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Breakthrough in Down Syndrome Testing - CING

blood test for down syndromeScientists at the Cyprus Institute of Neurology and Genetics (CING) have made a breakthrough in testing methods for detecting Down Syndrome, said Dr. Philippos Patsalis speaking at a press conference in Nicosia.

Dr. Patsalis and his team have developed a new blood test for Down Syndrome which only uses a small amount of blood from pregnant women. The development is good news for pregnant women who currently have to endure a needle inserted through their bellies into the amniotic sac in order to test for Down Syndrome.

The study involved the collection of 10ml of blood, at 11-14th week of gestation, from 80 pregnant women, of which 34 were from pregnancies carrying a fetus with Down syndrome and 46 pregnancies carrying a normal fetus.

All normal and all Down syndrome cases were correctly identified and the development and validation of the novel method has just been published in Nature Medicine.

Down Syndrome - or Trisomy 21 - is the most common cause of mental retardation and occurs in 1 in 600 births. It is caused by the presence of an extra chromosome 21 which leads to physical and intellectual impairments.

Once fully tested, the new method will bear no risks for miscarriage. It is also a fast method as the results can be obtained within 4-5 days.

Dr Philippos Patsalis and his team are now in the process of performing a larger-scale clinical study as the next step before the introduction of the new test into clinical practice. 


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