Scientists have successfully mapped the genome of a baby in the womb by giving mom a simple blood test and dad a non-invasive saliva swab. They hope their test could one day serve as an alternative for riskier, more invasive methods currently used to determine whether an unborn child is genetically predisposed to disease.

Scientists at the University of Washington collected blood samples from a woman at about 18 weeks into pregnancy and then took a saliva specimen from the father. They used a newly developed technique to determine which genetic variants would pass from the mom to the child. To test the accuracy of their genetic predictions, the researchers collected blood from the baby's umbilical cord at birth. The scientists found they were 98 percent accurate in their predictions. The technique also detected 39 of a baby's 44 de novo mutations, new mutations in the fetus that weren't originally present in the mother. These mutations have been tied to autism, epilepsy and other conditions.

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, said study co-author Dr. Jay Shendure, an associate professor of genome sciences at the University of Washington, said in a statement. Although each specific inherited disorder is rare and affects about one percent of newborns, the serious nature of these diseases often calls for special medical attention.


More. . .