What is newborn screening?
Newborn screening is a program for testing all babies for some health conditions. If one of these health conditions is found, it can often be treated. Early detection and treatment may help avoid more serious health problems later in life. Is newborn screening the same everywhere in the United States?
Each state runs its own newborn screening program. As a result, there are some differences between states. If you areconcerned about a particular condition, talk to your health care team.
Which health conditions are covered by newborn screening?
The health conditions included in newborn screening programs vary by state. In general, the conditions fall into 3 categories:
1. Genetic – all states screen for at least 20different genetic conditions, including:
• Hypothyroidism
• Cystic fi brosis
• Sickle cell anemia
• Phenylketonuria
• Vitamin B12 disorders
2. Hearing loss – almost all states screen for hearing loss
3. Critical congenital heart defects (CCHD) –some, but not all, states screen for this group of conditions
When is newborn screening performed?
Babies are initially screened within 24 to 48 hours after birth. All babies born in a hospital are screened automatically. If the baby is sick or unable to eat, the screening tests may have to be repeated.
How is newborn screening performed?
The screening test depends on the condition.
• Genetic conditions require a blood test. The health care team will prick your baby’s heel and put a few drops of blood on special paper. This paper is sent to a laboratory for testing
• For the hearing test, a small, soft speaker is placed into your baby’s ear. The test takes 5 to 10 minutes and is often done while the baby is sleeping
• Screening for heart defects includes pulse oximetry, which measures the amount of oxygen in the blood. For this test, small sensors are attached to the baby’s hand and/or foot. The test takes 5 to 10 minutes
What happens if my baby’s screening results are not normal?
Most babies have normal screening results. If one or more of the results are not normal, your baby will need more testing. If the results of the additional tests are not normal, your health care team will talk with you about next steps. Many conditions found using newborn screening can be treated.
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Glossary
Congenital – present at birth
Cystic fibrosis – genetic
disease that affects the lungs
and digestive system
Hypothyroidism – underactive
thyroid, a gland that produces
hormones to control many of the
body’s functions
Phenylketonuria – genetic
disease that keeps the body from
breaking down a substance found
in foods that contain protein
Pulse oximetry – test that
measures the amount of oxygen in
the blood using a sensor on the skin
Sickle cell anemia – genetic
disease that causes red blood
cells to form in an abnormal shape
Vitamin B12 – important
nutrient for the body’s nerve
and blood cells
