Doctors may soon be able to diagnose a baby’s genetic health by taking a blood sample from the mother.
Researchers in Hong Kong have pieced together the entire genetic blueprint of an unborn baby from snippets of DNA in the mother’s blood, the team reports in the Dec. 8 Science Translational Medicine. The scientists were able to determine the baby’s genetic makeup well enough to test for a genetic disease.
The accomplishment “is a relative tour de force,” says Laird Jackson, a medical geneticist at Drexel University in Philadelphia. “It’s opened the door on something that people have dreamed about for a while.”
Determining a baby’s genetic makeup from a mother’s blood sample could circumvent the need for invasive procedures such as amniocentesis or chorionic villus sampling, says Sinuhe Hahn, a molecular biologist at the University of Basel in Switzerland. Those procedures, now used for prenatal genetic testing, result in miscarriages in about 1 percent of cases, Hahn says. A new test based on the mother’s blood would be much safer and could provide an unprecedented wealth of genetic information about the fetus, he says.