WCH: Newborn 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:

  • Spinal Muscular Atrophy (SMA)
  • X-Linked Adrenoleukodystrophy (X-ALD)
  • Congenital hypothyroidism (CH)
  • Galactosemia
  • Congenital Adrenal Hyperplasia (CAH)
  • Demoglobinopathy Disease (e.g., sickle cell)
  • Biotinidase Deficiency
  • Cystic Fibrosis
  • Severe Combined Immunodeficiency (SCID)
  • 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

Critical Congenital Heart Defects (CCHD) Screening

In addition to newborn metabolic screening tests, the state of North Carolina recently passed legislation to screen every infant born in North Carolina for Critical Congenital Heart Defects. See the CCHD Screening and Reporting Letter for Providers (PDF, 618 KB). 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. This screening is typically performed at hospitals.

Critical Congenital Heart Defects Resources

General Information for Parents About CCHD

Information about CCHD Screening

Educational Videos about CCHD Screening

Information for Hospitals and Providers

A Model Toolkit for Hospitals to Learn about the Nationally Recommended CCHD Screening Protocol and Process

Severe Combined Immunodeficiency (SCID) Fact Sheets for Parents and Providers

Spinal Muscular Atrophy (SMA) Fact Sheets for Parents and Providers

X-Linked Adrenoleukodystrophy (X-ALD) Fact Sheets for Parents and Providers

Mucopolysaccharidosis I (MPS I) Fact Sheets for Parents and Providers

A Test to Save Your Baby’s Life

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.


For more information about this service contact:

Last Modified: 01-13-2023