Down’s discovery could help detect other disorders

A REVOLUTIONARY non-invasive technique for testing whether a foetus has Down Syndrome could be used to detect four other congenital disorders, the doctor leading the research said yesterday.

Cyprus Institute of Neurology and Genetics Medical Director, Dr Philippos Patsalis, who led the pioneering research said: “Currently the focus is on Down Syndrome, which is one of the most common genetic birth defects, but of course the next step is to develop tests for others like cystic fibrosis.”

His method was 100 per cent successful in detecting Down Syndrome in 80 initial test cases, however more comprehensive tests will be carried out to validate the method, before the team moves onto other genetic defect like Patau and Edwards syndromes.

Patsalis said several testing centres will undertake these tests in the next two years, with a goal to sample 1000 pregnant women in total. After that the testing procedure could become commercially available around the world, allowing doctors to screen for Down’s.

Patsalis said: “We have already patented the method and the aim is to make it commercially available.  After we have finished this validation study we will open the procedure to the public.”

In the mean time mothers will have to wait or opt for the more invasive procedure, which runs a one per cent chance of losing the foetus.

Asked about the research, Patsalis said that several other research organisations had been working on similar projects for the past five years.

The project received funding from ther European Commision, the Cyprus Institute of Neurology and Genetics, the University of Cyprus, The Greek State Scholarship Foundation, Mitera Hospital in Athens and the Wellcome Trust and the researchers are now seeking funding for the validation tests.

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