Down syndrome: Newborn tests (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. Your child needs routine checkups (well-child visits) like all children do. He or she also needs certain tests to check for early signs of health issues that are common among people who have Down syndrome. The sooner health issues are recognized, the better they can be managed.

The American Academy of Pediatrics has testing guidelines for newborns (birth to 1 month of age) who have Down syndrome. Some of the tests include:

  • 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 blood test to check for thyroid problems (such as hypothyroidism). These problems are rare at birth but may arise later in life.
  • A complete heart evaluation by a children's heart specialist (pediatric cardiologist) using echocardiography. About half of the babies who have Down syndrome have heart defects.1

Doctors also use the Down Syndrome Medical Interest Group's health care guidelines for people who have Down syndrome.

Citations

  1. Elias ER, et al. (2009). Chromosomal disorders: Trisomies section of Genetics and dysmorphology. In WW Hay et al., eds., Current Diagnosis and Treatment: Pediatrics, 19th ed., pp. 999–1002. New York: McGraw-Hill.

Last Updated: August 4, 2009

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