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...
  • Print

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.

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!