Abnormal Newborn Screen

(757) 668-9723

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Whom to Call

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

Abnormal or Critical Newborn Screen 

Department 

Phone number

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

What do I do with an 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.

What do I do with a 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.

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 GENETICS FOR RECOMMENDATIONS.

(757) 668-9723