Simple blood test will warn of Down's syndrome baby

01 February 2016 - 02:19 By Katharine Child

Women can now be tested to find out if their unborn baby has Down' s syndrome with a simple blood test. The new test, just launched in South Africa, is safer than the one commonly used until now, which requires a doctor to draw amniotic fluid from the uterus, increasing the risk of miscarriage.The tests detects a baby's DNA in a mother's blood. It is conducted in Switzerland by genetic testing company Genoma, but on offer through South Africa's Intercare day hospital group.It costs around R8000 including courier fees and results take five days once the test reaches the Swiss lab."People used to learn about Down's Syndrome to terminate the pregnancy . But that is not the always the case anymore" said Genetic Counsellor Noelene Kinsley."It is such a shock to have a baby and learn that the baby has Down's Syndrome. Having a test can help parents prepare for their child," said genetic counsellor Suretha Erasmus. This breakthrough is the latest reduced-cost genetic test available in this country.Discovery Health is launching an "exome test" next month that examines DNA to assess susceptibility to nearly 200 diseases.Discovery Health CEO Jonathan Broomberg said: "This test will analyse a substantial proportion of the clinically relevant part of a person's DNA."It will be able to provide valuable information on how people might respond to specific medications, as well as [their susceptibility to about] 200 conditions for which the evidence linking DNA changes to disease risk is strong."It is important to emphasise that this is not a diagnostic test."Discovery said that the R5000 test was the cheapest of its kind in the world.Exome testing is done in the US at a lab run by Craig Venter, one of the two men who first sequenced the human genome.His company, Longevity, uses anonymous data to create huge data sets on disease, and researches genetics."As more genetic data are collated, scientists will better understand the relationship between gene mutation and the risk of disease, and ultimately [how] to increase our healthy lifespan," said Discovery.Discovery recommends genetic counselling before undergoing the new tests...

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