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NC Department of Health and Human Services
Women's and Children's Health Home
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Newborn Metabolic Screening

What is Newborn Metabolic Screening?

Newborn Metabolic Screening Services detect selected metabolic and genetic conditions at birth. All infants born in North Carolina are screened at birth for the following conditions:

  • congenital hypothyroidism (CH),
  • galactosemia,
  • congenital adrenal hyperplasia (CAH),
  • hemoglobinopathy disease (e.g., sickle cell),
  • biotinidase deficiency,
  • cystic fibrosis, and
  • certain metabolic disorders detectable by "Tandem Mass Spectrometry" (TMS), including phenylketonuria (PKU).

If a baby’s results for this screening are abnormal, the baby's doctor will be contacted by the Newborn Screening Program. The baby will be referred for more laboratory testing and, based on the results, may also be referred to a major medical center or Subspecialist office for treatment. Treatment centers include, but are not limited to:

  • Carolinas Medical Center, Charlotte
  • Duke University Medical Center, Durham
  • East Carolina University, Greenville
  • Mission Hospital, Asheville
  • University of North Carolina, Chapel Hill
  • Wake Forest University, Winston-Salem

Who is Eligible?

All infants born in North Carolina are screened at birth. In addition, older children and adults may be eligible for laboratory screening upon special request. This is especially important in monitoring children, adolescents and pregnant women who have been confirmed as having PKU.

How to Apply

No application is necessary. This service is provided to all infants born in North Carolina.

Critical Congenital Heart Defects Screening

In addition to newborn metabolic screening tests, the State of North Carolina recently passed legislation to screen every infant born in NC for Critical Congenital Heart Defects (CCHD). This screening test is a simple and painless way to identify some, but not all, infants born with heart defects who may not show other signs and symptoms. For CCHD information and resources, go to: Critical Congenital Heart Defects (CCHD) Resources (PDF, 73 KB).

Contacts

For more information about this service contact: