Table 5 Coordination and recommended evaluation based on a combined physiologic and genetic NBHS with a limited genetic screening panel

From: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

  

Genetic newborn hearing screening result

  

Negative (B/LB variants)

Uncertain (VUS; single P/LP variant not predicting a deafness phenotype, i.e., associated with AR deafness)

Positive (P/LP variants predicting deafness phenotype)

Physiologic newborn hearing screening result

Negative (Pass)

- Routine hearing surveillanceb

- Routine hearing surveillance

- Genetic counseling if indicated by other symptoms or concerns

- Diagnostic audiometry

- Long-term follow up

- Genetic counseling

 

Positivea (Fail/did not pass)

- Diagnostic audiometry

- Further diagnostic deafness evaluation

- Diagnostic audiometry

- Further diagnostic deafness evaluation

- Genetic counseling

- Diagnostic audiometry

- Long-term follow up

- Genetic counseling

  1. Screening tests are administered concurrently.
  2. AR autosomal recessive, B/LB benign/likely benign, NBHS newborn hearing screening, P/LP pathogenic/likely pathogenic, VUS variant of uncertain significance.
  3. aBased on available data, we recommend congenital cytomegalovirus (cCMV) testing for all newborns who refer on physiologic NBHS.
  4. bRoutine hearing surveillance based on Joint Committee on Infant Hearing (JCIH) guidelines.
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