New test detects Down syndrome in unborn baby
Last reviewed: 23.04.2024
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Down's syndrome is one of the most common forms of pathology caused by genetic malfunctions.
Children born with such disabilities may appear in any family, be it a family of ordinary people or high-ranking officials (Kennedy, de Gaulle).
When the female and male chromosomes are combined, an additional 21 chromosome is formed in each cell of the child's body, this is the cause of this syndrome.
Until now, doctors are lost in conjecture and can not name the exact cause of this genetic anomaly, in which the child is not fully healthy mentally. The probability of the birth of such a child does not depend on the level of well-being or the way of life of parents, nor does it affect genetic failures and ecology.
Earlier it was difficult to determine the presence of this serious disease, but Professor of the Royal College of London Kyros Nicolaides with a team of specialists developed a new technology for blood analysis, which will identify the presence of the syndrome in pregnant women as early as the twelfth week.
Specialists conducted clinical trials with the participation of 2,049 women and at the time of twelve weeks were able to identify all cases of fetal Down syndrome.
With the help of this technology, scientists hope to save thousands of lives, because at the moment dozens of women at risk of giving birth to children with genetic abnormalities face the choice of passing an invasive test. This choice is not easy, because the test is not so harmless. On average, out of 10,000 women, 527 are at risk, and they are recommended to undergo an invasive test.
Statistics show that every hundredth woman, tested, loses her child as a result of miscarriage.
A new method for diagnosing the syndrome determines the presence of genetic abnormalities of an unborn baby with an accuracy of up to 99%, the more it does not have such side effects, and the future mother does not worry about choosing, losing a child or giving birth to a baby with Down syndrome.
The test is carried out using an ordinary blood test, which determines the presence of an extra chromosome.
"I've been a leading researcher in this field for the last 20 years, and the results we have to date are just impressive," says Dr. Nicolaides. "This means that we can determine with 99% probability if the embryo has genetic abnormalities." Its harmlessness also allows you to test pregnant women who are not at risk, that is, you can think about its mass application. Thus, invasive tests will remain in the past and will not cause harm. "
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