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How do I know if I should be tested for Down syndrome?

Pregnancy And Down Syndrome

Kathryn J. Shaw (Maternal-Fetal Medicine, White Memorial Medical Center, Los Angeles) gives expert video advice on: Can Down syndrome be treated? and more...

How is Down syndrome diagnosed?

Down syndrome can be diagnosed through a number of means. If it is a diagnosis that needs to be made in a pregnancy, Down syndrome can be diagnosed either by chronic villus sampling, which is a test that obtains a small amount of tissue from the placenta that can then be studied to see if the foetus has Down syndrome. The alternative to that is an amniocentesis, which can be done beyond fifteen weeks -- the recommended time period is between fifteen and twenty weeks of pregnancy. If there is concern that a newborn has Down syndrome, the definitive diagnosis can be done with a blood test.

What is "chorionic villus sampling" and how is it used to detect Down syndrome?

Chorionic villus sampling (CVS) can be done between weeks 10 and 12 of a pregnancy and sometimes up to week 13. CVS involves taking a small amount of placental tissue, and this can be done either with a needle through the abdomen or through the cervix. That tissue is then sent to the laboratory and can be definitively studied to see if the infant has Down's syndrome or any other genetic syndrome that is being studied.

What is an "amniocentesis"?

An amniocentesis is a test whereby we remove about 10 to 15 cc's of amniotic fluid from the pregnancy sac. That is not very much fluid - only a couple of teaspoons. There are a number of reasons we might do an amniocentesis: it can be done for genetic purposes and can also be done to study other issues with the developing foetus.

Can Down syndrome be treated?

Because it involves a genetic abnormality that cannot be reversed, there is no way to treat - in terms of curing - Down syndrome. Down syndrome involves mental limitations and physical abnormalities. There are a number of things that can be done to enhance the quality of life for that individual. It is important that Down syndrome is identified early and addressed in a comprehensive manner.