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Clinical Reference Systems: Pediatric Advisor 10.0
Newborn Screening Tests
What are newborn screening tests?
Newborn screening tests are tests offered to newborns to
check for treatable diseases that can appear early in life.
These tests can detect certain diseases before they cause
serious damage. Newborns can then be given preventive
treatment. The tests are provided by state departments of
health. The diseases tested for vary somewhat from state to
state.
While newborn screening tests are likely to find newborns
with the diseases, like all tests, they are not perfect.
Sometimes they incorrectly report a disease a child does not
actually have. Therefore, all children who test positively
for a disease should be tested again. Rarely, the tests do
not identify children that actually do have the disease.
What diseases are tested for?
All states in the U.S. test for two diseases:
- hypothyroidism
- phenylketonuria (PKU).
Hypothyroidism and phenylketonuria can cause mental
retardation if they are not treated.
Most states also test for disorders of hemoglobin, including
sickle cell disease.
Many but not all states test for:
- galactosemia
- homocystinuria
- biotinidase deficiency.
If these rare diseases are diagnosed and treated early, they
can be improved or possibly cured.
How are the tests done?
The tests are run on small amounts of blood obtained by
making a tiny cut in the baby's heel. Well infants are
usually tested just before they go home from the hospital,
but not later than 72 hours after birth. Sick or premature
infants are tested at 1 week of age (earlier if a screenable
disease is suspected).
If a test does suggest your child has a disease, the health
department will contact you and your baby's doctor. If the
tests do not show any diseases, you will generally not be
contacted. Your baby's doctor usually has copies of the
newborn screening test results.
Some states require a second set of newborn screening tests
between 1 and 2 weeks of age. This is particularly
important if the newborn leaves the hospital less than 24
hours after birth.
Parents may refuse to have their newborn screened because
of their religious beliefs or, in many states, because of
their personal beliefs. Parents who refuse to have the
testing done should sign waiver forms for the medical
records.
Additional information on newborn screening tests is usually
available from your doctor or from the state health
department.
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