What is the role of lab tests in the workup of Down syndrome?

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

A complete blood count (CBC) with differential and bone marrow examination to rule out leukemia is indicated. Thyroid-stimulating hormone (TSH) and thyroxine (T4) levels should be obtained at birth, at 6 and 12 months, and annually thereafter, to rule out hypothyroidism. Perform Papanicolaou smears every 1-3 years in sexually active women starting at the age of first intercourse.

Commonly performed studies in individuals with Down syndrome include the following.


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