive prediction of a fetal genome is now technically feasible, its interpretation ... will remain an enormous challenge," he said.

Josephine Quintavalle, a spokesman from the Pro-life Alliance, told BBC News that genetic testing will lead to parents using the information to justify aborting a fetus with a genetic condition.

"Information itself may be neutral but genetic testing in utero currently almost inevitably leads to abortion of the unborn child," he said. ""The easier and more comprehensive the test the more likely it is that such abortions will increase." 

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