Abstract
Universal newborn hearing screening (UNHS) is of paramount importance for early identification and management of hearing impairment in children. However, infants with slight/mild, progressive, or late-onset hearing impairment might be missed in conventional UNHS. To investigate whether genetic screening for common deafness-associated mutations could assist in identifying these infants, 1017 consecutive newborns in a tertiary hospital were subjected to both newborn hearing screening using a two-step distortion-product otoacoustic emissions (DPOAE) screening and newborn genetic screening (NGS) for deafness. The NGS targeted 4 deafness-associated mutations commonly found in the Taiwanese population, including p.V37I (c.109G>A) and c.235delC of the GJB2 gene, c.919-2A>G of the SLC26A4 gene, and mitochondrial m.1555A>G of the 12S rRNA gene. The results of the NGS were then correlated to the results of the NHS. Of the 1017 newborns, 16 (1.6%) had unilateral DPOAE screening failure, and 22 (2.2%) had bilateral DPOAE screening failure. A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, 11 (1.1%) of whom were homozygous for GJB2 p.V37I, 6 (0.6%) compound heterozygous for GJB2 p.V37I and c.235delC, and 1 (0.1%) homoplasmic for m.1555A>G, who may potentially have hearing loss. Among them, 3 babies, 5 babies, and 1 baby, respectively, passed the NHS at birth. Comprehensive audiological assessments in the 9 babies at 3 months identified 1 with slight hearing loss and 2 with mild hearing loss. NGS for common deafness-associated mutations may identify infants with slight/mild or potentially progressive hearing impairment, thus compensating for the inherent limitations of the conventional UNHS.
Highlights
Hearing loss is one of the most common congenital disorders, with approximately 1 in 1000 newborns affected by bilateral moderate, severe or profound (i.e. .40dBHL) permanent congenital hearing loss (PCHL) [1,2]
In this study, we hypothesize that the application of newborn genetic screening for common deafness-associated mutations may compensate for the inherent limitations of universal newborn hearing screening (UNHS)
We developed a high throughput genetic screening tool to screen 4 common deafness-associated mutations in the Taiwanese population, and applied it to a prospective cohort of 1017 newborns
Summary
Hearing loss is one of the most common congenital disorders, with approximately 1 in 1000 newborns affected by bilateral moderate, severe or profound (i.e. .40dBHL) permanent congenital hearing loss (PCHL) [1,2]. Hearing loss is one of the most common congenital disorders, with approximately 1 in 1000 newborns affected by bilateral moderate, severe or profound If the criterion of hearing loss is lowered to 15 dBHL, 0.88% of the school-aged population have slight or mild bilateral sensorineural hearing impairment (SNHI) [3]. Some common GJB2 mutations, such as p.M34T, p.V37I, and p.L90P are associated with mild-tomoderate SNHI [14]. Patients with the most common mitochondrial 12S rRNA mutation, m.1555A.G, demonstrate great variation in the severity of hearing loss progression with age [18]. Some common deafness-associated mutations are associated with mild and/or progressive hearing loss. In this study, we hypothesize that the application of newborn genetic screening for common deafness-associated mutations may compensate for the inherent limitations of UNHS
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