scholarly journals Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

2022 ◽  
Vol 2022 ◽  
pp. 1-8
Author(s):  
Cao Guomei ◽  
Zhang Luyan ◽  
Dai Lingling ◽  
Huang Chunhong ◽  
Chen Shan

Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the highest prevalence (2.12%), approximately accounting for 48.9% of the total carrier frequency. The carrier frequency of SLC26A4 c.919-2A>G was 0.87%, while the most common variant in mitochondrial DNA (mtDNA) MT-RNR1 gene was m.1555A>G, and its carrier frequency was 0.184%. In the OAE testing, 92 newborns passing hearing screening were tested positively for variants in 4 genes, and 2 of 42 newborns who failed in the first hearing test were found to mutate in 4 genes. Conclusion. Herein, the results concerning the carrier rates for deafness gene mutations of Ningbo population are reported. Our study is beneficial to the insight into the deafness genomic epidemiology for deafness genes in Ningbo population and provides the reference for healthcare in Ningbo.

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  

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.


2020 ◽  
Vol 29 (2) ◽  
pp. 165-169
Author(s):  
Shunwang Cao ◽  
Yanhua Sha ◽  
Peifeng Ke ◽  
Tingting Li ◽  
Weixi Yuan ◽  
...  

Purpose The aim of this study was to determine the rate of deafness gene mutations in the Foshan area of South China. Method We enrolled the infants delivered in Foshan Maternity and Children's Healthcare Hospital. Deafness gene mutation was detected by HibriMax method. Our study tested 47,538 newborns within 3 days after birth, including 13 sites in four genes: GJB2 (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), GJB3 (c.583 C>T), SLC26A4 (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and mtDNA 12S rRNA (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G). The birth condition of infants was collected, including sex, low or high birth weight, twins, and premature delivery. Results In a total of 47,538 newborns, 1,415 were positively identified with deafness gene mutations. The total rate of the deafness gene mutation was 2.976%. The carrier rates of GJB2 (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG), GJB3 (c.583 C>T), SLC26A4 (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and mtDNA 12S rRNA (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G) mutations were 0.000%, 0.048%, 1.422%, 0.185%, 0.000%, 0.076%, 0.116%, 0.755%, 0.160%, 0.187%, 0.021%, 0.000%, and 0.006%, respectively. Conclusions Our study showed that the c.235 del C GJB2 mutation was the leading deafness-related mutation in the Foshan area of South China. Deafness gene mutations screening in newborns detected by bloodspot-based genetic screening tests can help the diagnosis of newborn congenital hearing loss.


2021 ◽  
Vol 12 ◽  
Author(s):  
Luhang Cai ◽  
Ya Liu ◽  
Yaping Xu ◽  
Hang Yang ◽  
Lihui Lv ◽  
...  

PurposeThe conventional genetic screening for deafness involves 9–20 variants from four genes. This study expands screening to analyze the mutation types and frequency of hereditary deafness genes in Zhejiang, China, and explore the significance of in-depth deafness genetic screening in newborns.MethodsThis was a multi-centre study conducted in 5,120 newborns from 12 major hospitals in the East-West (including mountains and islands) of Zhejiang Province. Concurrent hearing and genetic screening was performed. For genetic testing, 159 variants of 22 genes were screened, including CDH23, COL11A1, DFNA5, DFNB59, DSPP, GJB2, GJB3, KCNJ10, MT-RNR1, MT-TL1, MT-TS1, MYO15A, MYO7A, OTOF, PCDH15, SLC26A4, SOX10, TCOF1, TMC1, USH1G, WFS1, and WHRN using next-generation sequencing. Newborns who failed to have genetic mutations or hearing screening were diagnosed audiologically at the age of 6 months.ResultsA total of 4,893 newborns (95.57%) have passed the initial hearing screening, and 7 (0.14%) have failed in repeated screening. Of these, 446 (8.71%) newborns carried at least one genetic deafness-associated variant. High-risk pathogenic variants were found in 11 newborns (0.21%) (nine homozygotes and two compound heterozygotes), and eight of these infants have passed the hearing screening. The frequency of mutations in GJB2, GJB3, SLC26A4, 12SrRNA, and TMC1 was 5.43%, 0.59%, 1.91%, 0.98%, and 0.02%, respectively. The positive rate of in-depth screening was significantly increased when compared with 20 variants in four genes of traditional testing, wherein GJB2 was increased by 97.2%, SLC26A4 by 21% and MT-RNR1 by 150%. The most common mutation variants were GJB2c.235delC and SLC26A4c.919-2A > G, followed by GJB2c.299_300delAT. Homoplasmic mutation in MT-RNR1 was the most common, including m.1555A > G, m.961T > C, m.1095T > C. All these infants have passed routine hearing screening. The positive rate of MT-RNR1 mutation was significantly higher in newborns with high-risk factors of maternal pregnancy.ConclusionThe positive rate of deafness gene mutations in the Zhejiang region is higher than that of the database, mainly in GJB2c.235delC, SLC26A4 c.919-2A > G, and m.1555A > G variants. The expanded genetic screening in the detection rate of diseasecausing variants was significantly improved. It is helpful in identifying high-risk children for follow-up intervention.


1979 ◽  
Vol 10 (4) ◽  
pp. 249-258
Author(s):  
Joan Lynch

This report describes a Checklist which has been used to supplement speech, hearing, and language screening tests of preschool children. The Checklist is designed to gain information from the preschool teacher about the child’s linguistic functioning in the classroom. This serves to alert the examiner to both problems and strengths which could not be discovered during standard screening. Analysis of responses to this Checklist with several populations of children suggests that, without adding extra time or expense to the screening, information on the Checklist provides insight into crucial language parameters which are characteristically not available to individuals providing screening services.


2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S802-S802
Author(s):  
Manuel Penton ◽  
Aaron Herzog ◽  
Jun Pan ◽  
Charles Manopla ◽  
Caitlin Otto ◽  
...  

Abstract Background CMV is the most common non-hereditary cause of sensorineural hearing loss (SNHL) in children in the United States. SNHL may be the only presenting symptom in otherwise asymptomatic infants. Several states are making CMV testing mandatory for newborn infants who have a hearing deficit. Testing should be performed before 21 days of life to diagnose congenital CMV infection and provide effective therapy. However, the results of a retrospective 1 year audit of all newborn patients in the nursery of University Hospital of Brooklyn (UHB) who failed their hearing screen found that none were tested for CMV and approximately half failed to follow-up with audiology. Therefor we developed a new protocol to ensure testing and follow-up. Methods Under the new protocol, newborns who fail an initial and repeat hearing screen are tested for CMV in urine by culture and the audiology appointment is scheduled before discharge. Patients are tracked by a pediatric infectious disease fellow to ensure adherence to protocol. Results The pre-intervention audit conducted from November 1, 2017 to October 31, 2018 found 37/923 (4%) infants failed their hearing screening tests. Although 34/37 (92%) of these children had audiology appointments made before discharge, only 19 (56%) actually attended. Two (11%) children failed an otoacoustic emissions hearing test. One infant also went on to fail an auditory brainstem response test; both were lost to follow-up. None of these infants was tested for CMV. The new protocol was initiated November 1, 2018, 11/372 (3%) infants failed initial and repeat hearing screening tests. All 11 (100%) of these children had audiology appointments made before discharge, of which 9 (82%) attended. 2 (18%) of these children failed the otoacoustic emissions hearing test at that visit, 1 infant was lost to follow-up; 9 infants who failed hearing test were tested for CMV; 1 (9%) was positive. Conclusion Although it has only been in place for 5 months, the new protocol has increased adherence to audiology appointments. CMV testing has increased from 0% to 82% and 1 patient has tested positive for congenital CMV infection. The ongoing success of this protocol could facilitate timely and appropriate treatment of CMV with valgancyclovir. Disclosures All authors: No reported disclosures.


2021 ◽  
Author(s):  
Hussein El Hajj ◽  
Douglas R. Bish ◽  
Ebru K. Bish

Improving Newborn Screening for Genetic Diseases Screening newborns for life-threatening genetic diseases is an important public health initiative. Cystic fibrosis is one of the most prevalent diseases in this context. As part of the cystic fibrosis screening process, all states in the United States use multiple tests, including genetic tests that detect a subset of the more than 300 genetic variants (specific mutations) that cause cystic fibrosis. In “Optimal Genetic Screening for Cystic Fibrosis,” El-Hajj, D.R. Bish, and E.K. Bish develop a decision support model to select which genetic variants to screen for, considering the trade-off between classification accuracy and testing cost, and the technological constraints that limit the number of variants selected. Because variant prevalence rates are highly uncertain, a robust optimization framework is developed. Further, two commonly used cystic fibrosis screening processes are analytically compared, and conditions under which each process dominates are established. A case study based on published data are provided.


2019 ◽  
Author(s):  
Jill Hagenkord ◽  
Birgit Funke ◽  
Emily Qian ◽  
Madhuri Hegde ◽  
Kevin B Jacobs ◽  
...  

Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherited diseases presents unique challenges. Unlike most screening tests, the natural history and disease prevalence of most rare inherited diseases in an unselected population are unknown. It is difficult or impossible to obtain a “truth set” cohort for clinical validation studies. As a result, it is not possible to accurately calculate clinical positive and negative predictive values for “likely pathogenic” genetic variants, which are commonly returned in genetic screening assays. In addition, many of the genetic conditions included in screening panels do not have clinical confirmatory tests. All of these elements are typically required to justify the development of a screening test, according to the World Health Organization screening principles. Nevertheless, as the cost of DNA sequencing continues to fall, more individuals are opting to undergo genomic testing in the absence of a clinical indication. Despite the challenges, reasonable estimates can be deduced and used to inform test design strategies. Here, we review test design principles and apply them to genetic screening.


2020 ◽  
Vol 66 (2) ◽  
pp. 35-40
Author(s):  
Marina Davcheva Chakar ◽  
Gjorgji Bozhinovski ◽  
Emilija Shukarova Stefanovska ◽  
Dejan Trajkov

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


2019 ◽  
Author(s):  
Jill Hagenkord ◽  
Birgit Funke ◽  
Emily Qian ◽  
Madhuri Hegde ◽  
Kevin B Jacobs ◽  
...  

Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherited diseases presents unique challenges. Unlike most screening tests, the natural history and disease prevalence of most rare inherited diseases in an unselected population are unknown. It is difficult or impossible to obtain a “truth set” cohort for clinical validation studies. As a result, it is not possible to accurately calculate clinical positive and negative predictive values for “likely pathogenic” genetic variants, which are commonly returned in genetic screening assays. In addition, many of the genetic conditions included in screening panels do not have clinical confirmatory tests. All of these elements are typically required to justify the development of a screening test, according to the World Health Organization screening principles. Nevertheless, as the cost of DNA sequencing continues to fall, more individuals are opting to undergo genomic testing in the absence of a clinical indication. Despite the challenges, reasonable estimates can be deduced and used to inform test design strategies. Here, we review test design principles and apply them to genetic screening.


2021 ◽  
Vol 17 ◽  
Author(s):  
Amjad Nuseir ◽  
Maha Zaitoun ◽  
Hasan Albalas ◽  
Ahmad Alomari ◽  
Waseem Khasawneh ◽  
...  

Background: Hearing loss is an important disorder affecting newborns admitted to NICU. A national hearing screening program using otoacoustic emission testing is an essential tool to identify hearing loss early in neonates enabling early intervention to avoid further challenges of pediatric deafness. On the other hand, a delay of the auditory pathway maturation in preterm babies compared to term newborns has already been suggested in the literature. Taking this information into account, in this paper, we aim to identify the best time to perform NICU infant hearing screening tests. Objectives: We aim to study the clinical factors and neonatal morbidities that may affect neonatal hearing screening results using otoacoustic emission test, in order to decrease the false positive test results that increase parental anxiety and increase the need for subsequent investigations. Methods: This is a prospective cross-sectional study that included 204 infants who were admitted to a tertiary referral hospital NICU unit between September 2017 and May 2018. Both transient evoked otoacoustic emissions (TEOAE) and distortion product otoacoustic emission (DPOAE) screening tests were performed in order to screen hearing loss. Results: Our study included 204 infants, 52.9% of which were males and 47.1% females. There were correlations between both hyperbilirubinemia and ventilation ≥5 days and the failure rate of the first OAE test results among NICU infants where the P-values were (p=0.0133) and (p=0.0456) respectively. Moreover, 165 babies (80.9%) passed the first OAE with a mean birth weight of 2759 gram and mean maternal age of 30.6 years, while 39 babies (19.1%) failed the test with a mean birth weight of 2436 gram and mean maternal age of 32 years. There was no statistically significant relation between both maternal age and birth weight with failure of the first screening test. Conclusion: Our study suggests a higher failure rate of the first OAE in NICU infants who had hyperbilirubinemia or ventilation ≥5 days. Therefore, our recommendation is to postpone the first phase of hearing screening for those infants until the first scheduled vaccine appointment to achieve high compliance to attendance and decrease distress to the family that can be associated with false-negative results of the test.


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