More accurate test for early detection of Down's syndrome developed

June 11, 2013

Researchers at the King’s College London have claimed to have developed a more accurate test for Down’s syndrome which can also be given earlier in pregnancy than current tests.
The newly developed testing method in non-invasive and involves the test of foetal DNA in maternal blood to find the possibility of Down’s in the baby with high accuracy. Unlike existing tests, the latest technique has no chances of causing miscarriage. It could reduce the number of high risk women needing an invasive test by adding an extra level of screening.
Current Tests:
In UK, all the pregnant women are offered Down’s testing. These tests initially use ultrasound, during which a pocket of fluid at the back of a baby’s neck – the nuchal translucency – is measured. Babies with Down’s syndrome tend to have more fluid than normal. If it shows positive, the women are advised to undergo further testing like Amniocentesis or Chorionic Villus Sampling which are invasive procedure and carry 1% chance of miscarriage.
What is Down’s syndrome?
Down’s syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.Down’s syndrome is the most common chromosome abnormality in humans.It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics.
Effects of Down’s on IQ:
The average IQ of young adults with Down syndrome is around 50, whereas young adults without the condition typically have an IQ of 100.A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.