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

Pu Dai; Li-Hui Huang; Guo-Jian Wang; Xue Gao; Chun-Yan Qu; Xiao-Wei Chen; Fu-Rong Ma; Jie Zhang; Wan-Li Xing; Shu-Yan Xi; Bin-Rong Ma; Ying Pan; Xiao-Hua Cheng; Hong Duan; Yong-Yi Yuan; Li-Ping Zhao; Liang Chang; Ru-Zhen Gao; Hai-Hong Liu; Wei Zhang; Sha-Sha Huang; Dong-Yang Kang; Wei Liang; Ke Zhang; Hong Jiang; Yong-Li Guo; Yi Zhou; Wan-Xia Zhang; Fan Lyu; Ying-Nan Jin; Zhen Zhou; Hong-Li Lu; Xin Zhang; Ping Liu; Jia Ke; Jin-Sheng Hao; Hai-Meng Huang; Di Jiang; Xin Ni; Mo Long; Luo Zhang; Jie Qiao; Cynthia Casson Morton; Xue-Zhong Liu; Jing Cheng; De-Min Han

doi:10.1016/j.ajhg.2019.09.003

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

Journal article

Open access

Peer reviewed

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

Pu Dai, Li-Hui Huang, Guo-Jian Wang, Xue Gao, Chun-Yan Qu, Xiao-Wei Chen, Fu-Rong Ma, Jie Zhang, Wan-Li Xing, Shu-Yan Xi, …

American journal of human genetics, Vol.105(4), pp.803-812

2019-10-03

DOI: https://doi.org/10.1016/j.ajhg.2019.09.003

PMCID: PMC6817518

PMID: 31564438

Abstract

deafness genes

newborn hearing screening

habilitation

microarray

pathogenic variant

ototoxicity

genetic deafness

newborn genetic screening

late-onset hearing loss

aminoglycoside antibiotics

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.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.239 Tissue Barriers; 1.239.1384 Gap Junction
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China
Creators: Pu Dai - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Li-Hui Huang - Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China
Guo-Jian Wang - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Xue Gao - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Chun-Yan Qu - China Rehabilitation Research Center for Hearing and Speech Impairment, A8, Huixinli, Anwai, Chaoyang District, Beijing, 100029, P. R. China
Xiao-Wei Chen - Department of Otorhinolaryngology Head and Neck Surgery, Peking Union Medical College Hospital, Beijing, 100730, P. R. China
Fu-Rong Ma - Department of Otorhinolaryngology Head and Neck Surgery, Peking University Third Hospital, Beijing, 100191, P. R. China
Jie Zhang - Beijing Children’s Hospital, Capital Medical University, National Center of Children’s Health, Beijing, 100045, P. R. China
Wan-Li Xing - Department of Biomedical Engineering, Tsinghua University School of Medicine, Beijing, 100084, P. R. China
Shu-Yan Xi - Beijing Municipal Health Commission, Beijing, 100053, P. R. China
Bin-Rong Ma - School of Biomedical Engineering, Capital Medical University, Beijing, 100069, P. R. China
Ying Pan - Department of MCH, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, 100026, P. R. China
Xiao-Hua Cheng - Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China
Hong Duan - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Yong-Yi Yuan - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Li-Ping Zhao - Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China
Liang Chang - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, P.R. China
Ru-Zhen Gao - Department of Otorhinolaryngology Head and Neck Surgery, Peking Union Medical College Hospital, Beijing, 100730, P. R. China
Hai-Hong Liu - Beijing Children’s Hospital, Capital Medical University, National Center of Children’s Health, Beijing, 100045, P. R. China
Wei Zhang - Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China
Sha-Sha Huang - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Dong-Yang Kang - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Wei Liang - China Rehabilitation Research Center for Hearing and Speech Impairment, A8, Huixinli, Anwai, Chaoyang District, Beijing, 100029, P. R. China
Ke Zhang - Department of Otorhinolaryngology Head and Neck Surgery, Peking University Third Hospital, Beijing, 100191, P. R. China
Hong Jiang - Department of Otorhinolaryngology Head and Neck Surgery, Peking Union Medical College Hospital, Beijing, 100730, P. R. China
Yong-Li Guo - Beijing Children’s Hospital, Capital Medical University, National Center of Children’s Health, Beijing, 100045, P. R. China
Yi Zhou - Beijing Children’s Hospital, Capital Medical University, National Center of Children’s Health, Beijing, 100045, P. R. China
Wan-Xia Zhang - Department of MCH, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, 100026, P. R. China
Fan Lyu - Beijing Municipal Health Commission, Beijing, 100053, P. R. China
Ying-Nan Jin - Beijing Municipal Health Commission, Beijing, 100053, P. R. China
Zhen Zhou - School of Biomedical Engineering, Capital Medical University, Beijing, 100069, P. R. China
Hong-Li Lu - CapitalBio Corporation & National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, P. R. China
Xin Zhang - Department of Otolaryngology Head and Neck Surgery, Chinese People’s Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China
Ping Liu - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, P.R. China
Jia Ke - Department of Otorhinolaryngology Head and Neck Surgery, Peking University Third Hospital, Beijing, 100191, P. R. China
Jin-Sheng Hao - Beijing Children’s Hospital, Capital Medical University, National Center of Children’s Health, Beijing, 100045, P. R. China
Hai-Meng Huang - CapitalBio Corporation & National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, P. R. China
Di Jiang - CapitalBio Corporation & National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, P. R. China
Xin Ni - Beijing Children’s Hospital, Capital Medical University, National Center of Children’s Health, Beijing, 100045, P. R. China
Mo Long - China Rehabilitation Research Center for Hearing and Speech Impairment, A8, Huixinli, Anwai, Chaoyang District, Beijing, 100029, P. R. China
Luo Zhang - Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China
Jie Qiao - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, P.R. China
Cynthia Casson Morton - Department of Obstetrics and Gynecology and of Pathology, Harvard Medical School, Boston, MA 02115, USA
Xue-Zhong Liu - Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Jing Cheng - Department of Biomedical Engineering, Tsinghua University School of Medicine, Beijing, 100084, P. R. China
De-Min Han - Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China
Publication Details: American journal of human genetics, Vol.105(4), pp.803-812
Publisher: Elsevier Inc
Academic Unit: Miller School of Medicine; UMMG Department of Ophthalmology; UMMG Department of Otolaryngology
Language: English
Resource Type: Journal article
PMID: 31564438
PMCID: PMC6817518
Record Identifier: 991031576073802976