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Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center
Chen-Chi Wu1, Chia-Cheng Hung, Shin-Yu Lin
1Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
Insights
Newborn genetic screening (NGS) can identify infants at risk for hearing loss missed by standard hearing screening. This approach aids in early detection of slight, mild, or progressive hearing impairments in newborns.
Area of Science:
- Genetics
- Audiology
- Neonatal Care
Background:
- Universal newborn hearing screening (UNHS) is crucial for early identification of hearing loss.
- Conventional UNHS may miss infants with slight, mild, progressive, or late-onset hearing impairments.
- Genetic factors play a significant role in congenital deafness.
Purpose of the Study:
- To evaluate the utility of newborn genetic screening (NGS) for common deafness-associated mutations.
- To determine if NGS can identify infants missed by conventional UNHS.
- To correlate genetic screening results with hearing screening outcomes.
Main Methods:
- Conducted simultaneous newborn hearing screening (DPOAE) and NGS on 1017 newborns.
- NGS targeted four common deafness-associated mutations in the Taiwanese population (GJB2, SLC26A4, mitochondrial 12S rRNA).
- Correlated audiological and genetic screening results.
Main Results:
- 19.6% of newborns carried at least one deafness-associated mutation.
- Specific mutations identified included GJB2 p.V37I, GJB2 c.235delC, SLC26A4 c.919-2A>G, and mitochondrial m.1555A>G.
- Among infants with mutations who passed initial hearing screening, audiological assessments at 3 months revealed 3 cases of slight to mild hearing loss.
Conclusions:
- Newborn genetic screening can identify infants with potential hearing loss missed by conventional UNHS.
- NGS offers a complementary approach to detect genetic predispositions for slight/mild or progressive hearing impairment.
- Integrating NGS into newborn care can enhance early identification and management of hearing loss.
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.
