Newborn screening is a public health service done in each U.S. state. Every newborn
is tested for a group of health disorders that aren't otherwise found at birth.
With a simple blood test, doctors can check for rare genetic, hormone-related,
and metabolic conditions that can cause serious health problems. Newborn screening
lets doctors diagnose babies quickly and start treatment as soon as possible.
Which Screening Tests Are Offered?
Screening varies by state. Tests offered can change as technology advances and
treatments improve. Although there are national recommendations for newborn screening,
it is up to each state to decide which tests to include.
Newborn screening includes tests for:
Metabolic problems. Metabolism is the process that converts food
into energy the body can use to move, think, and grow. Enzymes are special proteins
that help with
by speeding up the chemical reactions in cells. Most metabolic problems
happen when certain enzymes are missing or not working as they should. Metabolic disorders
in newborn screening include:
medium chain acyl CoA dehydrogenase (MCAD) deficiency
Hormone problems. Hormones are chemical messengers made by glands.
Hormone problems happen when glands make too much or not enough hormones. Hormone
problems in newborn screening include:
Hemoglobin problems: Hemoglobin is a protein in red blood cells
that carries oxygen throughout the body. Some of the hemoglobin problems included
in newborn screening are:
Most states also screen for hearing loss
and critical congenital heart disease.
Talk to your doctor if you think your baby may need other newborn screening tests
not offered through your state program.
How Is Newborn Screening Done?
A small blood sample taken by pricking the baby's heel is tested. This happens
before the baby leaves the hospital, usually at 1 or 2 days of age. Talk to your doctor
about newborn screening if your baby was not born in a hospital.
The blood sample should be taken after the first 24 hours of life. Some babies
are tested within the first 24 hours, though, because sometimes moms and newborns
are discharged within 1 day. If this happens, experts recommend taking a repeat sample
no more than 1 to 2 weeks later. Some states routinely do two tests on all infants.
When Are the Results Ready?
Results of newborn screening for hearing loss and heart disease are available as
soon as the test is done.
Blood test results usually are ready by the time a baby is 5–7 days old. Often,
parents won't hear about results if screening tests were normal. They are contacted
if a test was positive for a condition. A positive newborn screening test does not
mean a child definitely has the medical condition. Doctors order more tests to confirm
or rule out the diagnosis.
If a diagnosis is confirmed, doctors might refer the child to a specialist for
more testing and treatment. When treatment is needed, it's important to start it as
soon as possible. Treatment may include special formula, diet restrictions, supplements,
medicines, and close monitoring.
Visit Baby's First Test for more
information on newborn screening and to find out which conditions your state checks
for.
