Hearing Loss Detected at Newborn Screening May Well Warrant Genetic Testing

When a hearing problem is identified during infant screening, most families will benefit from genetic evaluation.

Of the approximately 1 in 500 newborns with hearing loss, about half the cases are thought to have a genetic basis. The large number of genes and specific syndromes associated with congenital hearing loss often require special testing to make a specific diagnosis. Most congenital hearing loss is nonsyndromic (isolated, without other anomalies), but about 30% are syndromic (associated with additional congenital anomalies).

Investigators at a specialized genetics of hearing loss clinic screened 500 children who were referred for testing for genetic forms of hearing loss (76% bilateral, 24% unilateral). GJB2 (which encodes the connexin protein) mutational analysis, clinical examination, family history, and laboratory testing (including renal an…

Reviewing Author

Judith G. Hall, OC, MD