Down syndrome test breakthrough 'on the horizon'

March 8, 2011 by Charlie Charalambous

A less risky non-invasive procedure based on maternal DNA to diagnose Down syndrome could be generally available to pregnant women by 2013, a Cyprus researcher said Tuesday.

"Down's Syndrome, or Trisomy 21, is the most common cause of mental retardation with an incidence of one in 600 births," Philippos Patsalis of the Institute of Neurology and Genetics in Nicosia told reporters.

"This method can apply to all pregnancies not only those at risk," he added, describing it as "one of the most important milestones in the history of the institute."

He said the cheaper and quicker method of blood sampling rather than collecting fluid from the womb will encourage more couples to take the test and therefore slowly eradicate the disease.

"There is no cure, so this is a test for couples who want to know and prevent it, they are the ones who must decide on the fate of the pregnancy."

currently used for prenatal diagnosis -- in the 16th week of pregnancy -- pose a one percent risk of foetal loss.

The diagnosis is therefore only made available to high risk women, which fails to catch all cases.

"Over the last few years, scientists have been looking for a new, non-invasive method, offered to all pregnancies and not associated with any risk of miscarriage," the 48-year-old doctor said.

The preliminary report, published in the journal Nature Medicine, is the latest of several recent studies that indicate scientists can detect Down's syndrome through simple DNA blood tests.

Patsalis said the new test would be faster as it could take less than five days to obtain results, while not requiring specialised or complex lab equipment or know-how.

"The test can be easily introduced into every genetic diagnostic lab in the world," he said.

Down's syndrome is caused by having an extra copy of chromosome 21 and the risk increases as a woman gets older.

Currently, pregnant women receive blood tests and ultrasound to find out if the foetus is at risk before invasive action is taken for a definite diagnosis.

The latest research involved scientists in Cyprus, Greece and Britain using a sample of women with Greek ethnic origin.

A larger scale clinical study using 1,000 women of different ethnic origin -- to test the current 100 percent accuracy levels -- is now being prepared to take place in Europe, Japan, Australia and the United States.

Patsalis said his team is also researching modifying the method so it can be used to test for other genetic diseases such as cystic fibrosis.

In the trial, Patsalis' team correctly diagnosed 14 cases where there were extra copies of , and 26 normal cases.

There is no such commercial test available to .

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5 / 5 (1) Mar 08, 2011
Down syndrome is not a disease. So when you refer to 'eradicating the disease' what you are really saying is this will eradicate human beings. A whole segment of the population who have one little extra chromosome. Down syndrome is not some disease to be wiped out; but unfortunately babies with Ds are being wiped out by inaccurate portrayals and misinformation of what life is like for someone with Ds and raising someone with Ds. Yes I have a daughter with Ds. She is 8 years old and deserves every chance at life and happiness just like her 3 yr old brother.

And if discovering this "new and improved way" of prenatal testing is the most important thing in the history of this institute, then I guess they haven't done much of anything have they?

What needs to be done is research to help those living with Ds lead more self-sufficient lives. What needs to be done is educating the rest of the world on the value that those with Ds bring to this world. Compassion, acceptance, inclusion.
5 / 5 (1) Mar 09, 2011
Wow, I can not agree MORE with mdbeau !!
This news story makes me want to cry my eyes out. I have a 6 year old daughter with DS
Her Birthday was today. We have been celebrating her birth for the last 3 days. She is the joy of our lives, go ask her 8 year old brother who just adores and loves her .
To read (above news story) that world views her as diseased truly turns my stomach.
She does not need to be cured of anything!, She is perfect just as she is & the greatest thing to happen to my Family.
-a Dad

5 / 5 (1) Mar 09, 2011
You are "Spot on" mdbeau!

Here is what I propose. Someone needs to pull funding from the Institute of Neurology and Genetics in Nicosa.

How is it that an Institute of this nature, not only is ignorant in defining DS as a disease, they've wasted all of this money trying to encourage aborting the most beautiful species of people I have ever met. What next? Pre-natal research geared at determining whether or not your baby will have autism? Dear God..what has the human race turned into? Be careful everyone, because if you are not what society deems as "perfect" this institution may come up with a test to "eradicate" you.
not rated yet Mar 21, 2011
Wow really? Does this NOT sound like what the Nazi's were trying to do back in the 30's and 40's with trying to find the "supreme being" or the perfect DNA. And we donate money to these people to spout this BULLSHIT? I am sorry for the language but this really gets me angry.

I myself do not have any children or family members with Downs Syndrome BUT I DO HAVE FRIENDS who have brothers and sisters with DS. Really people? How about focusing on something WE CAN DO SOMETHING ABOUT. Cancer for instance? DS is not a disease it just happens they have an extra chromosone, they are HUMAN BEINGS. How can you look at a child and actually print this shit? What I would REALLY love to know is where the funding is coming from?

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