The new diagnostic tool developed by the U.S. company Ravgen is very safe than the earlier tests and poses no threat to the mother or fetus. The test uses fetal DNA extracted from mother's blood samples to screen for chromosomal abnormalities.
According to the reports in the Lancet medical journal, researchers studied 60 pregnant women where the test showed optimistic results for Down's syndrome, one of the most common genetic abnormalities, in two cases.
The Guardian's London edition quotes Ravinder Dhallan, lead author of the study and the head of Ravgen as saying, "Right now in the market there is no test available that can reliably do what we do in this study which is, without needing any invasive procedure, to determine whether a baby has an abnormality or not."
Down syndrome or trisomy 21 (also Down's syndrome) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who first described it in 1866. The condition is characterized by a combination of major and minor differences in body structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome is usually identified at birth.
The risk of having a Down's baby is directly proportional to mother's age. The more the mother's age, the risk involved increases. Researchers claim that the test could be adapted to look for abnormalities in any chromosome or single gene disorders.
"In this paper we show proof of principle of how this technology works," he said.
Women 35 years and older have been advised to have genetic testing for Down's syndrome and other disorders. However, the American College of Obstetricians and Gynecologists has recommended that all women be given the option of having genetic testing.
