Department of Obstetrics & Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Department of Obstetrics & Gynecology, Changzhou Maternity and Child Health Care Hospital, Changzhou, Jiangsu, China.
Mol Genet Genomic Med. 2024 Feb;12(2):e2384. doi: 10.1002/mgg3.2384.
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.
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.
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.
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.
遗传疾病导致一半的先天性听力损失病例。听力筛查在发现听力损失（HL）方面意义重大，但在诊断方面能力较弱，这可以通过遗传筛查来补充。
为了找到一种可行的方法来完成遗传筛查，并评估其与听力筛查联合应用的优势，我们在 2022 年 1 月 1 日至 2023 年 12 月 10 日期间，在江苏省的三家医院对 2488 名汉族新生儿进行了一项基于观察的队列研究。对四个常见的 HL 相关基因中的 20 个变体进行多色熔解曲线分析（MMCA）的遗传筛查，并同时为所有参与者提供听力筛查。
在 2488 名合格的新生儿中，共有 170 名（6.8%）至少检测到一个变体，其中转诊比例较高（p<0.05）。遗传筛查与听力筛查相结合，发现了听力筛查漏诊的确诊听力损失病例，增加了 25.0%（2 例）。
本研究表明，通过 MMCA 进行的遗传筛查与听力筛查相结合，可有效地发现潜在的 HL 病例，且在其他地方进行验证是切实可行的。
