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, 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

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.

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

Conflict of interest statement

The authors declare no competing interests.

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

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