Which imaging studies may be performed in the workup of Down syndrome?

Updated: May 18, 2020
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Current evidence does not support performing routine screening radiographs for the assessment of potential atlantoaxial instability in asymptomatic children. However, imaging studies that may be considered include the following:

  • Echocardiography in every newborn suspected of having trisomy 21 to identify congenital heart disease, since approximately 50% of those with Down syndrome will have congenital heart disease

  • Ultrasonography

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