A revolutionary system for testing unborn babies for life-threatening diseases has been launched by British scientists. The technique -- which is far safer than present methods for detecting conditions such as Down's Syndrome -- reveals the health of fetuses from tiny fragments of their DNA that have leaked into their mothers' bloodstream.
As a result, doctors will no longer have to take samples directly from the womb for tests.
The breakthrough should prevent thousands of miscarriages when the screening system is introduced across the country in a few years, scientists say.
"At present, if doctors want to test a fetus to find out if it has Down's syndrome, or the blood disease thalassaemia, they have to stick a needle into the womb and remove tissue that surrounds the fetus," said one of the project leaders, Stan Urbaniak of Aberdeen University, Scotland.
"Unfortunately that carries a small but significant risk of triggering a miscarriage and, given that these tests -- such as amniocentesis -- are given to tens of thousands of women every year, this causes hundreds of spontaneous abortions."
Non-invasive pre-natal diagnosis (NIPD) is being used in trials in Aberdeen and Bristol to test for the potentially fatal hemolytic disease of the newborn (HDN), which occurs when a baby with rhesus-positive blood is born to a mother who is rhesus-negative.
During birth, a baby's blood often spills into its mother's bloodstream. This can trigger a reaction in her body that immunizes her against rhesus-positive blood. Then, when she becomes pregnant again, if her new baby again turns out to be rhesus-positive, her immune defenses attack the fetus. Hundreds of babies are affected every year, and until recently many died.
Testing to find if a fetus has rhesus-positive blood is therefore crucial in dealing with the disease. The miscarriages associated with invasive testing "will not happen with the new technique," Urbaniak said.
Non-invasive pre-natal diagnosis exploits the fact that cells in a growing fetus are regularly replaced. The old ones die, break open and spill their genes into the mother's bloodstream, from which they can be retrieved.
"There are only minute fragments of foetal DNA in them," Urbaniak said. "But by using gene amplification we can create millionfold copies of the fragments, enough to be detected by special analytic techniques."
It is this system that scientists introduced a few months ago in Aberdeen and Bristol as part of a European project called Safe, or Special Advances in Fetal Evaluation. But they said further trials are needed to perfect the system.
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