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Newborn Screening Ontario
Hearing Loss Risk Factor Screening

Screen Negative Results

What do negative risk factor screening results for PHL mean?

Negative screening results mean that:

  • cCMV was not detected
  • The common mutations tested in the GJB2, GJB6, and SLC26A4 genes were not detected

What are the limitations of the risk factor screen for PHL?

  • The risk factor screen cannot rule out cCMV infection as the sensitivity of the test is approximately 80%
    • An infant could have a cCMV infection that is not detected through the risk factor screen (i.e. false negative)
    • If an infant has concerns suggestive of possible cCMV infection, diagnostic testing should be considered
  • The risk factor screen looks for some, but not all, mutations in the GJB2, GJB6 and SLC26A4 genes
    • An infant may have other mutations in these genes that are not detected through the risk factor screen
    • If an infant is at high risk of early-onset PHL based on family history, a referral to your local Genetics clinic should be considered
    • A list of mutations included on the risk factor screen can be found here 

How should negative risk factor screening results be interpreted?

Screen negative results should be interpreted along with the results of a child’s IHP hearing screen and/or audiology assessment, if done. Please contact your local IHP Lead Agency to request results of a child’s hearing screen or audiology assessment.  Contact information for IHP Lead Agencies can be found at www.ontario.ca/infanthearing.

  • A child who passes IHP hearing screening, has no additional risk factors identified by the IHP, and has a negative result on their risk factor screen does not require any further follow-up.  If any concerns arise in the future regarding a child’s hearing, parents/guardians should follow-up with their child’s health care provider.
  • A child who passes IHP hearing screening, has certain risk factors for late-onset hearing loss identified at the time of hearing screening, and has a negative result on their risk factor screen will be offered follow-up and/or audiological surveillance as per IHP protocols.
  • A child with confirmed PHL will be offered services and support through the IHP. The risk factor screen did not identify a cause for the child’s hearing loss.   
    • Referrals to Otolaryngology and Genetics, and additional investigations to identify the potential etiology of a child’s hearing loss should be considered.
    • NSO can provide additional interpretation, and potentially further testing, for children who have PHL and negative risk factor screening results.  Please contact NSO for more details.