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Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

Wu CC, Hung CC, Lin SY, Hsieh WS, Tsao PN, Lee CN, Su YN, Hsu CJ - PLoS ONE (2011)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.

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.

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Clinical utility of newborn genetic screening (NGS) for deafness.NGS for common deafness-associated mutations, by detecting subjects with mutations associated with mild-to-moderate, progressive, or late-onset hearing impairment, may compensate for the inherent limitations of conventional universal newborn hearing screening (UNHS), including failure to identify infants with slight or mild hearing loss, as well as failure to identify infants who potentially have late-onset or progressive hearing loss during their childhood or adolescence. For infants born outside of hospitals and who do not have an access to UNHS at birth, NGS may also serve as an alternative. SNHI, sensorineural hearing impairment.
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pone-0022314-g003: Clinical utility of newborn genetic screening (NGS) for deafness.NGS for common deafness-associated mutations, by detecting subjects with mutations associated with mild-to-moderate, progressive, or late-onset hearing impairment, may compensate for the inherent limitations of conventional universal newborn hearing screening (UNHS), including failure to identify infants with slight or mild hearing loss, as well as failure to identify infants who potentially have late-onset or progressive hearing loss during their childhood or adolescence. For infants born outside of hospitals and who do not have an access to UNHS at birth, NGS may also serve as an alternative. SNHI, sensorineural hearing impairment.

Mentions: In conclusion, the present study revealed that NGS for common deafness-associated mutations, by detecting subjects with mutations associated with mild-to-moderate, progressive, or late-onset hearing impairment, might compensate for the inherent limitations of conventional UNHS (Fig. 3). For infants born outside of hospitals and who do not have access to UNHS at birth, NGS might also serve as an alternative. The benefits of NGS for deafness would be maximized with the construction of a well-designed infrastructure to support testing, counseling, education, treatment, and follow-up. Despite its clinical utility, the authors would like to emphasize that the role of NGS for deafness is to augment the armamentarium of UNHS instead of replacing UNHS, given that a genetic cause could not be identified in many hearing-impaired children. To our knowledge, this pilot report might be among the first to demonstrate the clinical utility of NGS for deafness. A nation-wide screening is currently underway to confirm the long-term benefits of NGS for the detection of deafness.


Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

Wu CC, Hung CC, Lin SY, Hsieh WS, Tsao PN, Lee CN, Su YN, Hsu CJ - PLoS ONE (2011)

Clinical utility of newborn genetic screening (NGS) for deafness.NGS for common deafness-associated mutations, by detecting subjects with mutations associated with mild-to-moderate, progressive, or late-onset hearing impairment, may compensate for the inherent limitations of conventional universal newborn hearing screening (UNHS), including failure to identify infants with slight or mild hearing loss, as well as failure to identify infants who potentially have late-onset or progressive hearing loss during their childhood or adolescence. For infants born outside of hospitals and who do not have an access to UNHS at birth, NGS may also serve as an alternative. SNHI, sensorineural hearing impairment.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3139636&req=5

pone-0022314-g003: Clinical utility of newborn genetic screening (NGS) for deafness.NGS for common deafness-associated mutations, by detecting subjects with mutations associated with mild-to-moderate, progressive, or late-onset hearing impairment, may compensate for the inherent limitations of conventional universal newborn hearing screening (UNHS), including failure to identify infants with slight or mild hearing loss, as well as failure to identify infants who potentially have late-onset or progressive hearing loss during their childhood or adolescence. For infants born outside of hospitals and who do not have an access to UNHS at birth, NGS may also serve as an alternative. SNHI, sensorineural hearing impairment.
Mentions: In conclusion, the present study revealed that NGS for common deafness-associated mutations, by detecting subjects with mutations associated with mild-to-moderate, progressive, or late-onset hearing impairment, might compensate for the inherent limitations of conventional UNHS (Fig. 3). For infants born outside of hospitals and who do not have access to UNHS at birth, NGS might also serve as an alternative. The benefits of NGS for deafness would be maximized with the construction of a well-designed infrastructure to support testing, counseling, education, treatment, and follow-up. Despite its clinical utility, the authors would like to emphasize that the role of NGS for deafness is to augment the armamentarium of UNHS instead of replacing UNHS, given that a genetic cause could not be identified in many hearing-impaired children. To our knowledge, this pilot report might be among the first to demonstrate the clinical utility of NGS for deafness. A nation-wide screening is currently underway to confirm the long-term benefits of NGS for the detection of deafness.

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.

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.

Show MeSH
Related in: MedlinePlus