Newborn Screening Services
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) Fact Sheets for Parents and Providers
X-Linked Adrenoleukodystrophy (X-ALD) Fact Sheets for Parents and Providers
- X-ALD Fact Sheet for Parents
- X-ALD Fact Sheet for Providers
- X-ALD Fact Sheet for Parents - Arabic صحيفة وقائع للآباء
- X-ALD Fact Sheet for Parents - Chinese 父母情况说明书
- X-ALD Fact Sheet for Parents - Hmong Daim ntawv qhia tseeb rau niam txiv
- X-ALD Fact Sheet for Parents - Spanish Hoja informativa para padres
Cystic Fibrosis (CF) Fact Sheets for Parents and Providers
- Elevated IRT and 1 CFTR Variant Fact Sheet for Parents
- Elevated IRT and 2 CFTR Variants Fact Sheet for Parents
- Elevated IRT and 1 CFTR Variant Fact Sheet for Parents - Arabic صحيفة وقائع للآباء
- Elevated IRT and 1 CFTR Variant Fact Sheet for Parents - Chinese 父母情况说明书
- Elevated IRT and 1 CFTR Variant Fact Sheet for Parents - Spanish Hoja informativa para
- Elevated IRT and 1 CFTR Variant Fact Sheet for Parents - Hmong Daim ntawv qhia tseeb rau
- Elevated IRT and 2 CFTR Variants Fact Sheet for Parents - Arabic صحيفة وقائع للآباء
- Elevated IRT and 2 CFTR Variants Fact Sheet for Parents - Chinese 父母情况说明书
- Elevated IRT and 2 CFTR Variants Fact Sheet for Parents - Spanish Hoja informativa para padres
- Elevated IRT and 2 CFTR Variants Fact Sheet for Parents - Hmong Daim ntawv qhia tseeb
- Cystic Fibrosis (CF) Sweat Test Fact Sheet for Parents
- Cystic Fibrosis (CF) Provider Guide
- Cystic Fibrosis (CF) Sweat Test Fact Sheet for Parents - Arabic صحيفة وقائع للآباء
- Cystic Fibrosis (CF) Sweat Test Fact Sheet for Parents - Chinese 父母情况说明书
- Cystic Fibrosis (CF) Sweat Test Fact Sheet for Parents - Spanish Hoja informativa para padres
- Cystic Fibrosis (CF) Sweat Test Fact Sheet for Parents - Hmong Daim ntawv qhia tseeb rau
- Cystic Fibrosis Important Findings for Professionals
- Cystic Fibrosis Important Findings for Providers
Severe Combined Immunodeficiency (SCID) Fact Sheets for Parents and Providers
- SCID Fact Sheet for Parents
- SCID Fact Sheet for Primary Care Providers
- SCID Fact Sheet for Parents - Spanish Hoja informativa para padres
- SCID Fact Sheet for Parents - Arabic صحيفة وقائع للآباء
- SCID Fact Sheet for Parents- Hmong Daim ntawv qhia tseeb rau niam txiv
- SCID Fact Sheet for Parents- Chinese 父母情况说明书
Mucopolysaccharidosis I (MPS I) Fact Sheets for Parents and Providers
- MPS I Fact Sheet for Parents
- MPS I Fact Sheet for Providers
- MPS I Fact Sheet for Parents - Hmong Daim ntawv qhia tseeb rau niam txiv
- MPS I Fact Sheet for Parents - Chinese 父母情况说明书
- MPS I Fact Sheet for Parents - Arabic صحيفة وقائع للآباء
- MPS I Fact Sheet for Parents - Spanish Hoja informativa para padres
Pompe Fact Sheets for Parents and Providers
- Pompe Disease Fact Sheet for Parents (infantile-onset Pompe disease)
- Pompe Disease Fact Sheet for Parents (late-onset Pompe disease)
- Pompe Disease Fact Sheet for Providers
- Pompe Disease Fact Sheet for Parents (infantile-onset Pompe disease) – Arabic صحيفة وقائع للآباء
- Pompe Disease Fact Sheet for Parents (infantile-onset Pompe disease) - Chinese 父母情况说明书
- Pompe Disease Fact Sheet for Parents (infantile-onset Pompe disease) - Spanish Hoja informativa para padres
- Pompe Disease Fact Sheet for Parents (infantile-onset Pompe disease) – Hmong Daim ntawv qhia tseeb rau niam txiv
- Pompe Disease Fact Sheet for Parents (late-onset Pompe disease) - Arabic صحيفة وقائع للآباء
- Pompe Disease Fact Sheet for Parents (late-onset Pompe disease) – Chinese 父母情况说明书
- Pompe Disease Fact Sheet for Parents (late-onset Pompe disease) – Spanish Hoja informativa para padres
- Pompe Disease Fact Sheet for Parents (late-onset Pompe disease) – Hmong Daim ntawv qhia tseeb rau niam txiv
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. 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 for Families
- Información para las Familias
- Centers for Disease Control and Prevention: Facts about CCHD
- Common Tests for Congenital Heart Defects (American Heart Association)
- March of Dimes: Congenital Heart Defects and CCHD Information
- Wisconsin Shine Program: Information for Families in English and Spanish
Information about CCHD Screening
- Did Not Pass Result: Your baby did not pass the pulse oximetry screen
- Resultado No Pasó: Su bebé no pasó la prueba de oximetría de pulso
- Pass Result: Your baby passed the pulse oximetry screen!
- Su bebé pasó la prueba de oximetría de pulso
- American Heart Association: Pulse Oximetry Screening for CCHD
- Children’s National Medical Center: Pulse Ox Congenital Heart Disease Screening
Information for Hospitals and Providers
- CCHD Continuing Education Webinars
- CCHD Permanent Rules
- CCHD Screening and Reporting Outreach Letter for Providers
- CCHD Screening Recommendations from the American Academy of Pediatrics
- Perinatal Quality Collaborative of NC (PQCNC): Online CCHD database for all reporting
A Model Toolkit for Hospitals to Learn about the Nationally Recommended CCHD Screening Protocol and Process
- Congenital hypothyroidism (CH)
- Galactosemia
- Congenital Adrenal Hyperplasia (CAH)
- Hemoglobinopathy Disease (e.g., sickle cell)
- Biotinidase Deficiency
- 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:
- Atrium Health Carolinas Medical Center, Charlotte
- Duke University Medical Center, Durham
- East Carolina University, Greenville
- Mission Hospital, Asheville
- University of North Carolina, Chapel Hill
- Atrium Health Wake Forest Baptist Medical, Winston-Salem
Contacts
For more information about this service contact:
- Whole Child Health Section, 919-707-5600