ArticlePloS one2011
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.Oncotarget · 2017Pooled it
- The Otoacoustic Emissions in the Universal Neonatal Hearing Screening: An Update on Selected Asian States (2005 to 2025).Children (Basel, Switzerland) · 2025Review
- Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.Clinical and experimental otorhinolaryngology · 2025Article
- Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.BMC medical genomics · 2024Article
- Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene.PloS one · 2022Article
- Reply to letter to the editor.Radiology case reports · 2021Article
- Keypoints to Successful Newborn Hearing Screening. Thirty Years of Experience and Innovations.Healthcare (Basel, Switzerland) · 2021Review
- Increased Risk of Sensorineural Hearing Loss as a Result of Exposure to Air Pollution.International journal of environmental research and public health · 2020Article
- Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan.Human genome variation · 2020Article
- Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.International journal of audiology · 2019Review
- Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.Genes · 2019Article
- Newborn genetic screening for hearing impairment: a population-based longitudinal study.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.Clinical and experimental otorhinolaryngology · 2015Article
- Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.Experimental and therapeutic medicine · 2014Article
- The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.International journal of audiology · 2013Review
- Article
- Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.Genetics and molecular biologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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