How is the diagnosis of Down syndrome confirmed?

Updated: Apr 30, 2018
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Answer

The diagnosis of Down syndrome is most commonly made by prenatal screening followed by definitive diagnostic testing. When prenatal diagnosis has not been made, Down syndrome is usually apparent from the clinical examination of the newborn. Diagnosis should be confirmed through chromosomal analysis. Since Down syndrome is associated with multisystem involvement, additional diagnostic studies are performed as appropriate.


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