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

Content provided by Healthwise

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. The United States Preventive Services Task Force recommends that all newborns be screened for hearing loss.²
• 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 arise 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.³

References

Citations

1. Committee on Genetics, American Academy of Pediatrics (2001). Health supervision for children with Down syndrome. Pediatrics, 107(2): 442–449.

2. U.S. Preventive Services Task Force (2008). Screening for newborn hearing loss. Available online: http://www.ahrq.gov/clinic/uspstf/uspsnbhr.htm.

3. Elias ER, et al. (2007). Chromosomal disorders: Abnormal number section of Genetics and dysmorphology. In WW Hay et al., eds., Current Pediatric Diagnosis and Treatment, 18th ed., pp. 1031–1032. New York: Lange Medical Books/McGraw-Hill.

Credits

Last updated:	August 09, 2007
Author:	Debby Golonka, MPH
Reviewed By:	Adam Husney, MD - Family Medicine, David Smith, MD - Family Medicine
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman, MATC