Fetal Genome in Mom's Blood

Scientists have sequenced the genome of an 18.5 week-old fetus using blood and saliva samples taken from the parents.

Written byHayley Dunning
| 2 min read

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FLICKR CREATIVE COMMONS, LUNAR CAUSTIC

Researchers used DNA circulating in a pregnant mother’s blood to predict which genetic variants were inherited by the fetus, with a reported 98 percent accuracy when compared to cord blood collected after birth, according to a study published in Science Translational Medicine (June 6). The University of Washington, Seattle, team also identified 39 of the 44 de novo mutations that occurred, but also identified false positives. Their new technique has the potential to replace invasive methods of investigating the fetal genome that sample the placental tissue or amniotic fluid, which can trigger a miscarriage.

“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,” co-author ...

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