Down syndrome

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A blood test can be done to check for the extra chromosome and confirm the diagnosis. See: Chromosome studies

Other tests that may be done include:

• Echocardiogram to check for heart defects (usually done soon after birth)
• ECG
• X-rays of the chest and gastrointestinal tract

Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:

• Eye exam every year during infancy
• Hearing tests every 6 - 12 months, depending on age
• Dental exams every 6 months
• X-rays of the upper or cervical spine between ages 3 - 5 years
• Pap smears and pelvic exams beginning during puberty or by age 21
• Thyroid testing every 12 months

Review Date: 10/18/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

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