Newborn Hearing Screening Research Articles

Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.

Hearing loss is a common congenital condition. Concurrent newborn hearing and limited genetic screening has been implemented in China for the last decade. However, the role of gene sequencing screening has not been evaluated. In this study, we enrolled 7501 newborns (52.7% male, 47.3% female) in our Newborn Screening with Targeted Sequencing (NESTS) program, and 90 common deafness genes were sequenced for them. Hearing status assessments were conducted via telephone from February 2021 to August 2022, for children aged 3 to 48 months. Of the universal newborn hearing screening, 126 (1.7%) newborns did not pass. Targeted sequencing identified 150 genetically positive newborns (2.0%), with 25 exhibiting dual-positive results in both screening. Following diagnostic audiometry revealed 18 hearing loss newborns and half of them had abnormal results in both screening. The positive predictive value for universal newborn hearing screening alone was merely 14.3% (18/126). However, when combined with targeted sequencing, this rate increased to 36.0% (9/25). Furthermore, limited genetic screening identified 316 carriers of hot-spot variants, but none exhibited biallelic variants. All 15 hot-spot carriers who failed physical screening demonstrated normal hearing during follow-up. In this cohort study of 7501 Newborns, Combining targeted sequencing with universal newborn hearing screening demonstrated technical feasibility and clinical utility of identifying individuals with hearing loss, especially when coupled with genetic counseling and closed-loop management. It is suggested to use this integrated method as an improved strategy instead of the current limited genetic screening program in some regions of China.

No Ear Left Behind: Wireless Earbuds for Low-Cost Hearing Screening

Hearing loss is particularly harmful for language acquisition and neuro-development if it is left undetected in early childhood. Newborn hearing screening technologies using otoacoustic emissions (OAE) rely on detecting soft sounds generated by a healthy cochlea. High-income countries like the United States frequently implement hearing screening programs for every child at birth. However, such universal hearing screening is significantly less common in low- and middle-income countries, partly due to the conventional wisdom that the test requires sensitive and expensive acoustic hardware that costs thousands of dollars. In our MobiSys paper[1], we present the first wireless earbud design for low-cost hearing screening. Our hardware-software system reliably performs hearing screening using low-cost acoustic hardware, while being in the form-factor of a wireless earbud (Figure. 1a,b). The earbud hardware is designed to work across a large age range from newborns to adults. By developing low-cost and open-source wearable technology, our work may help address global health inequities in hearing screening by democratizing these medical devices.

Unilateral Referral on Newborn Hearing Screening, What if It is IP-II? A Case Report

Unilateral Referral on Newborn Hearing Screening, What if It is IP-II? A Case Report

Current Ear and Hearing Care Practices for Infants and Toddlers with Cleft Palate in the United States.

To examine ear and hearing clinical practices across American Cleft Palate-Craniofacial Association (ACPA) approved teams in the United States. Multi-site prospective, observational, longitudinal study. Seventeen Cleft Palate Teams in the United States. Children with cleft palate, with or without cleft lip (CP ± L), born between 2015 and 2022, evaluated by 18 months (n = 1246). None. Standard of care otolaryngology and audiology appointments evaluated in the context of whether otolaryngology and audiology services were provided as embedded care within the team visit or as ancillary services. Over 71% of infants passed newborn hearing screening (NBHS). By age 18 months, only 40% of infants received audiologic follow-up while 93.6% of children received otolaryngology care. Follow-up was significantly better for infants served by teams with embedded providers versus those who refer families for ancillary services; the odds of seeing an audiologist by 18 months were three times as high among participants seen by teams with embedded audiology (OR = 3.25; CI = 2.0, 5.2) while those seen by teams with embedded otolaryngologists had more than double the odds of seeing an otolaryngologist by 18 months (OR = 2.2; CI = 1.5, 3.2). There is considerable variability across ACPA-approved centers in the US regarding the timing and completion of otolaryngology and audiologic follow-up for children with CP ± L. This study highlights the importance of following established standards of care and the impact that team composition and access to clinical services can have on equity of care.

Parental/Caregiver Satisfaction and Anxiety with Newborn Hearing Screening Program in Dakshina Karnataka, India – A Questionnaire Based Study

Parental/Caregiver Satisfaction and Anxiety with Newborn Hearing Screening Program in Dakshina Karnataka, India – A Questionnaire Based Study

Effect of Gestational Diabetes Mellitus on Newborn Hearing: A Systematic Review.

Gestational diabetes mellitus (GDM) is associated with several adverse health conditions in newborns such as preterm birth, hyperbilirubinemia, macrosomia, respiratory distress. However, the effect of GDM on the hearing sensitivity of newborns is still unclear. The study aimed to explore the effect of GDM on newborn hearing. The study aimed to explore the effect of GDM on newborn hearing. A systematic search was conducted using PubMed, Scopus, and CHINAL databases. Keywords like "gestational diabetes," "diabetic pregnancies," "hearing loss," "hearing impairment," and "hearing disorder" were used to form a search string. The Rayyan software was used for screening procedure. The full-length articles were shortlisted, extracted, and appraised. The 7 articles were included in the review. Findings suggest that hearing loss is more prevalent in newborns with GDM pregnancies than in non-GDM pregnancies. In addition, OAE findings were "referred during the first hearing screening of newborns with GDM pregnancies." The refer rate of the first bilateral hearing screening was higher for newborns with GDM pregnancies. Furthermore, children of diabetic pregnancies were found to be at risk of bilateral hearing loss, particularly sensorineural in nature. The present systematic review suggests an association between GDM and a higher refer rate in hearing screening. A multidisciplinary collaboration between gynecologists, pediatricians, and audiologists can smoothen the early detection of hearing loss in newborns with GDM pregnancies, leading to early intervention and better clinical outcomes to improve the quality of life of affected newborns.

Newborn Hearing Screening Success… Patient Care Failure.

To assess the efficacy of a newborn hearing screening program in an urban hospital 24 years after a longitudinal study identified failings in its program and recommended solutions. A hospital-specific, Pennsylvania database was queried to determine rates of in-hospital testing, referral, and diagnosis for Temple University Hospital (TUH), and to compare these with reporting sites statewide. At TUH, interviews with newborn hearing screeners and audiologists were conducted to identify barriers to care. In the year 2022, 2,006/2,069 newborns (97%) were successfully screened prior to hospital discharge at TUH. (63 babies were never tested). There were 73 who did not pass automated auditory brainstem response testing (ABR) in at least one ear. All of these 73 infants returned for repeat automated ABR testing and 50/73 passed in both ears. 23/2006 (1%) were referred to diagnostic testing. 13/23 were successfully scheduled. 11/23 passed in both ears. 2/13 were found to have hearing losses. 10 infants (43%) were lost to follow-up and were never diagnosed. Examining lost-to-follow-up rates statewide, we identified a relationship between successful follow-up and local median family income. Legislation on the state level and improvements in audiometric technology have led to highly successful in-hospital screening with relatively low false-positive rates. Despite this, inadequate outpatient follow-up testing and inequities in the American health care system continue to delay audiometric diagnosis and habilitation of congenital hearing loss. Lack of transportation, childcare for siblings, and newborn insurance status impede access to diagnostic testing. Level 3 evidence-retrospective review comparing cases and controls. Laryngoscope, 2024.

Role of Newborn Hearing Screening Done Over One Year in a Tertiary Care Hospital: A Cross-Sectional Study.

Newborn hearing screening (NHS) is universally acknowledged as a critical early intervention to prevent adverse developmental outcomes caused by undetected hearing loss. Despite its proven benefits, the implementation of NHS varies, especially in tertiary care hospitals that manage high-risk neonates. This study investigates the effectiveness and implementation of NHS protocols in these settings. This cross-sectional study was conducted in the Department of Neonatology at Saveetha Medical College, Chennai. All newborns delivered between January 2023 and December 2023 were included. Screening involved initial otoacoustic emissions (OAEs) tests, automated auditory brainstem response (AABR) followed by brainstem evoked response audiometry (BERA) for those who failed.Data on demographic characteristics, screening results, and follow-up compliance were collected and analyzed. A total of 1,398 neonates were screened. Initial screeningresulted in 416 (29.7%) referrals. Follow-up screenings showed high compliance rates, with significant detections of hearing impairments through BERA. The screening was completed for 1,341 babies. Fifty-five babies were lost to follow-up. Of these, 2 babies (0.1%) with a high risk for hearing loss were diagnosed with bilateral severe hearing loss. The study also noted demographic factors such as kinship and obstetric history that might influence hearing loss risks. NHS plays a vital role in the early detection and management of hearing impairments, which is crucial for preventing negative impacts on a child's development. This study advocates for the systematic implementation of NHS protocols in all tertiary care hospitals, especially those serving high-risk neonates, to ensure optimal developmental outcomes.

Situational assessment of age of suspicion, diagnosis, and intervention of hearing loss in pediatric population in India and factors that influence them

ObjectiveIn the absence of newborn hearing screening, identification of childhood hearing loss is primarily mediated by parents’ help-seeking behaviour. This study attempted to measure the variables age of suspicion, diagnosis, and intervention of congenital hearing loss in India in a large cohort to verify the efficiency of this approach. It aimed to study the influence of parental perceived awareness, accessibility, and affordability on these milestones. MethodData were collected through a survey method of research using a pre-developed questionnaire as the instrument. The study involved 384 parents of children with hearing loss receiving hearing healthcare services from various healthcare institutions and clinics in Karnataka, India. ResultsThe mean age of suspicion, diagnosis, and intervention of hearing loss after data analysis were 18.6, 25.0, and 30.6 months, respectively. Earlier parental suspicion of hearing loss was associated with earlier diagnosis and intervention in the child. While less than 4 % of the cohort was diagnosed before three months, less than 1 % received intervention within six months of age. Lack of awareness, accessibility, and affordability significantly delayed these milestones. Among the participants, 15.03 % had experienced at least one of the three barriers (lack of awareness, accessibility, and affordability), whereas 35.28 % had reported two barriers, and 41.71 % had reported all three barriers for their help-seeking behavior. ConclusionsRelying on parental help-seeking behaviour cannot result in early identification and intervention required for optimum pediatric hearing healthcare. India should implement comprehensive early hearing detection and intervention program that includes universal newborn hearing screening and addresses awareness, accessibility, and affordability of hearing healthcare services as critical components.

Risk of Hearing Loss in Neonates and Toddlers with in Utero Exposure to SARS-CoV-2.

Given the prevalence of neonatal hearing loss (HL) associated with intrauterine viral exposures, the goal of this study is to provide information on neonatal HL in the context of the COVID-19 pandemic. Data were drawn from the COVID-19 Mother Baby Outcomes (COMBO) Initiative. 1007 participants completed the newborn hearing screen as part of routine clinical care (COMBO-EHR cohort) and 555 completed the National Survey of Children's Health (NSCH) at 2 and/or 3 years of age for research purposes (COMBO-RSCH cohort). Maternal SARS-CoV-2 infection status during pregnancy was determined through electronic health records and maternal-reported questionnaires. In adjusted multivariate logistic regression models covarying for newborn age at assessment, mode of delivery, and gestational age at delivery, there was no significant association between intrauterine SARS-CoV-2 exposure and newborn hearing screening failure (OR = 1.05, 95% CI = 0.39-2.42, p = 0.91) in the COMBO-EHR cohort. In the COMBO-RSCH cohort, there were similar non-significant associations between intrauterine exposure to SARS-CoV-2 and maternal-reported concern for HL on the NSCH (OR = 1.19 [95% CI = 0.30-4.24], p = 0.79). There is no association between intrauterine exposure to SARS-CoV-2 and failed hearing screen in neonates. Similarly, based on the NSCH, there is no association between intrauterine exposure to SARS-CoV-2 and maternal-reported concern for hearing in toddlers. These results offer reassurance given the widespread nature of this pandemic with tens of millions of fetuses having a history of intrauterine exposure. Level 4 Laryngoscope, 2024.

Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report.

Congenital sensorineural hearing loss is a significant global health issue, primarily driven by genetic factors, such as mutations in the GJB2 gene. This report presents a Chinese girl with congenital deafness and a novel mutation of the GJB2 gene. A newborn Chinese girl exhibited signs of congenital deafness. Congenital deafness was confirmed through comprehensive newborn hearing screenings that included otologic, audiologic, and physical examinations. Genetic analysis revealed a compound heterozygous mutation involving c.188delT and c.235delC in the GJB2 gene, indicating a genetic basis for her hearing loss. The patient underwent cochlear implantation, which resulted in stable auditory outcomes. Despite follow-up difficulties, stable auditory outcomes were achieved post-cochlear implantation, highlighting the potential efficacy of this intervention in GJB2-related hearing loss. This case study enriches our understanding of GJB2 mutations and underscores the critical role of genetic testing in diagnosing congenital sensorineural hearing loss. It emphasizes the necessity for early intervention and sustained interdisciplinary care to enhance the quality of life for patients with genetic hearing impairment.

Long-term outcomes of congenital cytomegalovirus infection in children early identified by extended hearing-targeted screening

ObjectivesCongenital Cytomegalovirus (cCMV) has been associated with hearing, vision, and neurodevelopmental long-term sequelae. Despite the social burden associated with the disease, a universally accepted consensus on screening, diagnostic, therapeutic and follow-up approaches has not been reached. The present observational retrospective study aims at describing long-term sequelae and radiological abnormalities associated with cCMV in children early identified by extended hearing-targeted screening and evaluated by audiological follow-up in a single III Level Audiological Referral Center for at least 2 years. MethodsAudiological neonatal and follow-up data were available for all subjects. Data collection included clinical neonatal and virological assessment at birth. Ophthalmological, neurodevelopmental and neuroradiological follow-up abnormalities compatible with cCMV sequelae were collected by clinical reports. Spearman's rank correlation coefficient (rho-ρ) was used to evaluate possible correlations among the considered parameters. Results61 newborns were identified by extended hearing-targeted cCMV screening and diagnosed mostly (83.6 %) by PCR viral DNA extraction in urine collected within the 15° day of life. Seventeen babies were born preterm, with a mean gestational age of 33.5 weeks. Sixteen patients (26.2 %) were admitted to an Intensive or sub-Intensive Neonatal Care Unit. At birth, 35 newborns were symptomatic (57.3 %), and 19 of them received antiviral treatment by valganciclovir or ganciclovir. Overall, 20 children (32.7 %) were diagnosed with sensorineural hearing loss (SNHL), among them 17 (85 %) were refer at the newborn hearing screening while 3 (15 %) were Pass. 5/20 children (25 %) presented isolated SNHL, while in 15/20 (75 %) children SNHL was associated to other long-term sequelae. In 5 patients (25 %) a progression of the hearing threshold was observed, with a mean age of progression of 26 months of age. Risk factors for progression were a worse final hearing threshold (Spearman's ρ = 0.434; p = 0.0001) and a worse hearing threshold at birth (Spearman's ρ = 0.298; p = 0.020). Thirteen children were fitted with hearing aids, 8 of whom subsequently underwent cochlear implantation. Concerning long term impairments, 10/61 children (17 %) presented a variety of ophthalmological sequelae, while 16/40 cCMV patients (40 %) were diagnosed with neurodevelopmental abnormalities. Language delays were significantly associated with a worse hearing threshold (ρ = 0.582; p = 0.0001) and with other neurocognitive abnormalities (ρ = 0.677, p = 0.0001). 30 children underwent radiological brain evaluation by Magnetic Resonance Imaging, and 63.3 % of them presented abnormalities compatible with cCMV. Mean viral load at birth did not show significant associations with long-term sequelae. ConclusionsThe study highlights the diverse and significant long-term sequelae of cCMV infection detected through early screening. With a significant proportion of cCMV children developing sensorineural hearing loss, ophthalmological and neurodevelopmental issues, the results emphasize the importance of continuous, multidisciplinary follow-up. Early identification and tailored interventions are crucial for improving the long-term health and quality of life of children affected by cCMV.

Risk factors and hearing outcomes in infants and young children in KwaZulu-Natal, South Africa.

Targeted new-born hearing screening, based on high risk factors is recommended in the absence of universal new-born hearing screening in resource-constrained settings. The relevance of risk factors listed in the guidelines of high-income countries and used bylow-middle income countriesremains relatively unknown. Risk factors consistent with the epidemiological profile, evolution of risks and disease burden in these countries need to be considered. This study aimed to profile the frequency of risk factors and their manifestation in hearing outcomesof youngchildren in the KwaZulu-Natal province of South Africa. A chart review ofN= 1433 patients' archival audiology records was conducted, conveniently sampled from a single tertiary hospital (n= 351), a provincial assessment and therapy centre (n= 649), a university clinic (n= 291), and two schools for the deaf (n= 142). Overall, 56% of the participants presented with either a conductive, sensorineural or a mixed hearing loss; 62% of the children had between 1 and 2 risk factors present (Mean [M] = 1.1; standard deviation [s.d.] = 0.98). Admission to neonatal intensive care unit, maternal infections, bacterial and viral infections and chemotherapy, from the Joint Committee on Infant Hearing list of high risk factors were significantly associated with hearing loss (p 0.05). Known non-JCIH risks, emerging risks and other statistically significant contextually relevant risk factors were also noted. Understanding the profile of high risk factors in a given context has implications forprevention, early hearing identification and intervention services.Contribution:Targeted new-born hearing screening needs to be based on risk factors that are contextually relevant. This study is one of the first profiling high risk factors for hearing loss in children in KZN, the province with the second highest population in South Africa.

Cost-effectiveness of portable-automated ABR for universal neonatal hearing screening in India.

The World Health Organization considers Universal Neonatal Hearing Screening (UNHS) essential to global public health. Rashtriya Bal Swasthya Karyakram has included newborn hearing screening in India since 2013. The program faces human, infrastructure, and equipment shortages. First-line hearing screening with improved diagnostic accuracy is needed. The Portable Automated Auditory Brainstem Responses (P-AABR) can be used in remote areas for UNHS due to its low infrastructure needs and diagnostic accuracy. This study evaluated the cost-effectiveness of P-AABR in UNHS. We employed an analytical model based on decision trees to assess the cost-effectiveness of Otoacoustic Emission (OAE) and P-AABR. The total cost to the health system for P-AABR, regardless of true positive cases, is INR 10,535,915, while OAE costs INR 7,256,198. P-AABR detects 262 cases, whereas OAE detects 26 cases. Portable Automated ABR costs INR 97 per case detection, while OAE costs INR 67. The final ICER was 97407.69. The P-AABR device is cost-effective, safe and feasible for UNHS Rashtriya Bal Swasthya Karyakram (RBSK) programs. Beyond reducing false referrals and parent indirect costs, it detects more hearing-impaired infants. Even in shortages of skilled workers, existing staff can be trained. Thus, this study suggests integrating this device into community and primary health centers to expand UNHS coverage.

Gestational diabetes mellitus and the hearing of newborns:A nested case-control study in tropical province of China

ObjectiveThis study aims to determine the association of gestational diabetes mellitus (GDM) and the results of newborn hearing screening(NHS). MethodsA nested case-control study was conducted in a cohort of newborns who were born between June 2021 to December 2021 and underwent neonatal hearing screening.GDM was diagnosed according to the 75 g 2 h oral glucose tolerance test (OGTT) at 24–28 gestational weeks.A total of 369 pregnant women at the same hospital were individually matched in a 1:2 ratio by maternal age (±2 years), gestational age (±3 days) and sex of newborn.Chi-square test was utilized to evaluate associations between GDM and the results of NHS. ResultsAbnormal NHS results in the GDM group was more frequent than non-GDM group.When comparing the two groups (GDM case and contol), we found significant differences (p < 0.05) between them.Whereas the difference was not statistically significant (p > 0.05) by delivery modes in both case and control groups. ConclusionMaternal history of GDM could lead to significantly higher failling rate of NHS.

Newborn hearing screening in Eastern Saudi Arabia: A tertiary hospital experience.

To analyze the performance of a leading institution in implementing newborn hearing screening and address two key areas: the knowledge gap in screening practice and the prevalence of permanent sensorineural hearing loss in Saudi Arabia. We analyzed the prevalence of hearing impairment in all live births at King Fahad Hospital of the University, Al Khobar, Saudi Arabia, from September 2018 to June 2022. Automated auditory brainstem response was used for both initial screening and rescreening. Newborns who failed the rescreening underwent a diagnostic evaluation. We assessed the coverage of initial screening, the rate of lost follow-up, referrals for rescreening and diagnostic evaluation, and the prevalence of hearing impairment. A total of 5,986 newborns were born. Of these, 96.5% were screened. The passing rate for the initial screening and rescreening was 71.8%. However, 27.5% of newborns were lost to follow-up. Only 0.7% required referral for a diagnostic evaluation. The overall prevalence of hearing impairment was 2.6 per 1,000 newborns. Early identification of hearing loss through newborn screening improves the lives of affected individuals. Our program currently meets the World Health Organization's 1-3-6 benchmark goals. However, the underestimation of permanent hearing loss due to the 30% lost-to-follow-up rate is a limitation. Emphasizing the importance of the screening program is crucial to raising awareness and improving the accuracy of prevalence rates.

Hearing Screening for Congenital CytoMegaloVirus-Exploring Parents' Experiences of Completing Targeted Congenital Cytomegalovirus Screening at the Time of Their Infants' Newborn Hearing Screening.

Background/Objectives: Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disabilities, with prompt detection (<21 days of life) required to enable accurate diagnosis and anti-viral treatment where clinically appropriate. International guidelines recommend cCMV screening for infants who do not pass their Universal Newborn Hearing Screening (UNHS). This study aimed to explore parental experiences of targeted cCMV screening through the UNHS in Victoria, Australia between 2019 and 2020 (HearS-cCMV study). Methods: A qualitative study comprising 18 semi-structured interviews with parents who took saliva swabs from their infants who did not pass their UNHS. A maximum variation sampling strategy was used with data analysed using thematic analysis. Results: Four themes described 18 parents' experiences of cCMV screening: (1) parents' lack of CMV awareness prior to cCMV screening; (2) overall positive experience; (3) varied understanding of CMV post screening; and (4) parents were glad to screen their infant for cCMV. Enablers of targeted cCMV screening included the swab being simple and non-invasive, being easier to complete in the hospital than at home, and the screening being well delivered by the staff. Barriers included a potential increase in anxiety, especially with false positives, and the timing of cCMV screening coinciding with their infant not passing UNHS being difficult for some parents. Conclusions: Parent experiences of targeted cCMV screening were positive. Increasing public knowledge of cCMV and training staff members to complete the CMV swab would reduce the risk of false positives and associated parental anxiety. This would facilitate successful routine targeted cCMV screening.

Revisiting the transient-evoked otoacoustic emissions passing criteria used for newborn hearing screening

Objective To assess transient-evoked otoacoustic emissions (TEOAE) data from 15 years of a newborn hearing screening program and evaluate how well various criteria separate ears with and without hearing loss. Design Retrospective review of TEOAE data using logistic regression, receiver operating characteristic curves, and cumulative percentage graphs. Study sample: Children with hearing loss who passed TEOAE screening as a newborn were compared to children who failed TEOAE screening and normal hearing children who either passed or failed. Exclusions were applied for acquired hearing loss or auditory neuropathy. Results Ears with hearing loss that passed screening had significantly lower TEOAE response levels compared to ears with normal hearing. Noise levels, test times, and number of sweeps were also lower. Most of these ears had mild hearing loss. Logistic regression results showed that high-frequency TEOAE response level is the best predictor of hearing loss. A multivariate “logit” score calculated from the regression was the best indicator for separating ears with hearing loss from ears with normal hearing. Conclusions TEOAE response levels or an algorithm which incorporates logit scores should be considered as a minimum passing criterion to increase the sensitivity of the TEOAE screening.

Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta‑analysis.

Hearing loss is the most prevalent neurosensory disorder in humans, with significant implications for language, social and cognitive development if not diagnosed and treated early. The present systematic review and meta-analysis aimed to determine the rate of hearing screening pass and genetic screening failure [universal newborn hearing screening (UNHS) pass/genetic failure] and to investigate the advantages of combining newborn hearing and genetic screening for newborn hearing impairment. The PubMed, Embase and Cochrane databases were searched from inception to September 2023 to identify studies reporting the combination of neonatal hearing screening with genetic screening. Duplicate literature, unpublished literature, studies with incomplete data, animal experiments, literature reviews and systematic studies were excluded. All the data were processed by STATA15.1 statistical software. A total of nine cross-sectional studies were included in this meta-analysis. The sample sizes ranged from 1,716 to 180,469, and there were a total of 377,688 participants. The pooled results revealed that the prevalence of passing the UNHS while failing genetic screening was 0.31% (95% CI, 0.22-0.41%). The prevalence of UNHS pass and gap junction protein beta 2 and solute carrier family 26 member 4 variant screen failure was 0.01% (95% CI, 0.00-0.02%) and 0.00% (95% CI, 0.00%), respectively, while the prevalence of mitochondrially encoded 12S RRNA variant screening failure and UNHS pass was 0.21% (95% CI, 0.18-0.26%). Combined screening has a significant advantage over pure hearing screening, especially in terms of identifying newborns with mitochondrial gene mutations that render them sensitive to certain medications. In clinical practice, decision-makers can consider practical circumstances and leverage the benefits of combined newborn hearing and genetic screening for early diagnosis, early counseling, and early intervention in patients with hearing loss.

Detecting Hearing Loss Through Targeted Surveillance: Risk Registry and Surveillance Timeframe Recommendations.

The purpose of this study was to inform the revision of a targeted surveillance risk registry by identifying which risk factors predict postnatally identified hearing loss (PNIHL) in children who pass newborn hearing screening and to determine whether hearing surveillance beyond the age of 1 year is warranted. We used retrospective analysis of the audiological outcomes of children born in the state of Queensland, Australia, between January 1, 2010, and December 31, 2019, who passed the newborn hearing screen with risk factors. Approximately one third of children were lost to follow-up and could not be included in the analysis. Risk factors that predicted PNIHL in the analyzed cohort were as follows: syndromes associated with hearing loss, craniofacial anomalies, perinatal infections, and family history of permanent childhood hearing loss. Severe asphyxia did not predict PNIHL but yielded some cases of significant bilateral hearing loss. Hearing loss in children with a history of prolonged ventilation was mild and/or unilateral in nature (except in cases where the hearing loss was due to an unrelated etiology). There were no cases of PNIHL in children with hyperbilirubinemia or neonatal bacterial meningitis. For the risk factors that predicted PNIHL, nearly all hearing losses were detected by 1 year of age, except for children with family history where one quarter of hearing losses had a later onset. The four risk factors recommended for efficient postnatal identification of hearing loss are as follows: syndromes associated with hearing loss, craniofacial anomalies, perinatal infection, and family history of permanent childhood hearing loss. Hearing surveillance through to 1 year old is sufficient except for children with a family history, where a second phase assessment is indicated. Alternative targeted surveillance protocols and models of care are required to minimize loss to follow-up.