scholarly journals Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

2018 ◽  
Author(s):  
Qiuju Wang ◽  
Jiale Xiang ◽  
Jun Sun ◽  
Yun Yang ◽  
Jing Guan ◽  
...  

Purpose: Concurrent newborn hearing and genetic screening has been reported, but its benefits have not been statistically proven due to limited sample sizes and outcome data. To fill this gap, we analyzed outcomes of a large number of newborns with genetic screening results. Methods: Newborns in China were screened for 20 hearing-loss-related genetic variants from 2012-2017. 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. Results: We completed genetic screening on one million newborns and followed up 12,778. We found that a positive genetic result significantly indicated a higher positive predictive value of the initial hearing screening (60% vs. 5.0%, P<0.001) and a lower rate of loss-to-follow-up (5% vs. 22%, P<0.001) than an inconclusive one. Importantly, 42% of subjects in the positive group with reported or presymptomatic hearing loss were missed by conventional hearing screening. Furthermore, genetic screening identified 0.23% of subjects predisposed to preventable ototoxicity. Conclusion: Our results demonstrate that limited genetic screening identified additional cases, reduced loss-to-follow-up, and informed families of ototoxicity risks, providing convincing evidence to support integrating genetic screening into universal newborn hearing screening programs.

2014 ◽  
Vol 23 (3) ◽  
pp. 282-292 ◽  
Author(s):  
Lata A. Krishnan ◽  
Shannon Van Hyfte

Purpose The purpose of this study was to evaluate the effects of policy changes on loss to follow-up rates and the ability to achieve the goals of the American Academy of Pediatrics Joint Committee on Infant Hearing Screening (2007) for diagnosis of hearing loss by 3 months, amplification within 1 month of diagnosis, and start of intervention by 6 months. Method From the files of 111 infants, data were extracted on the following: date of birth, birth hospital, hometown, parents' ages, ethnicity, nursery status, medical history, age at initial evaluation and diagnosis, results of evaluation(s), and age at hearing aid fitting and start of early intervention. Data were compared with previously published data from the clinic (Krishnan, 2009). Results Policy changes led to a decrease in loss to follow-up and a younger age at diagnosis of hearing loss. Infants identified with hearing loss were fit with amplification at younger ages but not within 1 month of diagnosis of hearing loss. Policy changes had positive outcomes on loss to follow-up and age of diagnosis and amplification. Conclusions Challenges remain in meeting the goals of amplification within 1 month of diagnosis and documenting the start of early intervention. Improved communication between and education of all parties involved in the care of infants is needed.


2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
A Doncarli ◽  
H Tillaut ◽  
V Goulet

Abstract Background The French newborn hearing screening programme set up in 2014 aims to identify affected children as early as possible to allow appropriate care. Our goal was to evaluate the implementation of this programme at the national level. Methods The programme consist in a screening using a test (T1) and a retest (T2) in the maternity hospital in all newborns. In some region, a delayed test (T3) is performed afterwards in children for whom it was not possible to confirm normal hearing. Children suspected of deafness subsequently enter the diagnosis phase. We defined evaluation indicators after stakeholders consultation. We developed a web application to collect aggregated data on live births. We estimated the rate of coverage, refusal, children suspected of hearing loss at the end of the screening phase and the prevalence of bilateral deafness. Results In 2015, one year after the initiation of the programme, the coverage rate was already very high (88%) and even more so in 2016 (96%). Parental acceptance was very good (refusal: 0.1%). By the end of 2016, 19 out 27 regions had added a T3. The rate of suspicion of bilateral hearing loss was decreased by using a T3 (1.4% vs 0.9%). Bilateral deafness rate, estimated after a 2-years follow up, was 1.3‰ although it was estimated only on 51.5% of suspected children for whom diagnosis data had been transmitted. Conclusions The objective of a 90% coverage set by the French ministry of health has been met after 2 years of operation of the program. T3 appears useful in relieving diagnostic structures from false positives. Our estimated prevalence of bilateral deafness could be more accurate if data collection was improved but is consistent with prevalence reported in North America. Key messages The universal newborn hearing screening program has been successfully set up in France in terms of coverage. Future work should focus on improving the collection of follow up data to better characterise diagnosed children.


2021 ◽  
Vol 104 (1) ◽  
pp. 95-99

Objective: 1) To share the experience in establishing the first province to set up the universal newborn hearing screening (UNHS) in Thailand. 2) To report the results of four consecutive years of UNHS in Trang. Materials and Methods: All newborns in Trang province, between October 2013 and September 2017, who received UNHS, were included in this study. The present study was a descriptive study. Results: There were three main obstacles to be solved to establish the program. There was no supported budget from the central government to run the UNHS. There was a lack of audiologists or trained personnel to run the UNHS. Finally, there was no province in Thailand that has done the project before. A budget for the Trang’s UNHS project was allocated, which was 3,100,000 baht from the Trang provincial administrative organization, to purchase hearing screening machines for every community hospital. The personnel to run the UNHS, which were nurses, were trained in every hospital. The protocols, referral, and follow-up programs were newly designed to establish the hospital network for the program. There were 28,254 newborns in Trang and 27,983 (99.04%) were screened. The high-risk newborns were 1,415 (5.1%). The low-risk group was 26,568 (94.9%). The referral rate of transient evoked otoacoustic emission (TEOAE) was 5.9%. In the low-risk past screening group, there was one newborn (0.005%) that presented later with delayed speech and profound hearing loss after 1½ years and the MRI showed bilateral IAC stenosis. There were two newborns with severe hearing loss, one was Mondini dysplasia, and the other was normal on imaging, in 169 unpassed low-risk newborns. In the high-risk group, 73 (5.2%) were unpassed. After diagnostic tests, 71 (97.2%) were normal, one had severe hearing loss with normal imaging, and the other had bilateral microtia. The incidence of bilateral severe SNHL in high-risk newborn was (1/1,415) 0.71:1,000 births. The incidence of bilateral severe SNHL in low-risk newborn was (3/26,568) 0.11:1,000 births. After two years of follow-up, there was no delayed speech due to hearing loss in all the present study newborns. Conclusion: The rate of congenital hearing loss is not as high as in the literature, but the UNHS is still important to the newborns and their parents. Keywords: UNHS in Trang, Province-based UNHS, Incidence of hearing loss in newborn


2001 ◽  
Vol 124 (4) ◽  
pp. 359-367 ◽  
Author(s):  
Eric J. Kezirian ◽  
Karl R. White ◽  
Bevan Yueh ◽  
Sean D. Sullivan

OBJECTIVE: To estimate the cost and cost-effectiveness of universal newborn hearing screening. STUDY DESIGN AND SETTING: Decision analysis model utilizing the hospital perspective. This model evaluated 4 distinct protocols for screening a fixed and defined hypothetical cohort of newborn infants. OUTCOME MEASURES: Cost of screening and the number of infants with hearing loss identified through universal screening. RESULTS: Otoacoustic emissions testing at birth followed by repeat testing at follow up demonstrated the lowest cost ($13 per infant) and had the lowest cost-effectiveness ratio ($5100 per infant with hearing loss identified). Screening auditory brainstem evoked response testing at birth with no screening test at follow-up was the only protocol with greater effectiveness, but it also demonstrated the highest cost ($25 per infant) and highest cost-effectiveness ratio ($9500 per infant with hearing loss identified). These findings were robust to sensitivity analysis, including best-case and worst-case estimation. The prevalence of hearing loss and the fraction of infants returned for follow-up testing had a large impact on the absolute level, but not relative level of protocol cost and cost-effectiveness. CONCLUSION: The otoacoustic emissions testing protocol should be selected by screening programs concerned with cost and cost-effectiveness, although there are certain caveats to consider. SIGNIFICANCE: The most significant barriers to implementation of universal newborn hearing screening programs have been financial, and this study compares the most common protocols currently in use. This study can assist program directors not only in the decision to initiate universal screening but also in their choice of screening protocol.


1995 ◽  
Vol 17 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Karl R. White ◽  
Thomas R. Behrens ◽  
Bonnie Strickland

Although the importance of identifying significant hearing loss at an early age has long been recognized, it is generally acknowledged that newborn hearing screening programs in the United States have not been very successful. The problem has been that available techniques were impractical, too expensive, or invalid. This article summarizes the data regarding the use of transient evoked otoacoustic emissions (TEOAE) in a universal newborn hearing screening program and describes various facets of program implementation. It is concluded that available data provide clear evidence that TEOAE can be used to significantly reduce the average age of identification for hearing loss in the U.S.


OTO Open ◽  
2020 ◽  
Vol 4 (2) ◽  
pp. 2473974X2092358
Author(s):  
Michael Yong ◽  
Neelima Panth ◽  
Catherine M. McMahon ◽  
Peter R. Thorne ◽  
Susan D. Emmett

Objective School hearing screening may mitigate the effects of childhood hearing loss through early identification and intervention. This study provides an overview of existing school hearing screening programs around the world, identifies gaps in the literature, and develops priorities for future research. Data Sources A structured search of the PubMed, Embase, and Cochrane Library databases. Review Methods A total of 65 articles were included according to predefined inclusion criteria. Parameters of interest included age groups screened, audiometric protocols, referral criteria, use of adjunct screening tests, rescreening procedures, hearing loss prevalence, screening test sensitivity and specificity, and loss to follow-up. Conclusions School hearing screening is mandated in few regions worldwide, and there is little accountability regarding whether testing is performed. Screening protocols differ in terms of screening tests included and thresholds used. The most common protocols included a mix of pure tone screening (0.5, 1, 2, and 4 kHz), otoscopy, and tympanometry. Estimates of region-specific disease prevalence were methodologically inaccurate, and rescreening was poorly addressed. Loss to follow-up was also a ubiquitous concern. Implications for Practice There is an urgent need for standardized school hearing screening protocol guidelines globally, which will facilitate more accurate studies of hearing loss prevalence and determination of screening test sensitivity and specificity. In turn, these steps will increase the robustness with which we can study the effects of screening and treatment interventions, and they will support the development of guidelines on the screening, diagnostic, and rehabilitation services needed to reduce the impact of childhood hearing loss.


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