Genetics & metabolism

Newborn Screening

Manitoba’s newborn screening program screens for over 40 metabolic and endocrine disorders. Individually, these disorders are rare, but as a group, will be detected in 10-12 newborns each year, or approximately 0.07% of children born in Manitoba.  

Babies affected with these conditions appear normal at birth and, unless they are screened, might not be diagnosed until irreversible damage has occurred. Most of these conditions are associated with recurrent illnesses, developmental disabilities and potentially infant death, if not treated. Early diagnosis and treatment can significantly improve outcomes. For some, preventative care can improve or maintain the quality of life of these babies. For babies who start to become ill soon after birth, newborn screening may save valuable time and resources by providing early and definite diagnosis.

Possible Screening Results

Screen Negative: The infant under your care “screens negative” for all conditions included on the Manitoba newborn screen panel.

Repeat Sample: If the initial sample is unacceptable, or if the results reveal mild abnormalities of certain analytes (not critical), you may be contacted by the Cadham Provincial laboratory to obtain another sample. The metabolic team will only become involved if results are presently abnormal or clinical symptoms are present.

Screen Positive:  The results suggest critically abnormal analytes or a pattern suggestive of an inborn error of metabolism.  A positive screen does not necessarily mean that the baby has a disorder, but that further investigations are required. The Metabolic team is involved in the follow-up of all critically abnormal results.

Fact Sheets for Screen Positive Results For Parents and Providers

Click here for information about specific screen positive results.

Other Resources

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