Zaputovic Sanja, Stimac Tea, Prpic Igor, Mahulja-Stamenkovic Vesna, Medica Igor, Peterlin Borut
Department of Obstetrics and Gynecology, Rijeka University Hospital Center, Cambierieva 17, 51000 Rijeka, Croatia.
Croat Med J. 2005 Oct;46(5):797-800.
To determine the proportion of newborns diagnosed with hearing impairment through the hearing impairment screening program in newborns, and the frequency of 35delG/GJB2 mutation as a cause of hearing impairment. The results of the study imply the integration of the mutation analysis in the neonatal screening program.
Evoked otoacustic emission (E-OAE) screening program was performed among 6019 newborns at the Department of Obstetrics and Gynaecology, Rijeka University Hospital Center, between October 2002 and December 2004. Newborns diagnosed with hearing impairment were re-examined after three weeks and if abnormal responses persisted, the diagnosis was evaluated by auditory brainstem evoked response (ABER) testing. Children with confirmed diagnosis were examined by allele-specific polymerase chain reaction to identify the presence of 35delG/GJB2 mutation.
After the first and second stage of screening, 86 newborns were suspect of having hearing impairment. ABER confirmed the diagnosis of hearing impairment in 14 children. Molecular analysis revealed 35delG/GJB2 mutation in 2 of 8 children analyzed. The mutation was homozygous in one, and heterozygous in the other child.
Neonatal hearing impairment screening is useful for early diagnosis of hearing impairment. It should be complemented with the 35delG/GJB2 mutation analysis, because the identification of the mutation and the etiologic diagnosis might improve the medical treatment and genetic counselling of patients and families with hearing impairment.
确定通过新生儿听力障碍筛查项目诊断出的听力障碍新生儿比例，以及作为听力障碍病因的35delG/GJB2突变频率。研究结果表明应将突变分析纳入新生儿筛查项目。
2002年10月至2004年12月期间，在里耶卡大学医院中心妇产科对6019名新生儿进行了耳声发射（E-OAE）筛查项目。被诊断为听力障碍的新生儿在三周后重新接受检查，如果异常反应持续存在，则通过听性脑干诱发电位（ABER）测试评估诊断。确诊的儿童通过等位基因特异性聚合酶链反应进行检查，以确定是否存在35delG/GJB2突变。
在第一阶段和第二阶段筛查后，86名新生儿被怀疑有听力障碍。ABER确诊14名儿童患有听力障碍。分子分析显示，在8名接受分析的儿童中，有2名存在35delG/GJB2突变。其中一名儿童为纯合突变，另一名为杂合突变。
新生儿听力障碍筛查有助于早期诊断听力障碍。应辅以35delG/GJB2突变分析，因为突变的鉴定和病因诊断可能会改善听力障碍患者及其家庭的治疗和遗传咨询。
