Parents-to-be may have one fewer risk-based decision to make during pregnancy. A company that develops prenatal tests says a blood test may be able to detect potential birth defects without the risks that the current test, amniocentesis, carries.
In a study published in the American Journal of Human Genetics, researchers at Verinata Health and Tufts Medical Center showed that the test detected chromosomal abnormalities in 11 pregnant women with no false positives and no false negatives.
Unlike amniocentesis, which uses a needle to retrieve amniotic fluid and causes a small number of miscarriages (about 1 in every 200-400 cases), the new test relies on genetic sequencing. Previously, the technique had been done only with tissue from the placenta.
“What’s impressive about this paper is that they were able to do the same thing as microarray, which is of course totally invasive,” Jacob Kitzman, a graduate student at the University of Washington, told Time. “There’s zero risk from a blood draw and potentially this could be extended to expectant mothers who don’t have access to clinicians who can do more invasive tests.”
Already, a blood test that detects Down syndrome is on the market; the company expects the expanded version to be available in a year or so, according to Time.
While the decision to get the test may be easier for new parents, decisions about what to do with the information remain difficult.
“The easier it gets to get information about a fetus,” Dr. Ronald Wapner, director of reproductive genetics at Columbia University Medical Center, told Time, “the more careful we have to be about how we use our technology.”