Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

Qiuju Wang, Jiale Xiang, Jun Sun, Yun Yang, Jing Guan, Dayong Wang, Cui Song, Ling Guo, Hongyang Wang, Yaqiu Chen, Junhong Leng, Xiaman Wang, Junqing Zhang, Bing Han, Jing Zou, Chengbin Yan, Lidong Zhao, Hongyu Luo, Yuan Han, Wen YuanHongyun Zhang, Wei Wang, Jian Wang, Huanming Yang, Xun Xu, Ye Yin, Cynthia C. Morton, Lijian Zhao, Shida Zhu, Jun Shen, Zhiyu Peng

Research output: Contribution to journalArticlepeer-review


Purpose: The benefits of concurrent newborn hearing and genetic screening have not been statistically proven due to limited sample sizes and outcome data. To fill this gap, we analyzed outcomes of newborns with genetic screening results. Methods: Newborns in China were screened for 20 hearing-loss–related genetic variants from 2012 to 2017. Genetic results were categorized as positive, at-risk, inconclusive, or negative. Hearing screening results, risk factors, and up-to-date hearing status were followed up via phone interviews. Results: Following up 12,778 of 1.2 million genetically screened newborns revealed a higher rate of hearing loss by three months of age among referrals from the initial hearing screening (60% vs. 5.0%, P < 0.001) and a lower rate of lost-to-follow-up/documentation (5% vs. 22%, P < 0.001) in the positive group than in the inconclusive group. Importantly, genetic screening detected 13% more hearing-impaired infants than hearing screening alone and identified 2,638 (0.23% of total) newborns predisposed to preventable ototoxicity undetectable by hearing screening. Conclusion: Incorporating genetic screening improves the effectiveness of newborn hearing screening programs by elucidating etiologies, discerning high-risk subgroups for vigilant management, identifying additional children who may benefit from early intervention, and informing at-risk newborns and their maternal relatives of increased susceptibility to ototoxicity.

Original languageEnglish
JournalGenetics in Medicine
Early online date20 Mar 2019
Publication statusPublished - 2019


  • clinical benefits
  • genetic screening
  • hearing loss
  • hearing screening
  • newborns


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