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

TLDR

Early intervention for deaf or hard‑of‑hearing newborns improves language, communication, and social‑emotional outcomes, and while universal physiologic screening has reduced diagnosis time, it still misses cases that could be detected through genetic and cytomegalovirus testing. The study proposes a comprehensive newborn hearing screen that adds limited genetic and cytomegalovirus testing to the current physiologic screen to identify missed cases, provide etiologic data, and reduce loss to follow‑up. The authors outline a framework for integrating limited genetic testing and cytomegalovirus screening into existing physiologic screening, highlighting future genome sequencing as a complementary tool.

Abstract

Early intervention for newborns who are deaf or hard-of-hearing leads to improved language, communication, and social-emotional outcomes. Universal physiologic newborn hearing screening has been widely implemented across the United States with the goal of identifying newborns who are deaf or hard-of-hearing, thereby reducing time to diagnosis and intervention. The current physiologic newborn hearing screen is generally successful in accomplishing its goals but improvements could be made. In the past ten years, genetic testing has emerged as the most important etiological diagnostic test for evaluation of children with deafness and congenital cytomegalovirus has been recognized as a major cause of childhood deafness that may be treatable. A comprehensive newborn hearing screen that includes physiologic, genetic, and cytomegalovirus testing would have multiple benefits, including (1) identifying newborns with deafness missed by the current physiologic screen, (2) providing etiologic information, and (3) possibly decreasing the number of children lost to follow up. We present a framework for integrating limited genetic testing and cytomegalovirus screening into the current physiologic newborn hearing screening. We identify needed areas of research and include an overview of genome sequencing, which we believe will become available over the next decade as a complement to universal physiologic newborn hearing screening.