In a 9-month-old with sensorineural hearing loss, which diagnostic test offers the highest cost-benefit ratio to determine etiology?

In a 9-month-old with sensorineural hearing loss, which diagnostic test offers the highest cost-benefit ratio to determine etiology?

• A. TORCH serology
• B. MRI
• C. genetic evaluation
• D. electrocardiogram

Answer: (C)

When evaluating an infant with sensorineural hearing loss, many cases come from genetic causes. A genetic evaluation can identify a specific etiology in a substantial number of children, often with a relatively low incremental cost compared with extensive imaging. Knowing the exact genetic mutation informs prognosis, helps anticipate progression, guides management decisions (such as surveillance for associated features and timing of cochlear implantation), and provides accurate information about recurrence risk for the family. A genetic panel can test multiple genes at once, delivering actionable results early. If a genetic result isn’t found, imaging and other tests can then be pursued as needed, but the initial screening with genetic testing offers the best balance of information and cost. TORCH testing is typically less impactful unless there are specific infection clues, and MRI, while important for anatomy and implant planning, is more expensive and may yield less etiologic information initially in the absence of syndromic features.

When evaluating an infant with sensorineural hearing loss, many cases come from genetic causes. A genetic evaluation can identify a specific etiology in a substantial number of children, often with a relatively low incremental cost compared with extensive imaging. Knowing the exact genetic mutation informs prognosis, helps anticipate progression, guides management decisions (such as surveillance for associated features and timing of cochlear implantation), and provides accurate information about recurrence risk for the family. A genetic panel can test multiple genes at once, delivering actionable results early. If a genetic result isn’t found, imaging and other tests can then be pursued as needed, but the initial screening with genetic testing offers the best balance of information and cost. TORCH testing is typically less impactful unless there are specific infection clues, and MRI, while important for anatomy and implant planning, is more expensive and may yield less etiologic information initially in the absence of syndromic features.