What is the Wisconsin Newborn Screen?
A critical public health program that identifies potentially life-threatening conditions in newborns through early screening and intervention. The program's success relies on seamless coordination between the Wisconsin State Lab of Hygiene, primary care providers, and specialist consultants. Positive metabolic newborn screens are handled by metabolic specialists at Children's Wisconsin and Waisman Center/University of Wisconsin. Other disease categories reported on newborn screening follow different protocols and are managed by different specialists.
Metabolic Newborn Screen Result Protocol
For Positive Metabolic Results
You should receive two communications:
- Initial contact from the Wisconsin State Lab of Hygiene Newborn Screen Program who will convey the positive NBS results
- Same-day contact from a metabolic specialist who will make recommendations for patient care and confirmatory testing
For Borderline Results
- Not considered a positive result
- You will not be contacted by the state lab; "Borderline" is indicated on the newborn screen report you will receive
- You will not be contacted by a metabolic specialist and no confirmatory testing is needed
- Typically requires only a repeat newborn screen within a specified timeframe, indicated on the newborn screen report
Need Assistance?
Using the Physician Consultation Line: (414) 266-2460, contact the Children's Wisconsin on-call geneticist if
- You're unsure about interpreting newborn screen results
- You haven't received expected communications
- You have any other concerns
Provider Resources
Patient/Family Resources
To support your patient conversations, we provide family-friendly handouts to share with parents about their child’s positive metabolic newborn screen result.
- Phenylketonuria or Phenylalanine hydroxylase deficiency (PKU)
- Carnitine Uptake Deficiency (CUD)
- Galactosemia
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- 3-Methylcrotonyl CoA carboxylase (3-MCC) deficiency
- Pompe Disease (PD)
- Problems with Vitamin B12, Methylmalonic Acidemia or Propionic Acidemia
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
- X-linked adrenoleukodystrophy (X-ALD)