The use of genetic testing in infants who do not pass the neonatal hearing screening
LI Qi
SONG Jianmin
LIU Yaqing
FANG Ruping
DAI Pu
Abstract：Objective The current research aims is to investigate the clinical value of genetic testing in infants who do not pass the neonatal hearing screening and introduce together etiologic and audiological diagnosis of newborns. Methods We performed genetic testing for coding region of GJB2 gene,SLC26A4 c.919-2 and H723R mutation,mtDNA1494 and 1555 mutation in 110 newborns who do not pass the neonatal hearing screening in 42 days. Results 23 (20.9%) infants were detected to carry at least one mutation allele in GJB2, SLC26A4 or mitochondrial DNA. 6 (5.45%) infants were positive for hearing loss caused by GJB2 or SLC26A4 mutations (homozygote or compound heterozygote). 16(14.5%) infants are heterozy-gous of various genes. 1(0.91‰) infants had the pathological mitochondrial DNA mutation. Conclusions Detection of patho-genic mutations for hearing loss is bringing the possibility to identify children with non-syndromic deafness at an early stage. As a consequence, it will improve the current diagnosis and therapeutical option.
Keywords：Hearing lossChildrenGenetic testingMutation
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 37-40 )