A simple blood test is transforming the world of prenatal screening, offering women a risk-free way to learn about fetal abnormalities early in pregnancy.
Already, the new test has dramatically reduced the demand for amniocentesis, an invasive procedure that diagnoses chromosomal disorders in mid-pregnancy and occasionally causes miscarriage.
The blood test, which became available in late 2011, can analyze DNA to predict Down Syndrome and a few other genetic diseases as early as nine weeks in pregnancy, says Dr. Daniel Gottschall, medical director of Women’s Health Connecticut, a group practice with 80 offices around the state.
“It’s almost like science fiction to see how they can do this with such a high level of accuracy,” says Leslie Ciarleglio, a genetics counselor at Hartford Hospital, where the number of amniocentesis procedures plummeted by more than 70 percent in just two years — from 112 in 2011 to 32 in 2013. “It’s far more accurate than any screening test we’ve had before.”