scholarly journals Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China

2021 ◽  
Vol 9 ◽  
Author(s):  
Xiangrong Tang ◽  
Lihua Liu ◽  
Sulan Liang ◽  
Meie Liang ◽  
Tao Liao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
South China ◽  
Genetic Screening ◽  
Hearing Screening ◽  
Ethnic Population ◽  
Pathogenic Variants ◽  
Minority Ethnic Groups ◽  
Significant Difference ◽  
Newborn Hearing ◽  
Minority Ethnic

Hearing loss is a common sensory deficit in humans with intricate genomic landscape and mutational signature. Approximately 1–3 out of 1,000 newborns have hearing loss and up to 60% of these cases have a genetic etiology. In this study, we conducted the concurrent newborn hearing and genetic screening in 20 mutations (18 pathogenic variants in GJB2, SLC26A4, and MT-RNR1 and 2 uncertain clinical significance variants in GJB3) for 9,506 normal newborns (4,977 [52.4%] males) from 22 ethnic population in South China. A total of 1,079 (11.4%) newborns failed to pass the initial hearing screening; 160 (1.7%) infants failed to pass the re-screening, and 135 (1.4%) infants presented the diagnostic hearing loss. For the genetic screening, 220 (2.3%) newborns who presented at least one of the screened mutations were more likely to fail the hearing screening and have diagnostic hearing loss than mutation-negative newborns. In comparison to the differences of distribution of mutations, we did not identify any significant difference in the prevalence of screened mutations between Han group (n = 5,265) and Zhuang group (n = 3,464), despite the lack of number of minority ethnic groups. Studies including larger number of minority ethnic populations are needed in the future.

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 ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Screening ◽  
Outcome Data ◽  
Convincing Evidence ◽  
Hearing Screening ◽  
Loss To Follow Up ◽  
Screening Programs ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing

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.

scholarly journals Delivery Route and the Outcome of Newborn Hearing Screening of Full-Term Neonates Born in a Public Maternal-Infant Hospital in the South of Brazil

2020 ◽  
Author(s):  
Luíza Silva Vernier ◽  
Karoline Lemos Schneider ◽  
Claudia Zanini ◽  
Tatiana Paniz ◽  
Daniela Centenaro Levandowski
Keyword(s):  
Hearing Loss ◽  
Vaginal Delivery ◽  
Statistical Significance ◽  
False Negative ◽  
Hearing Screening ◽  
Full Term ◽  
Newborn Hearing Screening ◽  
Significant Difference ◽  
Newborn Hearing ◽  
Route Of Delivery

Abstract Introduction The newborn hearing screening (NHS) is the most effective strategy for detecting newborns and infants suspected to have hearing loss. Objective To verify possible associations between the route of delivery and the results of the NHS conducted at 3 independent times (24, 36, and 36 hours with a facilitator auricular maneuver [FAM]) in the lives of full-term newborns. Methods A descriptive, observational, prospective study performed with a sample of 462 newborns, with a gestational age ≥ 37 weeks, without risk indicators of hearing loss. The NHS was conducted as a routine element of the facilities, two times: at 24 and 36 hours of life. In the presence of a “failure” in the last test, a new one was immediately performed, following the FAM. Statistic analyses were carried out on the program SPSS version 21.0 (IBM Inc., Armonk, NY, USA). Results Of the 462 newborns assessed, 304 (65.80%) were born by vaginal delivery. There was a statistical significance of “pass” in the NHS for the 24-hour evaluation (p ≤ 0.001 for a vaginal delivery and p = 0.002 for a cesarean delivery), with the prevalence of the “pass” index being higher when the baby's lifespan was greater. A statistically significant difference was not observed when the NHS results were compared by taking into account the babies' routes of delivery and the different times of life. Conclusion These findings show that full-term babies who were born by cesarean did not show more “failure” in the NHS results, contradicting the hypothesis of the study. Furthermore, to reduce the false-negative rates, regardless of the route of delivery, this assessment should be conducted after the first 24 hours of the newborns' life.

Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen

2021 ◽  
pp. 1-9
Author(s):  
Philippa Horn ◽  
Carlie Driscoll ◽  
Jane Fitzgibbons ◽  
Rachael Beswick
Keyword(s):  
Hearing Loss ◽  
Trisomy 21 ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Craniofacial Abnormalities ◽  
Universal Newborn Hearing Screening ◽  
Increased Risk ◽  
Newborn Hearing ◽  
Pierre Robin ◽  
Early Diagnostic

Purpose The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of early hearing loss despite passing UNHS. To establish whether earlier diagnostic audiological assessment is warranted for all infants with a syndrome or CFA, regardless of screening outcome, this study compared audiological outcomes of those who passed UNHS and those who referred. Method A retrospective analysis was performed on infants with a syndrome or CFA born between July 1, 2012, and June 30, 2017 who participated in Queensland, Australia's state-wide UNHS program. Results Permanent childhood hearing loss (PCHL) yield was higher among infants who referred on newborn hearing screening (51.20%) than in those who passed. Nonetheless, 27.47% of infants who passed were subsequently diagnosed with hearing loss (4.45% PCHL, 23.02% transient conductive), but PCHL was generally milder in this cohort. After microtia/atresia, the most common PCHL etiologies were Trisomy 21, other syndromes, and cleft palate. Of the other syndromes, Pierre Robin sequence featured prominently among infants who passed the hearing screen and were subsequently diagnosed with PCHL, whereas there was a broader mix of other syndromes that caused PCHL in infants who referred on screening. Conclusion Children identified with a syndrome or CFA benefit from early diagnostic audiological assessment, regardless of their newborn hearing screening outcome.

scholarly journals Narrative review of EHDI in South Africa

2015 ◽  
Vol 62 (1) ◽  
Author(s):  
Selvarani Moodley ◽  
Claudine Storbeck
Keyword(s):  
South Africa ◽  
Hearing Loss ◽  
Hearing Screening ◽  
Narrative Review ◽  
Current Status ◽  
Western Cape ◽  
Comprehensive Overview ◽  
National Priority ◽  
Newborn Hearing ◽  
Made In

Background: With 17 babies born with hearing loss every day in South Africa, there is a pressing need for systematic Early Hearing Detection and Intervention (EHDI) services. Progress is being made in offering newborn hearing screening and studies have been conducted to document these processes within South Africa. However, due to the lack of a national and holistic overview of EHDI services to date, an accurate picture of the current status of EHDI within the South African context is required. Objective: To document and profile what has been published within the field of EHDI in South Africa over the last two decades (Jan 1995–Sept 2014) in order to gain a comprehensive overview of the current status and practice of screening and diagnosis in the field of paediatric hearing loss. Method: A narrative review of peer-reviewed articles related to EHDI in South Africa was conducted by searching the EBSCOHOST, SCOPUS and JSTOR databases for the period January 1995 to September 2014. Results: Results indicate that over the last two decades research and publications in the field of EHDI have increased considerably. These publications have revealed extensive knowledge related to paediatric hearing screening and intervention services in South Africa; however, this knowledge seems to be limited primarily to the provinces of Gauteng and the Western Cape. Furthermore, studies pertaining to diagnosis have revealed that, although much has been written on the scientific aspects on tools for diagnosis of hearing loss, there is a lack of comprehensive information on diagnostic protocols and procedures. Conclusion: Despite the clear progress being made in South Africa in the field of early hearing detection and intervention, there is a need for comprehensive studies on protocols and procedures in diagnosing paediatric hearing loss. Finally, the narrative review revealed a clear need to ensure that development and growth in the field of EHDI is a national priority and extends beyond the two provinces currently showing growth.

scholarly journals Concurrent genetic and standard screening test for hearing reduction

2020 ◽  
Vol 66 (2) ◽  
pp. 35-40
Author(s):  
Marina Davcheva Chakar ◽  
Gjorgji Bozhinovski ◽  
Emilija Shukarova Stefanovska ◽  
Dejan Trajkov
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Genetic Screening ◽  
Screening Test ◽  
Screening Program ◽  
Deaf Child ◽  
Hearing Screening ◽  
Pathogenic Variant ◽  
Gjb2 Gene ◽  
Brainstem Response

Reduction of hearing is the most common sensory impairment among newborns with an incidence of 1-3 per 1000 births. Introduction of an Auditory Newborn screening program allows early identification of hearing impairment. Mainly, congenital hearing loss in early childhood is a result of genetic changes. Due to high frequency of GJB2 pathogenic variants, its molecular characterization among sensorineural hearing reduction cases is already conducted as a routine analysis in many countries. The aim of this study is to show our initial results in the effort to determine whether genetic screening along with the standard hearing screening in newborns is justified. Otoacoustic emission (OAE) method was conducted in 223 newborns at risk of hearing impairment. Among them, 7 did not pass the test in both ears while 9 exhibited one-sided hearing loss. In all 7 children with indication of profound bilateral deafness, the diagnosis was confirmed using auditory brainstem response. Genetic screening of GJB2 gene was performed in 6 of them. Genetic analysis of GJB2 revealed homozygous state of the most common pathogenic variant 35delG in 3 (50%) of the analyzed infants. In the remaining 3 no pathogenic variant was determined. The results indicate that performing auditory OAE together with genetic screening is justified. In newborns who have not passed the hearing screening test and have profound hearing loss, without other syndrome traits, screening for mutations of GJB2 gene should be conducted. Genetic screening enables establishment of early definite diagnosis for deafness and helps in conducting adequate therapy providing timely rehabilitation and social inclusion of deaf child. Key words: hearing loss, genetic screening, auditory screening, GJB2 gene

Evaluation of the effectiveness of newborn hearing screening program in Zahedan: A cross-sectional study

2021 ◽  
Vol 15 (6) ◽  
pp. 2067-2071
Author(s):  
Gholam-Ali Dashti Khavidaki ◽  
Reza Gharibi
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Screening Program ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Cross Sectional ◽  
Screening Programs ◽  
Second Stage ◽  
Maternity Hospitals ◽  
Newborn Hearing

Introduction: Hearing loss is one of the most common congenital disorders. The prevalence of this disorder in different communities has been reported between 3.5 to 9 percent, which can have adverse effects on language learning, communication, and education of children. Also, early diagnosis of this disorder in newborns is not possible without the use of hearing screening. Therefore, the aim of this study was to evaluate the effectiveness of newborn hearing screening programs in Zahedan. Method: In this cross-sectional observational study, all babies born in the maternity hospitals of Zahedan city (maternity hospitals of Nabi Akram, Imam Ali, and Social Security hospitals) in 2020, were examined. In order to conduct the study, TEOAE was initially performed for all neonates. Then, based on the results obtained in the ODA test and in case of unsatisfactory response, cases were referred for re-evaluation. Infants who were rejected again in the second stage were immediately subjected to the AABR test and if they failed in this test, they were also subjected to a diagnostic ABR test. Results: Based on our results, 7700 infants were first evaluated with the OAE test. Of these, 580 (8%) had no OAE response. Out of 580 infants rejected in the first stage, 76 infants were also rejected in the second stage; Among them, 8 infants were re-diagnosed with hearing impairments. Finally, out of 3 infants who were diagnosed with hearing loss, 1 (33%) had conductive hearing loss and 2 (67%) had sensorineural hearing loss. Conclusion: Based on the findings of the present study, the implementation of a comprehensive neonatal hearing screening program is necessary for the timely and early diagnosis and treatment of hearing loss. Also, screening can improve the health of children and their personal, social, and educational development in the future. Keywords: Hearing screening, hearing loss, newborns, OAE, AABR

Concurrent Hearing and Genetic Screening of 18 001 Neonates with Hearing Diagnose in Nantong, China

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Genetic Screening ◽  
Late Onset ◽  
Gene Mutations ◽  
Hearing Screening ◽  
12S Rrna ◽  
Drug Induced ◽  
Dna Test ◽  
Deafness Gene

Abstract Objectives: Concurrent hearing and genetic screening of newborns is expected to play an important role in the early detection and diagnosis of congenital deafness, which triggers an intervention, as well as in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced hearing loss (HL).Methods: A Deafness Gene Variant Detection Array Kit covering fifteen variants in four genes was used to screen for deafness genes in 18001 infants.Results: A total of 108 neonates did not pass the second hearing screening. In addition, 912 (5.07%) screened positive for deafness-associated variants, including 78 (0.43%) genetically referred and 834 (4.63%) genetic deafness-associated variant carriers. Of the 912 screened positive cases, 880 passed the hearing screening, and 32 failed. A total of 62 (0.34%) cases carried the mtDNA 12S rRNA variants. A total of 108 cases did not pass the hearing screening and underwent a hearing diagnostic examination. An expanded DNA test identified 17 patients who possessed deafness gene mutations, increasing the detection rate to 5.16%.Conclusion: Early detection, diagnosis, and interventions are necessary for newborns who are susceptible to deafness. A good strategy is to use a small panel to quickly screen all subjects and then apply an extended panel to study the cause of deafness in affected patients.

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