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Scientists promise ’safer’ prenatal test for Down syndrome

October 6th, 2008

Stanford test performs accurately on 18 samples

From the BBC, San Jose Mercury News, New York Times, Nature News, Stanford University press release on Marketwatch:

Stanford University researchers say they have designed a new prenatal test that uses a maternal blood sample and would be much safer than current methods like amniocentesis, according to a study published Monday.

Current prenatal genetic tests like amniocentesis and chorionic villus sampling (CVS) carry a small but significant risk of miscarriage, with estimates ranging from one-half a percent to two percent. “Right now, people are risking their pregnancies to get this information,” said Yair J. Blumenfeld, a Stanford postdoctoral medical fellow and co-author of the paper describing the technique.

Stanford scientists say their technique will allow parents to spot Down syndrome and other genetic conditions earlier in pregnancy than with amnio and CVS, avoiding the risk of miscarriage.

The study, which involved just 18 samples, was published in the Proceedings of the National Academy of Sciences. Experts urged caution until results can be confirmed in a large study.

Sequenom Inc. of San Diego, a biotech company, has said it will begin selling a similar test next June. Sequenom has tried its test on only about 400 samples and has not yet published its results in a peer-reviewed journal. The price of Sequenom’s stock has quadrupled since March.

Some relatives of people with Down syndrome fear that an easier test will lead to more abortions, shrinking the population of people with Down syndrome and eroding societal support. They say people with Down syndrome can lead fulfilling lives and were heartened when the Republican vice-presidential candidate, Gov. Sarah Palin of Alaska, gave birth this year to a boy she knew would have Down syndrome.

Testing technology “has outpaced society’s understanding of what life with Down syndrome is like,” said Mark Leach, the father of a 4-year-old girl with the condition.

6 Responses to “Scientists promise ’safer’ prenatal test for Down syndrome”

  1. Heather Says:

    The test is not the problem so much as the narrow minded patients and their equally narrow minded healthcare providers who both lack sufficient current info on DS. I hope to see the newly enacted K-B Bill change in that.

  2. Kathy Ratkiewicz Says:

    Oh, I know that prenatal testing, in and of itself, is not always bad. In the best case scenerio, if a problem is detected, parents can have time to educate themselves, prepare for the child’s birth, or plan for medical interventions for the baby if needed. The fact of the matter, though, is that prenatal screening for Ds results in a 90% abortion rate. The enthusiasm about the newest test is because too many ‘normal’ babies were being lost due to miscarriage after amniocentesis. The new test is more accurate, so it is ’safer’ for everyone…except, of course, for most of the babies w/Ds who are diagnosed prenatally.

  3. Scott Says:

    @Heather,

    Unfortunately, that most often is not the case.

  4. Heather Says:

    Prenatal testing is not always a search and destroy mission for parents. Sometimes they just want to know what’s coming down the pike.

  5. Scott Says:

    This is both sad and scary.

    It’s ironic that Stanford has received a great deal of money for Down syndrome research.

    I hope this isn’t how they spent it.

  6. Kathy Ratkiewicz Says:

    Safe? Who are they kidding? Oh, I get it…nobody ‘normal’ will be harmed by the test.

    Sorry, but I can’t get excited about the ’safety’ of this test since it is primarily a search and destroy mission for unborn babies with Down syndrome.

    Wonder why the abortion of babies with Down syndrome is not seen as a ‘disability hate crime’? Why isn’t developing tests to specifically target unborn babies with Down syndrome for destruction targeted as a disability hate crime’? They are being targeted for abortion on the basis of disability, after all.

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