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Friday, November 25, 2005

Testing for birth defects

I'm 13 weeks pregnant. If there are no known defects on my side or my bf's side of the family, is it still worth testing for this?

My friend who just had a healthy baby girl in October had a triple screen test done and it came back positive for Down's symdrome. She went back for another test and it was fine. Would you advise against the triple screen testing? Thanks.

Stephanie

Dear Stephanie,

I definitely recommend the triple screen test.

It is important to understand what these tests can and cannot do. For example, you mention that your friend had a triple screen test that was positive for Down's Syndrome. That's a common misunderstanding. The triple screen test is a screening test. That means that it identifies babies who are at risk of Down's Syndrome. It cannot tell which babies actually have Down's Syndrome. So a positive result does not mean that the baby has Down's Syndrome.

There are many more babies who are at risk than babies who actually have Down's. Another test is necessary to find out the diagnosis. This test is amniocentesis. In amniocentesis, a needle is used to take out some amniotic fluid. There are cells from the baby in the fluid. Looking at these cells under a microscope can identify which babies have Down's.

If you have a family history of birth defects, you are at increased risk for having a baby with birth defects. However, most babies who have birth defects are born into families that have no family history. That is why the triple test is recommended for everyone.

Sincerely,
Amy

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