Tests your newborn may have

For rare diseases

Babies can be tested for several rare diseases, listed below, before they leave the hospital. In some states, these tests are required by law. Even if babies seem healthy, they could have these diseases. If found early, the diseases can be treated.

Testing is simple--a few drops of blood from your baby's heel is all that's needed to test for these diseases:

• Phenylkentonuria (PKU) is an inability to digest protein normally. It can cause mental retardation and affects one in every 12,000 babies. If you leave the hospital before your baby is 24 hours old, you will need to have a PKU test done again. You will need to go to the hospital or your clinic before your baby turns 2 weeks old.
• Galactosemia is an inability to digest milk sugar normally. It can cause mental retardation, eye problems, liver damage and death. It affects one in every 50,000 babies.
• Hypothydroidism is a defect in the thyroid gland. It can cause mental retardation and a small body size. It affects one in every 4,000 babies.
• Hemoglobinopathy is several types of diseases caused by changes in red blood cells. Sickle cell disease can cause anemia, pain and, rarely, death. It affects one in every 500 African-American babies.
• Adrenal hyperplasia is a defect in the adrenal gland. It can cause abnormal sexual development, hormone problems and death. It affects one in every 15,000 babies.

There may be other tests your newborn will need.

For hearing

Your baby may also have a hearing test before leaving the hospital.

Related Links

Your hospital stay

Your newborn: Medical tests and terms

First published: 10/04/2002
Last updated: 06/19/2003

Reviewed by: Allina Patient Education experts