Trial reportHuman genetics2020
Concurrent hearing and genetic screening in a general newborn population.
Trial report in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 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 physiologic and gene-based genetic newborn hearing screening in a general population.Human genomics · 2026Article
- 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
- Impact of over 6 months of digital hearing aid usage on auditory working memory in acquired severe to profound hearing loss.Journal of family medicine and primary care · 2025Article
- Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta‑analysis.Experimental and therapeutic medicine · 2024Article
- Economic evaluation of newborn deafness gene screening as a public health intervention in China: a modelling study.BMJ public health · 2024Article
- [Genetic counseling for hearing loss today].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.Archives of medical science : AMS · 2024Article
- Article
- [Genetics of pediatric hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Review
- [Analysis of audiological features in infants with unilateral hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- [The critical thoughts on diagnosis and treatment of childhood hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Next-generation sequencing improves precision medicine in hearing loss.Frontiers in genetics · 2023Article
- Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.Journal of personalized medicine · 2022Article
- Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.JAMA network open · 2022Article
- The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.International journal of neonatal screening · 2022Article
- Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns.Frontiers in genetics · 2022Article
- Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.Frontiers in pediatrics · 2022Article
- Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China.JAMA network open · 2021Article
- A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.BMC medical genomics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
Abstract
Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing loss have been reported to have been missed by newborn hearing screens. The aim of this study was to evaluate the efficacy of concurrent hearing and genetic screening in the general population and demonstrate its benefits in practice. Enrolled newborns received concurrent hearing and genetic screens between September 1, 2015 and January 31, 2018. Of the 239,636 eligible infants (median age, 19 months), 548 (0.23%) had prelingual hearing loss. Genetic screening identified 14 hearing loss patients with positive genotypes and 27 patients with inconclusive genotypes who had passed the hearing screens. In addition, the genetic screen identified 0.23% (570/239,636) of the newborns and their family members as at-risk for ototoxicity, which is undetectable by hearing screens. In conclusion, genetic screening complements newborn hearing screening by improving the detection of infants at risk of hereditary hearing loss and ototoxicity, and by informing genotype-based clinical management for affected infants and their family members. Our findings suggest that the practice should be further validated in other populations and rigorous cost-effectiveness analyses are warranted.
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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.