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Abnormal Newborn Screen

If at any time, for either an abnormal or a critical newborn screen, the infant appears unwell, with poor feeding, lethargy, poikilothermia, or other concerning symptoms, it is always appropriate to call our Medical Genetics team for recommendations: (757) 668-9723.

What is an abnormal or critical newborn screen?

Abnormal Newborn Screen for Galactosemia

In Virginia, abnormal newborn screens are repeated until there are a total of three abnormals, at which time the state considers the screens critical, and we are notified directly by the state.  At that time, we will contact the primary physician and recommend confirmatory labs. 

All other abnormal newborn screens are repeated until they are normal or until directed to contact a specialist.

Critical Newborn Screen

If the state or a specialist contacts you concerning a critical newborn screen, the infant needs to be seen by the primary care physician within 24 hours and confirmatory labs (at the recommendation of genetics) must be ordered. We may or may not make recommendations on feeding based on the critical results, but often the infant can be monitored from home and no significant changes to diet are needed.

Types of Screens and Who to Call

Depending on the type of abnormal or critical newborn screen, CHKD recommends calling the following departments:

Abnormal or Critical Newborn Screen Department
CAH or thyroid Endocrinology | (757) 668-7237
SCID Immunology | (757) 668-8255
Cystic Fibrosis Pulmonology | (757) 668-7426
Sickle cell, G6PD deficiency, hemoglobin screen Hematology | (757) 668-7423

All others:

  • Galactosemia
  • Amino acid metabolism disorders
  • Organic acid metabolism
  • Fatty acid oxidation disorders
  • Biotinidase deficiency
  • Carnitine deficiency
Genetics | (757) 668-9723

DisclaimerThis information is not intended to substitute or replace the professional medical advice you receive from your child's physician. The content provided on this page is for informational purposes only, and was not designed to diagnose or treat a health problem or disease. Please consult your child's physician with any questions or concerns you may have regarding a medical condition.

Reviewed on: 5/2024