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Down Syndrome

Q: What is Down Syndrome?† How important is it for me to be screened for it when I'm pregnant?


Dr. Donnica:
Down Syndrome is a genetic disorder resulting from having an extra chromosome, number 21 (3 copies instead of 2).† It is the most frequent cause of mild to moderate mental retardation in the United States.† In addition, babies born with Down syndrome may have numerous medical problems, including: heart defects; speech, hearing, or vision problems; seizures; stomach or intestinal disorders; trouble swallowing; thyroid problems; bone and joint problems; and leukemia.† Early learning intervention programs are highly recommended.

The only way to diagnose this disorder before birth is with an amniocentesis.† This procedure involves inserting a needle into the amniotic fluid under ultrasound guidance, withdrawing a small amount of fluid, and then testing it. This is usually recommended for mothers over the age of 35, when the risk of genetic abnormalities greatly increases OR for those parents who have a family history of any genetic abnormalities. Amniocentesis carries its own risks (notably the risk of miscarriage or infection), so it is not a procedure for all women.

Another screening test is available -- a blood test for alpha-fetal protein, or AFP.† If this is abnormal, an ultrasound is recommended.† Women should know that an abnormal AFP should not be a cause for alarm as it has many false positive results.† Women should also know that an ultrasound exam alone is NOT a sufficient screening test for Down syndrome (Journal of the American Medical Association, 2/28/01).


Created: 5/17/2001  -  Donnica Moore, M.D.


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