ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.
Article in Genetics in medicine : official journal of the American College of Medical 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 49 papers, 1 of them a synthesis 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
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 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
- Concurrent hearing and genetic screening in a general newborn population.Human genetics · 2020Trial
- Disparities in deafness gene mutations between Han and Li ethnic newborns in Hainan, China: insights from a combined screening program.BMC medical genomics · 2026Article
- The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.EBioMedicine · 2026Article
- Identification of a novelExperimental and therapeutic medicine · 2026Article
- Concurrent physiologic and gene-based genetic newborn hearing screening in a general population.Human genomics · 2026Article
- Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.Human genomics · 2025Article
- Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.European journal of human genetics : EJHG · 2025Article
- Worldwide Burden of Hearing Loss Across Childhood and Adolescence, 1990-2021, and Projection to 2050.World journal of otorhinolaryngology - head and neck surgery · 2025Article
- External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions.Practical laboratory medicine · 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
- Economic burden due to hearing loss among individuals in Hebei, China.BMC public health · 2025Article
- [A Study on the hearing level of high-risk children of diabetic mothers].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- The Role of Calcium Signaling in Sensorineural Hearing Loss.International journal of medical sciences · 2025Review
- Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta‑analysis.Experimental and therapeutic medicine · 2024Article
- [Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.Molecular genetics & genomic medicine · 2024Observational
- Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.Scientific reports · 2024Article
- Genetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells.Stem cell research & therapy · 2024Article
Corrections and comments
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Authors and funding
31 authors at 8 institutions in 3 countries.
Funding
Abstract
purposeThe benefits of concurrent newborn hearing and genetic screening have not been statistically proven due to limited sample sizes and outcome data. To fill this gap, we analyzed outcomes of newborns with genetic screening results.
methodsNewborns in China were screened for 20 hearing-loss-related genetic variants from 2012 to 2017. Genetic results were categorized as positive, at-risk, inconclusive, or negative. Hearing screening results, risk factors, and up-to-date hearing status were followed up via phone interviews.
resultsFollowing up 12,778 of 1.2 million genetically screened newborns revealed a higher rate of hearing loss by three months of age among referrals from the initial hearing screening (60% vs. 5.0%, P < 0.001) and a lower rate of lost-to-follow-up/documentation (5% vs. 22%, P < 0.001) in the positive group than in the inconclusive group. Importantly, genetic screening detected 13% more hearing-impaired infants than hearing screening alone and identified 2,638 (0.23% of total) newborns predisposed to preventable ototoxicity undetectable by hearing screening.
conclusionIncorporating genetic screening improves the effectiveness of newborn hearing screening programs by elucidating etiologies, discerning high-risk subgroups for vigilant management, identifying additional children who may benefit from early intervention, and informing at-risk newborns and their maternal relatives of increased susceptibility to ototoxicity.
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