Peng Qi, Huang Suran, Liang Yuan, Ma Keze, Li Siping, Yang Lin, Li Wenrui, Ma Qiang, Liu Qian, Zhong Baimao, Lu Xiaomei
1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .
2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
Genet Test Mol Biomarkers. 2016 Oct;20(10):603-608. doi: 10.1089/gtmb.2016.0055. Epub 2016 Aug 19.
The goal of this study was to investigate the use of concurrent genetic screening together with standard newborn hearing screening (NHS) in an effort to provide a scientific basis for the beneficial use of concurrent genetic hearing screening in newborns. Our aim was to improve the neonatal detection rate of hearing impairment and the potential for hearing loss, allowing for increased early intervention and potentially allowing for prevention of later onset hearing loss. This information could also be used to increase the effectiveness of genetic counseling regarding hearing impairment.
A total of 9317 neonates from Children's Hospital of Dongguan and Dongguan People's Hospital were included in this study between January 2015 and October 2015. Twenty hotspot hearing-associated mutations of four common deafness- susceptibility genes (GJB2, GJB3, SLC26A4, and MTRNR1) were analyzed by matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The results of genetic screening and NHS were concurrently analyzed.
A total of 129 infants (1.38%) exhibited hearing loss as determined by otoacoustic emission (OAE) testing. The genetic screening revealed that 348 (3.74%) individuals had at least one mutant allele. In total, 34 (0.36%) of the neonates carried a causal complement of mutations. The overwhelming majority of the genetically referred newborns passed the OAE hearing screening, but could be at risk for later hearing loss.
This study furthers the understanding of the etiology of hearing loss and proves that it is beneficial to use genetic screening along with OAE screening of neonates to improve detection rates of at-risk infants. Our results show that this concurrent testing allows for better early identification of infants at risk for hearing loss, which may occur before speech and language development. Prevention of hearing loss can be achieved by avoiding the use of antibiotics containing amino glycosides in infants whose mutations make them extremely sensitive to these antibiotics. This information is also useful in genetic counseling, providing region-specific mutation information.
本研究的目的是调查同时进行基因筛查与标准新生儿听力筛查（NHS）的情况，以便为新生儿同时进行基因听力筛查的有益应用提供科学依据。我们的目标是提高新生儿听力障碍和听力损失可能性的检测率，从而增加早期干预，并有可能预防迟发性听力损失。这些信息还可用于提高关于听力障碍的遗传咨询的有效性。
2015年1月至2015年10月期间，东莞市儿童医院和东莞市人民医院的9317名新生儿被纳入本研究。通过基质辅助激光解吸电离飞行时间质谱（MALDI-TOF-MS）分析了四个常见耳聋易感基因（GJB2、GJB3、SLC26A4和MTRNR1）的20个热点听力相关突变。同时分析了基因筛查和NHS的结果。
通过耳声发射（OAE）测试确定，共有129名婴儿（1.38%）存在听力损失。基因筛查显示，348名（3.74%）个体至少有一个突变等位基因。总共有34名（0.36%）新生儿携带致病变异组合。绝大多数经基因检测转诊的新生儿通过了OAE听力筛查，但可能存在迟发性听力损失风险。
本研究进一步加深了对听力损失病因的理解，并证明将基因筛查与新生儿OAE筛查同时进行有利于提高高危婴儿的检测率。我们的结果表明，这种同时检测能够更好地早期识别有听力损失风险的婴儿，这种听力损失可能发生在言语和语言发育之前。对于那些因突变而对含氨基糖苷类抗生素极其敏感的婴儿，避免使用此类抗生素可预防听力损失。这些信息在遗传咨询中也很有用，可提供特定地区的突变信息。
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