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 HL Results: 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.
| Original language | English (US) |
|---|---|
| Journal | International Journal of Audiology |
| DOIs | |
| State | Published - Jan 1 2019 |
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Keywords
- Congenital hearing loss
- genetic screen
- hereditary hearing loss
- newborn hearing screen
- non-congenital pre-lingual hearing loss
- pre-lingual hearing loss
ASJC Scopus subject areas
- Language and Linguistics
- Linguistics and Language
- Speech and Hearing
Cite this
Genetic screening as an adjunct to universal newborn hearing screening : literature review and implications for non-congenital pre-lingual hearing loss. / D’Aguillo, Christine; Bressler, Sara; Yan, Denise; Mittal, Rahul; Fifer, Robert; Blanton, Susan H.; Liu, Xuezhong.
In: International Journal of Audiology, 01.01.2019.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Genetic screening as an adjunct to universal newborn hearing screening
T2 - literature review and implications for non-congenital pre-lingual hearing loss
AU - D’Aguillo, Christine
AU - Bressler, Sara
AU - Yan, Denise
AU - Mittal, Rahul
AU - Fifer, Robert
AU - Blanton, Susan H.
AU - Liu, Xuezhong
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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 HL Results: 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.
AB - 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 HL Results: 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.
KW - Congenital hearing loss
KW - genetic screen
KW - hereditary hearing loss
KW - newborn hearing screen
KW - non-congenital pre-lingual hearing loss
KW - pre-lingual hearing loss
UR - http://www.scopus.com/inward/record.url?scp=85068622190&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85068622190&partnerID=8YFLogxK
U2 - 10.1080/14992027.2019.1632499
DO - 10.1080/14992027.2019.1632499
M3 - Review article
AN - SCOPUS:85068622190
JO - International Journal of Audiology
JF - International Journal of Audiology
SN - 1499-2027
ER -