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Pediatric Otolaryngology

(181) Ethical Issues in the Prenatal Genetic Diagnosis of Hearing Loss

Monday, October 2, 2023
2:45 PM – 3:45 PM East Coast USA Time

    Presenting Author(s)

  • Tarika Srinivasan, BSA, BA

    Medical Student
    Harvard Medical School / Global OHNS Initiative
    Cambridge, Massachusetts, United States

    • Senior Author(s)

  • MK

    Margaret A. Kenna, MD, MPH

    Professor of Otolaryngology, Harvard Medical School, Director of Clinical Research and the Hearing Loss Program
    Boston Children's Hospital
    Boston, MA, United States

Disclosure(s):
Tarika Srinivasan, BSA, BA: No relevant relationships to disclose.


Introduction: Expanded carrier screening (ECS), a non-invasive prenatal testing method to assess an unborn child’s risk of inheriting pathogenic genetic variants, may enable prognostication of hearing loss (HL) progression, early educational intervention, and minimization of unnecessary testing. We sought to study the feasibility, efficacy, and ethical implications of ECS and prenatal genetic consultation for HL.

Methods: We identified a cohort of parent-infant dyads with positive ECS results for mutations in HL genes, and were seeking prenatal consultation for genetic diagnosis of HL at Boston Children's Hospital. Their medical records were retrospectively reviewed to yield cohesive care narratives including results of ECS, results of genetic diagnostic testing, newborn hearing screening, time to HL diagnosis, and other case specifics.

Results: 12 couples with positive ECS results for HL genes were referred for consultation with a pediatric otolaryngologist and genetic counselor, and were offered diagnostic genetic testing. ECS demonstrated pathogenic variants in GJB2 (11) or USH2A (2). 6 couples pursued prenatal genetic diagnosis via amniocentesis and 6 couples deferred genetic testing to post-partum. Four babies were found to have biallelic GJB2 mutations. Three of these four had HL diagnosed by age 4 weeks; the fourth passed initial auditory brainstem response testing but developed progressive sensorineural HL.

Conclusions: Carrier screening and confirmatory prenatal genetic testing provided significant lead time for follow-up auditory testing, hearing aid fitting, and enrollment in speech development and family education programs. However, socioeconomic and geographic disparities in access to integrated tertiary care may limit the feasibility of prenatal genetic screening for HL. The Deaf community has expressed concern that prenatal genetic screening may pathologize deafness. By assessing the management of such prenatal genetic results, we might develop evidence-based approaches to maximize benefits and minimize harms for prospective families seeking carrier screening for HL.