Dataset Information

Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

ABSTRACT: Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and March 2014, with last follow-up on February 24, 2018. Hearing screening was performed using transiently evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (AABR). For genetic testing, dried blood spots were collected and nine variants in four genes, GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened using a DNA microarray platform. Of the 180,469 infants, 1,915 (1.061%) were referred bilaterally or unilaterally for hearing screening; 8,136 (4.508%) were positive for genetic screening (heterozygote, homozygote, or compound heterozygote and mtDNA homoplasmy or heteroplasmy), among whom 7,896 (4.375%) passed hearing screening. Forty (0.022%) infants carried two variants in GJB2 or SLC26A4 (homozygote or compound heterozygote) and 10 of those infants passed newborn hearing screening. In total, 409 (0.227%) infants carried the mtDNA 12S rRNA variant (m.1555A>G or m.1494C>T), and 405 of them passed newborn hearing screening. In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity.

SUBMITTER: Dai P

PROVIDER: S-EPMC6817518 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

Dai Pu P Huang Li-Hui LH Wang Guo-Jian GJ Gao Xue X Qu Chun-Yan CY Chen Xiao-Wei XW Ma Fu-Rong FR Zhang Jie J Xing Wan-Li WL Xi Shu-Yan SY Ma Bin-Rong BR Pan Ying Y Cheng Xiao-Hua XH Duan Hong H Yuan Yong-Yi YY Zhao Li-Ping LP Chang Liang L Gao Ru-Zhen RZ Liu Hai-Hong HH Zhang Wei W Huang Sha-Sha SS Kang Dong-Yang DY Liang Wei W Zhang Ke K Jiang Hong H Guo Yong-Li YL Zhou Yi Y Zhang Wan-Xia WX Lyu Fan F Jin Ying-Nan YN Zhou Zhen Z Lu Hong-Li HL Zhang Xin X Liu Ping P Ke Jia J Hao Jin-Sheng JS Huang Hai-Meng HM Jiang Di D Ni Xin X Long Mo M Zhang Luo L Qiao Jie J Morton Cynthia Casson CC Liu Xue-Zhong XZ Cheng Jing J Han De-Min DM

American journal of human genetics 20190926 4

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced HL. Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012. This study included 180,469 infants born in Beijing between April 2013 and ...[more]

PMID: 31564438

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Project description:Background and aimsConcurrent hearing and genetic screening of newborns have been widely adopted as an effective strategy in early diagnosis and intervention for hearing loss in many cities in China. Here, we aimed to firstly explore the efficacy of combining conventional hearing screening with genetic screening among the large-scale newborns in Jiangxi Province.MethodsA total of 24,349 newborns from Jiangxi Maternal and Child Health Hospital were enrolled in our study from April 2021 to June 2022. Newborn hearing screening was conducted using otoacoustic emission (OAE) and automated auditory brainstem response (AABR). Meanwhile, newborn dried blood spots were collected and twenty common variants in four genes, including GJB2, SLC26A4, MT-RNR1(12SrRNA), and GJB3, were screened using a BGISEQ-500 next generation sequencing platform. Whole coding regions sequencing of GJB2 and SLC26A4 were performed by Sanger sequencing and NGS, respectively. Following up of hearing for the newborns was undertaken by phone interviews.ResultsAmong the 24,349 newborns, 7.00% (1,704/24,349) were bilaterally or unilaterally referred in their initial hearing screening, whereas 1.30% (316/24,349) exhibited bilateral or unilateral hearing loss in the repeated screening. Genetic screening revealed that 4.813% (1,172/24,349) of the screened newborns were positive for at least one mutant allele (heterozygote, homozygote, or compound heterozygote in one gene, mtDNA homoplasmy or heteroplasmy and combined variants in different genes). A total of 1,146 individuals were identified with mutant allele in one gene, including 525 of GJB2, 371 of SLC26A4, 189 as homoplasmic or heteroplasmic of MT-RNR1, and 61 of GJB3, indicating that GJB2 and SLC26A4 are the most common endemic deafness-associated genes among newborns in Jiangxi Province. Nineteen newborns were detected with combined heterozygous variants in different genes, with "c.235delC heterozygous and c.919-2A > G heterozygous" as the most prevalent genotype. Additionally, seven newborns were screened as homozygotes or compound heterozygotes responsible for congenital or late-onset prelingual hearing loss, including three cases with GJB2 c.235delC homozygous and one with SLC26A4 c.919-2A > G homozygous variant, one case with compound heterozygous variants for GJB2 and two with compound heterozygous variants for SLC26A4. Coding regions sequencing of GJB2 or SLC26A4 for overall 265 infants revealed that 14 individuals were identified as compound heterozygote with a second pathogenic variant not screened by our genetic panel.ConclusionsHerein our study firstly investigated the efficacy of concurrent hearing screening and genetic screening of common hearing impairment variants among large-scale newborns in Jiangxi Province. Concurrent screening provides a more comprehensive approach for management of congenital or delayed onset prelingual hearing loss and prevention of drug-induced hearing impairment for newborns at risk as well as their maternal relatives. An insight into the molecular epidemiology for hearing loss genes among Jiangxi population will also be beneficial to the genetic counseling and birth defect prevention.

Project description:PURPOSE: To assess longitudinal changes in parapapillary atrophy in the adult population of Greater Beijing. METHODS: The population-based Beijing Eye Study 2006 included 3251 subjects who had participated in the Beijing Eye Study 2001 and returned for re-examination. The mean age was 60.4 ± 10.1 years. Using optic disc photographs, we measured parapapillary atrophy which was divided into alpha zone and beta zone. RESULTS: Overall progression rate of alpha zone was seen in 0.6 ± 0.1% (95% confidence interval (CI):0.3,0.9) of the subjects and of beta zone in 8.2 ± 0.5% (95%CI:7.2,9.1) of the subjects. In binary regression analysis, rate of progression of alpha zone was significantly associated higher age (P = 0.04) and the co-progression of zone Beta (P<0.001). Rate of progression of beta zone was significantly associated with higher age (P<0.001; odds ratio (OR):1.11;95%CI:1.10,1.14), higher intraocular pressure (P<0.001;OR:1.10;95%CI:1.05,1.14), higher myopic refractive error (P<0.001;OR:0.71; 95%CI:0.67,0.75), rural region of habitation (P = 0.002;OR: 0.58; 95%CI:0.41,0.82), presence of glaucomatous optic nerve damage (P<0.001;OR:2.89; 95%CI:1.62,5.14), co-progression of alpha zone (P<0.001;OR:7.13;95%CI:2.43,20.9), absence of arterial hypertension (P = 0.03;OR: 0.70; 95%CI:0.51,0.96), and thicker central corneal thickness (P = 0.02;OR:1.01;95%CI:1.00,1.01). Subjects with a non-glaucomatous optic nerve damage (n = 22) as compared to the remaining subjects did not vary in the progression rate of alpha zone (0.0% versus 0.6 ± 0.1%; P = 1.0) and beta zone (8.2 ± 0.5% versus 6.3 ± 0.6%;P = 1.0). CONCLUSIONS: In adult Chinese in Greater Beijing, the 5-year progression rate of beta zone of parapapillary atrophy (seen in 8.2 ± 0.5% of subjects) was significantly correlated with higher age, rural region of habitation, absence of arterial hypertension, higher intraocular pressure, higher myopic refractive error, thicker central corneal thickness, and presence of glaucoma. It was not associated with non-glaucomatous optic nerve damage.

Project description:ImportanceEarly identification and intervention for newborns with hearing loss (HL) may lead to improved physiological and social-emotional outcomes. The current newborn hearing screening is generally beneficial but improvements can be made.ObjectiveTo assess feasibility and evaluate utility of a modified genetic and hearing screening program for newborn infants.Design, setting, and participantsThis population-based cohort study used a 4-stage genetic and hearing screening program at 6 local hospitals in Nantong city, China. Participants were newborn infants born between January 2016 and June 2020 from the Han population. Statistical analysis was performed from April 1 to May 1, 2021.ExposuresLimited genetic screening for 15 variants in 4 common HL-associated genes and newborn hearing screening (NHS) were offered concurrently to all newborns. Hearing rescreening and/or diagnostic tests were provided for infants with evidence of HL on NHS or genetic variants on screening. Expanded genetic tests for a broader range of genes were targeted to infants with HL with negative results of limited genetic tests.Main outcomes and measuresThe detection capability for infants with hearing impairment who passed conventional hearing screening, as well as infants with normal hearing at risk of late-onset HL due to genetic susceptibility.ResultsAmong a total of 35 930 infants, 32 512 infants completed the follow-up and were included for analysis. Among the infants included in the analysis, all were from the Han population in China and 52.3% (16 988) were male. The modified genetic and hearing screening program revealed 142 cases of HL and 1299 cases of genetic variation. The limited genetic screening helped identify 31 infants who passed newborn hearing screening, reducing time for diagnosis and intervention; 425 infants with normal hearing with pathogenic SLC26A4 variation and 92 infants with MT-RNR1 variation were at risk for enlarged vestibular aqueduct and aminoglycoside-induced ototoxicity respectively, indicating early aversive or preventive management.Conclusions and relevanceThis study found that performing modified genetic and hearing screening in newborns was feasible and provides evidence that the program could identify additional subgroups of infants who need early intervention. These findings suggest an advantage for universal adoption of such a practice.

Dataset Information

Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

Publications

Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

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