Doctors market accurate DNA test for Down’s Syndrome

Doctors market accurate DNA test for Down’s Syndrome

15 month old Grady Witkowski has Down’s Syndrome. His mother, Erin knew about his condition 20 weeks into her pregnancy.
“He’s joy, he smiles and he laughs, he’s everything I ever wanted in a son. He really is. I never would have thought I would have said that at 20 weeks pregnant, but as he grows and we get to know him, he embodies life and he’s got a personality and future and hope and we see all of that in him,” she says.
For years, many women have gone through an experience like hers: a blood or ultrasound test that indicates a heightened risk of the syndrome, followed by a medical procedure to make a firm diagnosis by capturing DNA from the foetus.
Usually it’s the needle procedure called amniocentesis, done almost four months or more into the pregnancy. Sometimes it’s an earlier test called CVS, or chorionic villus sampling, which collects a bit of tissue from the placenta.
Both pose a tiny, but real chance for miscarriage.
But by this time next year an alternative might be more widely available to women that offers accurate results as early as nine weeks into the pregnancy.
AP Science Writer, Malcolm Ritter says:
“Right now there are blood tests that indicate a risk of carrying a Down’s Syndrome pregnancy for confirmation, the woman goes on to amniocentesis, where a needle is slipped into the belly to get DNA after 15 weeks of pregnancy. This new blood test will give a firmer answer than the current blood tests, and do it several weeks earlier than amniocentesis.”
The test would retrieve foetal DNA from the mother’s bloodstream.
It was developed at the University of Hong Kong and so far the sophisticated equipment required for the test means blood samples have to be sent there.
That’s a time consuming and expensive process.
Soon the answer could come before the pregnancy is obvious to others.
Two California companies, Sequenom Inc. and Verinata Health Inc., hope to offer the test to doctors in the United States by next April. They say it could be done in the first trimester, with Sequenom aiming as early as 10 weeks, and Verinata as early as eight weeks. Results would be available 7 to 10 days later.
In addition, LifeCodexx AG of Germany says it wants to start offering its test in Europe by the end of this year, to be performed at 12 to 14 weeks initially. None of the companies would discuss its cost.
For some women, the new test might mean termination is a more tenable choice. For others it could be a mixed blessing.
Down’s Syndrome slows mental and physical development, and people with it usually show mild to moderate disability in intellect and skills for everyday living.
Health risks include heart defects and hearing problems. Life expectancy is about 60 years.
Marcy Darnovsky, Centre for Genetics and Society says:
“From our point of view at the Centre for Genetics and Society we really need to do that in a way so that we’re not in any way impacting women’s reproductive rights, that we’re respecting women as decision makers about the future of their families, but that at the same time making sure we’re not going down what could be a really disastrous path towards designer babies, and human clones and a world with hundreds of millions of missing girls and those sorts of things.”
Current prenatal screening has already cut the number of babies born with the syndrome, which now stands at about 6,000 each year in the United States, or about 1 in every 691 babies according to the National Down’s Syndrome Society.
It’s figures like this that concern mothers like Witkowski.
Witkowski says immediately after the test returned positive, her then doctor suggested termination. She rejected immediately and says she’ll never regret that decision.

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