ArticleAmerican journal of human genetics2019
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06183138 (Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases), which is not on this map. Cited by 71 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases
Who cites it
71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- Early hearing detection and intervention (EHDI) programmes for infants and young children in low-income and middle-income countries in Asia: a systematic review.BMJ paediatrics open · 2023Pooled it
- A systematic review of newborn and childhood hearing screening around the world: comparison and quality assessment of guidelines.BMC pediatrics · 2022Pooled it
- Concurrent hearing and genetic screening in a general newborn population.Human genetics · 2020Trial
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.European journal of human genetics : EJHG · 2026Review
- Article
- The Otoacoustic Emissions in the Universal Neonatal Hearing Screening in China and India: An Update on the Asian States (2005 to 2025).Children (Basel, Switzerland) · 2026Review
- Recent Progress in Mechanism-Based Therapies forInternational journal of molecular sciences · 2026Review
- The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.EBioMedicine · 2026Article
- Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.Human genomics · 2026Article
- Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.Frontiers in genetics · 2026Article
- Nonlinear associations of birth weight and gestational age with initial newborn hearing screening referral in a large Chinese neonatal cohort.Frontiers in public health · 2026Article
- Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.Human genomics · 2025Article
- [Prediction of hearing change in children with enlarged vestibular aqueduct with different genotypes by linear mixed-effects model].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.Scientific reports · 2025Article
- Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.Clinical and experimental otorhinolaryngology · 2025Article
- Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.European journal of human genetics : EJHG · 2025Article
- [The study of detection and etiology of delayed sensorineural hearing loss in children].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Research hotspots and trends of theIntractable & rare diseases research · 2025Article
- Development and Beta Validation of an mHealth-Based Hearing Screener (SRESHT) for Young Children in Resource-Limited Countries: Pilot Validation Study.JMIR formative research · 2025Article
- A treatment-focused approach to medical investigations for hearing loss in infants.Journal of the Royal Society of New Zealand · 2025Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
46 authors at 11 institutions in 4 countries.
Funding
Abstract
Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.