Technology Description

Hearing loss is the most common neurosensory deficit, affecting approximately 1 in 500 newborns. Genetic causes are identified in roughly 70% of children, with congenital cytomegalovirus (cCMV) infection comprising an additional 15-20% of cases. Currently, to identify a newborn with hearing loss, babies undergo physiologic testing by automated auditory brainstem responses or distortion product otoacoustic emissions. This universal newborn hearing screening program has significantly improved the age at which children with severe-to-profound hearing loss are diagnosed. Nonetheless, physiologic screening alone is not informative regarding the etiology of hearing loss and often misses babies with mild or progressive forms of hearing loss. The addition of genetic and cCMV testing as an adjunct to physiologic screening is necessary to reduce the time to diagnosis, identify babies missed by physiologic screening alone, and improve identification and treatment of hearing loss in children.

Inventors at the University of Iowa have created a comprehensive, cost-effective, and high throughput adjunct to physiologic hearing screening in the newborn. This amplicon-based massively parallel sequencing screening test relies on a custom-made panel to detect the most common genetic causes of deafness. Additionally, this amplicon-based system allows for diagnoses of cCMV. The amplicon list was manually curated to limit the panel to variants associated with nonsyndromic hearing loss, nonsyndromic hearing loss mimics, and selected syndromes associated with deafness. Utilization of this new hearing screen will reduce the time to diagnosis and inform clinical care for children with hearing loss.

UIRF Case No. 2021-015

Stage of Development

The screen has been validated using previously tested samples and on-going work is being done to analyze the screen using healthy and deaf patient samples.

• Provides additional screening to detect mild or progressive hearing loss.
• Identifies an etiology for hearing loss.
• Diagnoses cCMV infection.
• Is reasonably priced.