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A new test identifies Down syndrome in an unborn child
Last reviewed: 01.07.2025
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Down syndrome is one of the common forms of pathology caused by genetic defects.
Children born with such disorders can appear in any family, be it a family of ordinary people or high-ranking officials (Kennedy, de Gaulle).
When female and male chromosomes combine, an additional 21st chromosome is formed in each cell of the child’s body, which is the cause of this syndrome.
Until now, doctors are at a loss and cannot name the exact cause of this genetic anomaly, in which the child is not fully mentally healthy. The probability of the birth of such a child does not depend on the level of wealth or lifestyle of the parents, and the environment does not affect genetic failures.
Previously, it was difficult to determine the presence of this serious disease, but Professor Kyros Nicolaides of King's College London and a group of specialists have developed a new blood test technology that will allow the presence of the syndrome to be detected in pregnant women as early as the twelfth week.
Experts conducted clinical trials involving 2,049 women and were able to identify all cases of Down syndrome in the fetus at twelve weeks.
With 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 are faced with the choice of undergoing an invasive test. This choice is not easy, because the test is not so harmless. On average, out of 10,000 women, 527 fall into the risk group, and they are recommended to undergo an invasive test.
Statistics show that every hundredth woman who undergoes testing loses her child as a result of miscarriage.
The new method of diagnosing the syndrome determines the presence of genetic abnormalities in an unborn baby with an accuracy of up to 99%, especially since it does not have such side effects, and the expectant mother is not tormented by the choice of losing the child or giving birth to a baby with Down syndrome.
The test is done using a routine blood test to determine if there is an extra chromosome.
“I have been a leading researcher in this field for the last 20 years, and the results we have now are simply spectacular,” says Dr. Nicolaides. “It means we can tell with 99% certainty whether an embryo has a genetic abnormality. Its harmlessness also means it can be tested in pregnancies that are not at risk, so we can think about its widespread use. Invasive tests will thus be a thing of the past and will not cause harm.”
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