Clinical Significance of Combined Hearing and Deafness Predisposing Gene Screening in Newborns
WANG Xiaoyan
PAN Yongjun
JIANG Xinye
ZHANG Ting
WU Zhijun
SHI Jia
MENG Xina
XU Fei
WEI Yarong
Abstract：Objective To analyze the results of hearing and gene screening in 1027 newborns and investigate the signifi-cance of combined hearing and gene screening. Methods Otoacoustic emissions (OAE) were used for both the first and sec-ond step hearing screening. Newborns failing OAE tests underwent auditory brainstem response (ABR) testing at 3 months af-ter birth. Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) was used to de-tect 20 mutations in 4 deafness predisposing genes (GJB2, GJB3, SLC26A4 and mtDNA 12SrRNA). Results Twenty four new-borns failed the first step hearing screening and 12 failed the second step hearing screening. Fifty two newborns carried muta-tions with a positive detection rate of 5.06%(52/1027). There were 31 GJB2 gene mutations carriers with a positive detection rate of 3.02%(31/1027) and 21 SLC26A4 gene mutations carriers with a positive detection rate of 2.04%(21/1027). Conclu-sions Combined newborn hearing and gene screening provids genetic etiology information and is significant for early diagno-sis of some newborn deafness. Gene screening results can also guide premarital and prenatal genetic counseling and interven-tion for patients and carriers in the future.
Keywords：NewbornHearing screeningGenes screening
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( 463-466 )