Down syndrome: Testing for a newborn (birth to 1 month of age)

Down syndrome can cause a variety of health problems related to physical and mental functions. These problems vary in number and severity for each individual. The American Academy of Pediatrics recommends the following tests for newborns (birth to 1 month of age):1

  • Karyotype testing, if not already done, to confirm a diagnosis of Down syndrome.
  • Hearing tests, which may be done at birth or by 3 months of age.
  • A complete blood count (CBC). This test is given to check for signs of leukemia. Although leukemia at birth is rare, it is slightly more common in babies with Down syndrome.
  • A blood test to check for thyroid problems (usually hypothyroidism). These problems are rare at birth but may develop later in life.
  • A complete heart evaluation by a children's heart specialist (pediatric cardiologist) using echocardiography. About half of babies with Down syndrome have heart defects.2


Author: Debby Golonka, MPHLast Updated: August 9, 2007
Medical Review: Adam Husney, MD - Family Medicine
Michael J. Sexton, MD - Pediatrics
David Smith, MD - Family Medicine

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