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Kids With Special Needs: Diagnosing Down Syndrome

How is Down syndrome diagnosed?
Most newborns with Down syndrome have recognizable features: slanted eyes with extra skin at the inner corners of the eyes ("epicanthal folds"), a flattened nasal bridge, downturned corners of the mouth, extra skin at the neck, single creases of the palms, extra space between the big and second toes and a protruding tongue. Not all infants with Down syndrome will have all features, and some of the features may be barely noticeable.

The diagnosis is confirmed through a blood test of the baby's chromosomes, called a "karyotype." The blood test usually takes 4 to 7 days, and is run by a genetics lab.
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