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Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center
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 scree...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139636/ https://www.ncbi.nlm.nih.gov/pubmed/21811586 http://dx.doi.org/10.1371/journal.pone.0022314 |
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author | Wu, Chen-Chi Hung, Chia-Cheng Lin, Shin-Yu Hsieh, Wu-Shiun Tsao, Po-Nien Lee, Chien-Nan Su, Yi-Ning Hsu, Chuan-Jen |
author_facet | Wu, Chen-Chi Hung, Chia-Cheng Lin, Shin-Yu Hsieh, Wu-Shiun Tsao, Po-Nien Lee, Chien-Nan Su, Yi-Ning Hsu, Chuan-Jen |
author_sort | Wu, Chen-Chi |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3139636 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-31396362011-08-02 Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center Wu, Chen-Chi Hung, Chia-Cheng Lin, Shin-Yu Hsieh, Wu-Shiun Tsao, Po-Nien Lee, Chien-Nan Su, Yi-Ning Hsu, Chuan-Jen PLoS One Research Article 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. Public Library of Science 2011-07-19 /pmc/articles/PMC3139636/ /pubmed/21811586 http://dx.doi.org/10.1371/journal.pone.0022314 Text en Wu et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Wu, Chen-Chi Hung, Chia-Cheng Lin, Shin-Yu Hsieh, Wu-Shiun Tsao, Po-Nien Lee, Chien-Nan Su, Yi-Ning Hsu, Chuan-Jen Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center |
title | Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center |
title_full | Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center |
title_fullStr | Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center |
title_full_unstemmed | Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center |
title_short | Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center |
title_sort | newborn genetic screening for hearing impairment: a preliminary study at a tertiary center |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139636/ https://www.ncbi.nlm.nih.gov/pubmed/21811586 http://dx.doi.org/10.1371/journal.pone.0022314 |
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