听力筛查联合遗传性耳聋基因检测在新生儿筛查中的应用

Hearing Screening Combined with Hereditary Deafness Gene Detection in Newborn Screening

目的探讨听力筛查联合遗传性耳聋基因检测在新生儿筛查中的应用。方法选取2018年12月~2019年7月我院接受产检的产妇509例,对所有产妇进行遗传性耳聋基因检测,并在产妇完成分娩后48 h对新生儿作常规听力筛查,确诊新生儿是否存在听力障碍。结果509例产妇经遗传性耳聋基因检测显示阳性16例,阳性率3.14%;听力筛查不通过同时伴有耳聋基因突变新生儿共5例,听力学诊断结合随访确诊3例新生儿存在听力障碍,包含1例GJB2299-300delAT突变,1例GJB2235delC突变、1例SLC26A4919-2A>G突变。结论在新生儿常规听力筛查的同时提供遗传性耳聋基因检测,能够有效弥补听力筛查的不足,可用作听力筛查工作的有效补充,有助于筛查出迟发型及潜在性耳聋患儿,提升听力障碍的检出率。

Objective To explore the application of hearing screening combined with hereditary hearing loss gene detection in newborn screening.Methods From December 2018 to July 2019,509 women undergoing maternity examinations in our hospital were selected.All women were tested for hereditary deafness genes,and routine hearing screening was performed on the newborns 48 h after the delivery.Whether there is hearing impairment.Results In 509 cases of maternal genetic deafness,16 cases were positive,with a positive rate of 3.14%;5 cases of hearing-impaired newborns with mutations in the deafness gene were identified,and 3 cases of hearing-impaired newborns were diagnosed with hearing diagnosis including 1 case GJB2299-300delAT mutation,1 case GJB2235delC mutation,1 case SLC26A4919-2A>G mutation.Conclusion Providing genetic testing for genetic deafness at the same time as routine hearing screening for newborns can effectively make up for the shortcomings of hearing screening,and can be used as an effective supplement for hearing screening.It can help to detect late-onset and potential deafness patients,improve the detection rate of hearing impairment.