PDF(Pubmed)
Abstract：
BACKGROUND: Genetic disorders ascribe to half of cases of congenital hearing loss. Hearing screening is significant in detecting hearing loss (HL) but weak at diagnosis, which can be complemented by genetic screening.
METHODS: To find a feasible method to accomplish genetic screening and evaluate its advantage when combined with hearing screening, between 1 January 2022, and 10 December 2023, we performed an observational cohort study based on 2488 neonates from the Han population at three hospitals in Jiangsu province. Genetic screening for 20 variants in four common HL-associated genes by multicolor melting curve analysis (MMCA) and hearing screening were offered concurrently to all participants.
RESULTS: In total, 170 (6.8%) of 2488 eligible neonates were detected at least one variant and among them, the proportion of referral was higher (p < 0.05). Genetic screening combined with hearing screening was associated with a 25.0% increase (2 of 8) in discovering cases of diagnosed hearing loss that were missed by hearing screening.
CONCLUSIONS: This study suggests that genetic screening combined with hearing screening by MMCA is effective at finding potential HL cases and practical to be validated in other places.
METHODS: To find a feasible method to accomplish genetic screening and evaluate its advantage when combined with hearing screening, between 1 January 2022, and 10 December 2023, we performed an observational cohort study based on 2488 neonates from the Han population at three hospitals in Jiangsu province. Genetic screening for 20 variants in four common HL-associated genes by multicolor melting curve analysis (MMCA) and hearing screening were offered concurrently to all participants.
RESULTS: In total, 170 (6.8%) of 2488 eligible neonates were detected at least one variant and among them, the proportion of referral was higher (p < 0.05). Genetic screening combined with hearing screening was associated with a 25.0% increase (2 of 8) in discovering cases of diagnosed hearing loss that were missed by hearing screening.
CONCLUSIONS: This study suggests that genetic screening combined with hearing screening by MMCA is effective at finding potential HL cases and practical to be validated in other places.
摘要：
背景：遗传性疾病导致一半的先天性听力损失。听力筛查在检测听力损失（HL）方面具有重要意义，但在诊断时较弱。这可以通过基因筛查来补充。
方法：为了找到一种可行的方法来完成基因筛查，并评估其与听力筛查相结合的优势，在2022年1月1日至2023年12月10日期间,我们在江苏省三家医院进行了一项基于2488例汉族新生儿的观察性队列研究.通过多色熔解曲线分析（MMCA）对四种常见HL相关基因中的20种变体进行遗传筛查，并同时对所有参与者进行听力筛查。
结果：总计，在2488例合格新生儿中，有170例(6.8%)检测到至少一种变异，其中，转诊比例较高(p<0.05).遗传筛查与听力筛查相结合，发现听力筛查遗漏的确诊听力损失病例增加了25.0％（8个中的2个）。
结论：这项研究表明，基因筛查与MMCA听力筛查相结合，可有效发现潜在的HL病例，并可在其他地方进行验证。
方法：为了找到一种可行的方法来完成基因筛查，并评估其与听力筛查相结合的优势，在2022年1月1日至2023年12月10日期间,我们在江苏省三家医院进行了一项基于2488例汉族新生儿的观察性队列研究.通过多色熔解曲线分析（MMCA）对四种常见HL相关基因中的20种变体进行遗传筛查，并同时对所有参与者进行听力筛查。
结果：总计，在2488例合格新生儿中，有170例(6.8%)检测到至少一种变异，其中，转诊比例较高(p<0.05).遗传筛查与听力筛查相结合，发现听力筛查遗漏的确诊听力损失病例增加了25.0％（8个中的2个）。
结论：这项研究表明，基因筛查与MMCA听力筛查相结合，可有效发现潜在的HL病例，并可在其他地方进行验证。
