BOSTON – Fetal DNA circulating in a pregnant mother’s blood can be used to detect a wide variety of genetic abnormalities before birth, opening the door for noninvasive testing for more conditions.
By sequencing DNA that escapes into women’s bloodstreams, 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 published Thursday in the American Journal of Human Genetics.
Amniocentesis, the standard procedure for prenatally testing for genetic conditions such as Down syndrome, carries a low risk of miscarriage. Obtaining DNA from a blood sample from the mother carries virtually 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 performs prenatal tests at Brigham & Women’s Hospital in Boston.
This could largely replace invasive testing, she said in a telephone interview, and, no doubt, is an exciting next step in the future of prenatal testing.
The study was done by scientists at Tufts Medical Center in Boston and Verinata Health Inc. in Redwood City, Calif. Illumina Inc., the biggest maker of DNA sequencers, said this week that it will buy Verinata for $350 million plus as much as $100 million in milestone payments through 2015.
Interest in sequencing fetuses and newborns is increasing as more laboratories are showing that DNA analysis can quickly diagnose rare diseases that once took years to unravel. The U.S. National Human Genome Research Institute and the National Institute of Child Health and Newborn Development have set aside $25 million to study questions related to sequencing newborns over the next five years.