What are
newborn screening tests?
Newborn screening tests are blood tests
given to infants just after they are born. These tests check
for certain disorders before they cause serious damage.
Newborns can then be treated to prevent problems later in
life. The tests are provided by state departments of health.
Different states have different rules about which tests are
done.
Newborn screening tests are not perfect.
Sometimes they show that a child has a disease that the
child does not actually have. All children who test
positively for a disease should be tested again. Rarely, the
tests do not identify children who actually do have the
disease.
What diseases
are tested for?
All states in the U.S. test for 4 diseases:
- hypothyroidism. If babies do not have
enough thyroid hormone, they may not develop normally.
- phenylketonuria (PKU). This can cause
mental retardation if not treated early.
- galactosemia. This condition can cause
blindness, mental retardation, and growth problems if
not treated.
- hemoglobinopathy, including
sickle-cell disease. Blood diseases may cause newborns
to be at risk for dangerous infections.
Many but not all states test for:
- homocystinuria. This disorder can
cause mental retardation, blood clotting problems, and
skeletal problems.
- congenital adrenal hyperplasia. This
disorder may cause death if not treated.
- biotinidase deficiency. This disorder
may lead to seizures, hearing loss, mental retardation,
and problems with the immune system.
If these rare diseases are diagnosed early, they can be
treated. Some can be completely cured.
Some states test for amino acid, organic
acid, and fatty acid oxidation defects. In other states
these tests are only available through private testing labs.
Early diagnosis and treatment of these disorders may help to
prevent serious problems like mental retardation. Ask your
health care provider about these screening tests.
How are the
tests done?
Your child's health care provider makes a
tiny cut in the baby's heel to get a small amount of blood
to test. 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, or earlier if a screenable disease is suspected.
If a test suggests 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.
If your baby needs a blood transfusion,
blood tests should be done before the transfusion.
Some states provide a second set of newborn
screening tests between 1 and 2 weeks of age. This is
important if the newborn leaves the hospital less than 24
hours after birth.
Parents may refuse to have their newborn
screened because of religious beliefs or personal beliefs.
Parents who refuse to have the testing done must sign waiver
forms.
Additional information on newborn screening
is available from your health care provider or from the
state health department.
