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Review
. 2019 Dec;58(12):834-850.
doi: 10.1080/14992027.2019.1632499. Epub 2019 Jul 2.

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss

Christine D'Aguillo  1 , Sara Bressler  1 , Denise Yan  1 , Rahul Mittal  1 , Robert Fifer  2 , Susan H Blanton  1   3   4 , Xuezhong Liu  1   2   3   4   5
Affiliations
Review

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss

Christine D'Aguillo et al. Int J Audiol. 2019 Dec.

Abstract

Objective: Universal newborn hearing screening (UNHS) uses otoacoustic emissions testing (OAE) and auditory brainstem response testing (ABR) to screen all newborn infants for hearing loss (HL), but may not identify infants with mild HL at birth or delayed onset HL. The purpose of this review is to examine the role of genetic screening to diagnose children with pre-lingual HL that is not detected at birth by determining the rate of children who pass UNHS but have a positive genetic screening. This includes a summary of the current UNHS and its limitations and a review of genetic mutations and screening technologies used to detect patients with an increased risk of undiagnosed pre-lingual HL.Design: Literature review of studies that compare UNHS with concurrent genetic screening.Study sample: Infants and children with HLResults: Sixteen studies were included encompassing 137,895 infants. Pathogenic mutations were detected in 8.66% of patients. In total, 545 patients passed the UNHS but had a positive genetic screening. The average percentage of patients who passed UNHS but had a positive genetic screening was 1.4%.Conclusions: This review demonstrates the positive impact of concurrent genetic screening with UNHS to identify patients with pre-lingual HL.

Keywords: Congenital hearing loss; genetic screen; hereditary hearing loss; newborn hearing screen; non-congenital pre-lingual hearing loss; pre-lingual hearing loss.

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Figures

Figure 1:
Figure 1:. Study Selection.
The flowchart represents how studies were selected for inclusion and review in this paper.
Figure 2:
Figure 2:. Type of Genetic Screening Technology Used
The number of each major genetic screening technology used by the studies included in this review is represented here. The major technologies include direct sanger sequencing, next generation sequencing, microarray sequencing and PCR-based screening.
Figure 3:
Figure 3:. Suggested Newborn Hearing Screening Flowchart.
The authors propose adding genetic screening to the UNHS, as depicted by this flowchart. Infants with risk factors for hearing loss include those with a NICU stay after birth, prolonged inpatient use of antibiotics after birth, and mechanical ventilation, or as determined by the UNHS legislation enacted in their respective state.
See this image and copyright information in PMC

References

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