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

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.

Future directions for screening and treatment in congenital hearing loss

“…A proposal for comprehensive hearing screening involving physiologic, genetic, and cCMV testing was described in 2019, 65 and a flowchart incorporating all three methods of NBHS for otherwise healthy-appearing newborns is shown in Fig. 1 .…”

Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening

“…7 Directed gene testing at the gene and/or mutation level, however, is challenging secondary to the heterogeneity of SNHL and the variability in pathogenic variant frequencies according to ethnicity. 17 None of the recommendations addresses the role of genetic testing in a neonate who has tested positive for cCMV. A positive cCMV test may dissuade further etiologic investigation.…”

“…Some clinicians prefer initial GJB2 testing prior to comprehensive genetic testing (CGT) . Directed gene testing at the gene and/or mutation level, however, is challenging secondary to the heterogeneity of SNHL and the variability in pathogenic variant frequencies according to ethnicity …”

Electrophysiology and genetic testing in the precision medicine of congenital deafness: A review

“…Approximately 70% of SNHL in congenital deafness has a genetic etiology, a number that may continue to rise as additional genetic etiologies are discovered ( Shearer et al., 2019 ). Recently, next generation sequencing was recommended as a first-line test for the workup of bilateral SNHL in children ( Shearer et al., 2019 ; Shearer and Smith, 2015 ).…”

“…Approximately 70% of SNHL in congenital deafness has a genetic etiology, a number that may continue to rise as additional genetic etiologies are discovered ( Shearer et al., 2019 ). Recently, next generation sequencing was recommended as a first-line test for the workup of bilateral SNHL in children ( Shearer et al., 2019 ; Shearer and Smith, 2015 ). Genetic testing affords a higher diagnostic yield than other assessments for SNHL such as computed tomography, magnetic resonance imaging, ophthalmology referral, renal ultrasound or electrocardiogram ( Lin et al., 2011 ).…”