Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China
复制标题
全国人口遗传筛查改善了中国新生儿听力损失筛查的结果
DOI：
10.1038/s41436-019-0481-6
复制
发表时间：
2019-10-01
影响因子：
8.8
通讯作者：
Peng, Zhiyu
中科院分区：
文献类型：
--
作者：
Wang, Qiuju;Xiang, Jiale;Peng, Zhiyu
目的：由于样本量和结果数据有限，同时进行新生儿听力和基因筛查的益处尚未得到统计证明。为了填补这一空白，我们用基因筛查结果对新生儿的结局进行了分析。方法：对2012年至2017年中国地区的新生儿进行了20种与听力损失相关的遗传变异的筛查。遗传结果被分类为阳性、有风险、不确定或阴性。结果：在12,778名接受基因筛查的新生儿中，有12,778人在初次听力筛查转介的3个月内听力损失(60%比5.0%，P<；0.001)，而失访/记录失败率(5%比22%，P<；0.001)低于不确定组。重要的是，基因筛查发现的听力受损婴儿比单独进行听力筛查多13%，并确定了2638名(0.23%)易患听力筛查无法检测到的可预防耳毒性的新生儿。结论：纳入基因筛查可以通过阐明病因、辨别高危亚群以进行警惕管理、识别更多可能从早期干预中受益的儿童，并告知高危新生儿及其母亲亲属耳毒性易感性增加，从而提高新生儿听力筛查计划的有效性。
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.