A simple blood test could be effective in detecting Down syndrome, eliminating the need for about 98 percent of invasive tests currently carried out, reports the British Medical Journal.
Researchers at the Chinese University of Hong Kong used cutting-edge DNA technology in order to test blood samples taken from 753 pregnant women who were considered at high risk for carrying a child with Down syndrome. The tests detected 86 cases of the condition, showing the results to be highly accurate with no false negatives.
Current testing procedures require amniocentesis or chorionic villus sampling in order to fully assess for Down syndrome. These invasive tests carry a one percent chance of miscarriage, so the researchers hope the blood test can help reduce the number of women undergoing invasive testing.
Occuring in about one out of every 800 births, down syndrome, also known as trisomy 21 since the infant carries an extra copy of the 21st chromosome, is usually accompanied by distinctive facial features and delayed cognitive development.