Down`s Syndrome Revealed

A new blood test has been developed which allows doctors to check wether unborn babies have Down`s Syndrome.The new test would mean expectant mothers would be prevented from having the currently available invasive examinations which can increase the risks of miscarriages.
Cypriot,Greek and British scientists have stated that the new technique correctly identified 14 Down syndrome cases and 26 normal foetuses in a blind test that was recently carried out. They believe it will also be possible to diagnose the condition at a very early stage.

Study author Philippos Patsalis, of the Cyprus Institute of Neurology and Genetics, said: ‘The method is simple and fast and easy to perform in every genetic diagnostic lab worldwide because it does not require expensive equipment, software or special infrastructure.

‘The test is the first worldwide to demonstrate 100 per cent sensitivity and 100 per cent specificity in all normal and down’s syndrome pregnancies examined.’

Down syndrome (DS), alsoknown as  Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It can affect approximately  1 in every 800 babies.

The physical features and medical problems that are associated with Down syndrome can vary widely from one child to another. While some children with DS  seem to need a lot of medical attention, others can lead very healthy and near to normal lives

Infants with diagnosed with Down`s Syndrome have three copies of the Chromosome 21 instead of the normal two.

It affects about one in every 700 live births but women of 40 are 16 times more likely to have a Down’s child than a 25-year-old.

At the moment all pregnant women are given the opportunityof screening to see if their baby is at risk but for a firm diagnosis, doctors must take a sample of amniotic fluid or the placenta, which can mean a 1 in 100 risk of miscarriage.

Several research teams have published studies suggesting that analysing the mother’s blood can detect Down syndrome in a foetus.

At the present moment  no commercial test available yet, but it is thought that a U.S. company hopes to introduce one within the next 12 months.The team behind the latest findings which were published in the online journal Nature Medicine, said a bigger study is needed to confirm the usefulness of their approach in Down`s Syndrome.