A new study suggests a cheap and effective way of detecting Down's syndrome while the baby is still in the womb. Researchers claim that the new technique is 99 percent accurate and can also be used to detect other conditions, such as Edward’s syndrome and Patau syndrome.
The current procedure available to pregnant women wanting to know if their unborn child has Down syndrome uses a needle inserted to the womb to take a DNA sample. However, this procedure, called amniocentesis or chorionic villus sampling, is so invasive that it has been linked to an average of 300 miscarriages per year.
Researchers at the University College London and Great Ormond Street Hospital developed a non-invasive means of collecting DNA sample of an unborn child. The technique is as simple as taking a blood sample from the pregnant woman and tracing the DNA of her unborn child.
The blood test was tested on 25,000 women. The researchers checked for increased amount of chromosome 21 that causes Down's syndrome.
"It's a much more accurate test, it's 99% accurate for Down's syndrome so it reduces the number of [invasive] tests significantly," Professor Lyn Chitty, from the UCL Institute of Child Health and Great Ormond Street Hospital, London, U.K., told BBC News.
"In our study it reduced the number of invasive tests by more than 80%, whilst actually picking up more cases of Down's syndrome."
The new blood test is expected to prevent hundreds of deaths due to miscarriages.
"There was a very high uptake of testing and we saw invasive test numbers fall sharply. NIPT performed well in identifying problems, and women were very positive about it,” Prof Chitty told The Telegraph.
The researchers clarified that the test result is not enough to confirm Down's syndrome. Those who will get a positive result still need to undergo the needle test for final confirmation. Those who tested negative, on the other hand, will have the option to decide whether to take the needle test or not.
The study was presented at the European Society of Human Genetics annual conference and published in the journal JAMA Oncology.
