Fetal DNA circulating in pregnant mother's blood can be used in detecting genetic deformities

The fetal DNA circulating in a pregnant mother’s blood can be used in detecting a wide variety of genetic abnormalities before birth, which opens doors for non-invasive testing for more conditions.

By sequencing DNA that escapes into women’s blood streams, the scientists were able to detect disease-causing mutations that are now normally found by piercing a mother’s womb with a needle to get amniotic fluid, according to a study in American Journal of Human Genetics.

Getting the DNA from a blood sample from the mother carries no risk and may enable doctors to expand their reach and accuracy as they look for genetic disease, said, Cynthia Morton, a Harvard Medical School geneticist who performed prenatal tests at Birgham & Women’s Hospital in Boston.

The study was done by scientists at Tufts Medical Center in Boston and Verinata Health Inc in Redwood City in California. Besides, Illumina Inc, the biggest drug maker of DNA sequencers said it will be buying Verinata for $350 million plus as much as $100 million in milestone payments through 2015.

The interest in sequencing fetuses and newborn is increasing as more labs are showing that DNA can quickly diagnose rare diseases that once took years to unravel.

The U.S. National Human Genome Research Institute has set aside $25 million to study the question pertaining to fetus sequencing newborns over the next five years.

Verinata and other companies are already offering blood tests that analyze circulating fetal DNA to diagnose Down Syndrome, a genetic condition in which a baby is born with three copies of chromosome 21, instead of the normal two.

The same tests can also detect other conditions in which the fetus has too many copies of certain chromosom es, which are the packages that hold large amounts of DNA within the cell’s nucleus.