Newborn screening tests are
tests 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.
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 cured.
