Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Genet Med. 2019 Oct;21(10):2231-2238. doi: 10.1038/s41436-019-0481-6. Epub 2019 Mar 20.
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.
由于样本量和结果数据有限，尚未通过统计学证明新生儿同时进行听力和遗传筛查的益处。为了填补这一空白，我们分析了具有遗传筛查结果的新生儿的结局。
中国新生儿于 2012 年至 2017 年接受了 20 个与听力损失相关的遗传变异的筛查。将遗传结果分为阳性、处于风险中、不确定或阴性。通过电话访谈对听力筛查结果、危险因素和最新听力状况进行随访。
对 12778 名接受遗传筛查的 120 万名新生儿进行随访，发现初筛听力异常转诊者中，三个月龄时听力损失的发生率更高（60% vs. 5.0%，P<0.001），失访/无记录率更低（5% vs. 22%，P<0.001），阳性组优于不确定组。重要的是，遗传筛查比听力筛查单独检测到更多的听力受损婴儿，且发现了 2638 名（占总数的 0.23%）新生儿存在听力筛查无法检测的可预防性耳毒性倾向。
遗传筛查通过阐明病因、区分需要密切管理的高危亚组、识别可能受益于早期干预的其他儿童，以及告知有风险的新生儿及其产妇亲属对耳毒性的易感性增加，提高了新生儿听力筛查计划的有效性。
