Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Genetics in medicine, 2019-10, Vol.21 (10), p.2231-2238

Ort / Verlag

United States: Elsevier Limited

Erscheinungsjahr

2019

Link zum Volltext

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• 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. 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. 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. 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.