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Early sign and disorder identification



Newborn screening tests to identify disorders


What is newborn screening?

Newborn screening is a way to identify babies who are at risk for serious disorders that are treatable, but not apparent at birth.

Why is testing important?

This testing identifies disorders that, if not detected and treated, can result in mental retardation, severe illness or even death. A newborn baby may look perfectly healthy but still have a serious disorder. Finding these problems early and treating them promptly prevents many serious complications. Fortunately, treatment is available to prevent or greatly reduce the effects of these disorders.
Newborn screening tests are one important way to provide your baby with the best possible health care. A simple blood test can give you and your baby's health care provider information about your baby's health that you may not otherwise know.

How is testing done?

All tests are done from a few drops of blood taken from your baby's heel. The blood is collected on a special absorbent paper and sent to the Laboratory for testing. The hospital or health care provider that submitted the specimen is notified of the results within a few days.

What disorders are detected?

Babies are tested for the following ten disorders:
  • Biotinidase deficiency
  • Congenital adrenal hyperplasia (CAH)
  • Congenital hypothyroidism
  • Cystic fibrosis (CF)
  • Galactosemia
  • Hemoglobinopathies (including sickle cell disease)
  • Homocystinuria
  • Maple syrup urine disease (MSUD)
  • Medium chain acyl-coA dehydrogenase (MCAD) deficiency
  • Phenylketonuria (PKU)
When should testing be done?

The law requires that the first specimen be collected before hospital discharge, but no later than 5 days of age. This allows affected infants to be treated as soon as possible. The routine second specimen should be collected between 7 and 14 days of age, but it is still beneficial for older babies. Additional testing should also be done when requested by your baby's health care provider.

Why are two specimens recommended?

Most of the disorders will be detected on the first specimen, even if taken on the day of birth. The second specimen is recommended because some disorders may not be detected until the baby is slightly older.
Sometimes more than two specimens may be requested. This does not mean your baby has one of the disorders. The most common reason for requesting an additional specimen is that the previous results were inconclusive.

What happens if a disorder is suspected?

If the newborn screening test indicates a possible problem, your baby's health care provider will be contacted immediately. Further testing will be recommended so treatment can be started rapidly if your baby is affected with one of the disorders.

How can I find out the results?

If you have questions about the results from your baby's screening tests, please contact your health care provider. If your health care provider does not have the results, he or she should contact the Newborn Screening Program to obtain a copy.


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