Pan Ke, Shang Zhirong, Liu Jialin, Wen Yidong, Luo Jing, Zou Dan, Wang Aichun, Li Tao, Liao Lingyan, Xie Pan
Department of Clinical Laboratory, Mianyang Maternity and Child Healthcare Hospital, Mianyang, Sichuan 621000, P.R. China.
Exp Ther Med. 2024 Jul 16;28(3):365. doi: 10.3892/etm.2024.12654. eCollection 2024 Sep.
Hearing loss is the most prevalent neurosensory disorder in humans, with significant implications for language, social and cognitive development if not diagnosed and treated early. The present systematic review and meta-analysis aimed to determine the rate of hearing screening pass and genetic screening failure [universal newborn hearing screening (UNHS) pass/genetic failure] and to investigate the advantages of combining newborn hearing and genetic screening for newborn hearing impairment. The PubMed, Embase and Cochrane databases were searched from inception to September 2023 to identify studies reporting the combination of neonatal hearing screening with genetic screening. Duplicate literature, unpublished literature, studies with incomplete data, animal experiments, literature reviews and systematic studies were excluded. All the data were processed by STATA15.1 statistical software. A total of nine cross-sectional studies were included in this meta-analysis. The sample sizes ranged from 1,716 to 180,469, and there were a total of 377,688 participants. The pooled results revealed that the prevalence of passing the UNHS while failing genetic screening was 0.31% (95% CI, 0.22-0.41%). The prevalence of UNHS pass and gap junction protein beta 2 and solute carrier family 26 member 4 variant screen failure was 0.01% (95% CI, 0.00-0.02%) and 0.00% (95% CI, 0.00%), respectively, while the prevalence of mitochondrially encoded 12S RRNA variant screening failure and UNHS pass was 0.21% (95% CI, 0.18-0.26%). Combined screening has a significant advantage over pure hearing screening, especially in terms of identifying newborns with mitochondrial gene mutations that render them sensitive to certain medications. In clinical practice, decision-makers can consider practical circumstances and leverage the benefits of combined newborn hearing and genetic screening for early diagnosis, early counseling, and early intervention in patients with hearing loss.
听力损失是人类最常见的神经感觉障碍，如果不及早诊断和治疗，会对语言、社交和认知发展产生重大影响。本系统评价和荟萃分析旨在确定听力筛查通过而基因筛查未通过（新生儿听力普遍筛查通过/基因筛查未通过）的比例，并探讨联合进行新生儿听力和基因筛查对新生儿听力障碍的优势。检索了PubMed、Embase和Cochrane数据库，时间范围从建库至2023年9月，以识别报告新生儿听力筛查与基因筛查联合应用的研究。排除重复文献、未发表文献、数据不完整的研究、动物实验、文献综述和系统评价。所有数据均采用STATA15.1统计软件进行处理。本荟萃分析共纳入9项横断面研究。样本量从1716至180469不等，共有377688名参与者。汇总结果显示，新生儿听力普遍筛查通过但基因筛查未通过的患病率为0.31%（95%CI，0.22 - 0.41%）。新生儿听力普遍筛查通过但缝隙连接蛋白β2和溶质载体家族26成员4变异筛查未通过的患病率分别为0.01%（95%CI，0.00 - 0.02%）和0.00%（95%CI，0.00%），而线粒体编码的12S rRNA变异筛查未通过但新生儿听力普遍筛查通过的患病率为0.21%（95%CI，0.18 - 0.26%）。联合筛查比单纯听力筛查具有显著优势，尤其是在识别对某些药物敏感的线粒体基因突变新生儿方面。在临床实践中，决策者可考虑实际情况，利用联合进行新生儿听力和基因筛查的优势，对听力损失患者进行早期诊断、早期咨询和早期干预。
