Scholarlink

Aim <p>This study aimed to assess neonatal sensorineural hearing loss (SNHL) in newborns in Menoufia Governorate, Egypt, who underwent an extended hearing loss screening program, focusing on prevalence, types, and genetic analysis.</p> Patients and methods <p>This study was conducted on 3500 Egyptian newborn infants who came to the family health care units in Menoufia Governorate for routine neonatal hearing screening tests, including 1st and 2nd otoacoustic emissions (OAE). A diagnostic auditory brainstem response (ABR) test was performed on the neonates who failed to pass the 2nd OAE screening test with a REFER result. Whole exome sequencing (WES) was performed on the neonates with sensorineural hearing loss (SNHL).</p> Results <p>The referral rate after the first time OAE was 5.1%, while after the second time, it was 0.4%. Most referred cases were bilaterally affected in both tests. Due to otitis media with effusion, conductive hearing loss was detected in 6 neonates (0.17%). Sensorineural hearing loss was identified in two newborns (0.05%). WES revealed a homozygous pathogenic variant in <i>the SLC26A4</i> gene (c.1198delT: p.Cys400ValfsTer32) in one neonate and a homozygous variant of uncertain significance in the <i>MYO5C</i> gene (c.1322C&gt;T: p.Thr441Ile) in the other one.</p> Conclusion <p>Sensorineural hearing loss constitutes 0.05% of the Egyptian neonates in Menoufia Governorate. Genetic variants in the <i>SLC26A4</i> and <i>MYO5C</i> genes represent the possible genetic causes of SNHL in the two affected newborns.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Sensorineural hearing loss among the newborns in Menoufia Governorate, Egypt: prevalence and genetic analysis

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年11月29日

查看全文
  • Noha Rabie Bayomy,
  • Wafaa Moustafa M. Abo El-Fotoh,
  • Fawzia Mohamed Abdelkader,
  • Asmaa Salah Moaty,
  • Mohamed S. Abdel-Hamid,
  • Zeinab Sabri Abouzouna

摘要

Aim

This study aimed to assess neonatal sensorineural hearing loss (SNHL) in newborns in Menoufia Governorate, Egypt, who underwent an extended hearing loss screening program, focusing on prevalence, types, and genetic analysis.

Patients and methods

This study was conducted on 3500 Egyptian newborn infants who came to the family health care units in Menoufia Governorate for routine neonatal hearing screening tests, including 1st and 2nd otoacoustic emissions (OAE). A diagnostic auditory brainstem response (ABR) test was performed on the neonates who failed to pass the 2nd OAE screening test with a REFER result. Whole exome sequencing (WES) was performed on the neonates with sensorineural hearing loss (SNHL).

Results

The referral rate after the first time OAE was 5.1%, while after the second time, it was 0.4%. Most referred cases were bilaterally affected in both tests. Due to otitis media with effusion, conductive hearing loss was detected in 6 neonates (0.17%). Sensorineural hearing loss was identified in two newborns (0.05%). WES revealed a homozygous pathogenic variant in the SLC26A4 gene (c.1198delT: p.Cys400ValfsTer32) in one neonate and a homozygous variant of uncertain significance in the MYO5C gene (c.1322C>T: p.Thr441Ile) in the other one.

Conclusion

Sensorineural hearing loss constitutes 0.05% of the Egyptian neonates in Menoufia Governorate. Genetic variants in the SLC26A4 and MYO5C genes represent the possible genetic causes of SNHL in the two affected newborns.