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Dai P, Huang LH, Wang GJ, et al. Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. Am J Hum Genet. 2019;105(4):803-812doi: 10.1016/j.ajhg.2019.09.003.
Dai, P., Huang, L. H., Wang, G. J., Gao, X., Qu, C. Y., Chen, X. W., Ma, F. R., Zhang, J., Xing, W. L., Xi, S. Y., Ma, B. R., Pan, Y., Cheng, X. H., Duan, H., Yuan, Y. Y., Zhao, L. P., Chang, L., Gao, R. Z., Liu, H. H., Zhang, W., Huang, S. S., Kang, D. Y., Liang, W., Zhang, K., Jiang, H., Guo, Y. L., Zhou, Y., Zhang, W. X., Lyu, F., Jin, Y. N., Zhou, Z., Lu, H. L., Zhang, X., Liu, P., Ke, J., Hao, J. S., Huang, H. M., Jiang, D., Ni, X., Long, M., Zhang, L., Qiao, J., Morton, C. C., Liu, X. Z., Cheng, J., & Han, D. M. (2019). Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. American journal of human genetics, 105(4), 803-812. https://doi.org/10.1016/j.ajhg.2019.09.003
Dai, Pu, et al. "Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China." American journal of human genetics vol. 105,4 (2019): 803-812. doi: https://doi.org/10.1016/j.ajhg.2019.09.003
Dai P, Huang LH, Wang GJ, Gao X, Qu CY, Chen XW, Ma FR, Zhang J, Xing WL, Xi SY, Ma BR, Pan Y, Cheng XH, Duan H, Yuan YY, Zhao LP, Chang L, Gao RZ, Liu HH, Zhang W, Huang SS, Kang DY, Liang W, Zhang K, Jiang H, Guo YL, Zhou Y, Zhang WX, Lyu F, Jin YN, Zhou Z, Lu HL, Zhang X, Liu P, Ke J, Hao JS, Huang HM, Jiang D, Ni X, Long M, Zhang L, Qiao J, Morton CC, Liu XZ, Cheng J, Han DM. Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. Am J Hum Genet. 2019 Oct 03;105(4):803-812. doi: 10.1016/j.ajhg.2019.09.003. Epub 2019 Sep 26. PMID: 31564438; PMCID: PMC6817518.
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Am J Hum Genet. 2019 Oct 03;105(4):803-812. doi: 10.1016/j.ajhg.2019.09.003. Epub 2019 Sep 26.

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

American journal of human genetics

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

Affiliations

  1. Department of Otolaryngology Head and Neck Surgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, 100853, P. R. China.
  2. Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China; Beijing Institute of Otolaryngology, Beijing, 100005, P. R. China; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, 100005, P. R. China.
  3. China Rehabilitation Research Center for Hearing and Speech Impairment, A8, Huixinli, Anwai, Chaoyang District, Beijing, 100029, P. R. China.
  4. Department of Otorhinolaryngology Head and Neck Surgery, Peking Union Medical College Hospital, Beijing, 100730, P. R. China.
  5. Department of Otorhinolaryngology Head and Neck Surgery, Peking University Third Hospital, Beijing, 100191, P. R. China.
  6. Beijing Children's Hospital, Capital Medical University, National Center of Children's Health, Beijing, 100045, P. R. China.
  7. Department of Biomedical Engineering, Tsinghua University School of Medicine, Beijing, 100084, P. R. China.
  8. Beijing Municipal Health Commission, Beijing, 100053, P. R. China.
  9. School of Biomedical Engineering, Capital Medical University, Beijing, 100069, P. R. China.
  10. Department of MCH, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, 100026, P. R. China.
  11. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, P.R. China; National Clinical Research Center for Obstetrics and Gynecology, Beijing, 100191, P. R. China.
  12. CapitalBio Corporation & National Engineering Research Center for Beijing Biochip Technology, Beijing, 102206, P. R. China.
  13. Department of Obstetrics and Gynecology and of Pathology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Manchester Center for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester, M13 9PL, UK.
  14. Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  15. Department of Biomedical Engineering, Tsinghua University School of Medicine, Beijing, 100084, P. R. China; Center for Precision Medicine, West China Hospital, Sichuan University, Chengdu, 610041, P. R. China. Electronic address: [email protected].
  16. Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730, P. R. China; Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, 100005, P. R. China. Electronic address: [email protected].

PMID: 31564438 PMCID: PMC6817518 DOI: 10.1016/j.ajhg.2019.09.003

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.

Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Keywords: aminoglycoside antibiotics; deafness genes; genetic deafness; habilitation; late-onset hearing loss; microarray; newborn genetic screening; newborn hearing screening; ototoxicity; pathogenic variant

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