TY - JOUR
T1 - Newborn hearing concurrent gene screening can improve care for hearing loss
T2 - A study on 14,913 Chinese newborns
AU - Wang, Qiu Ju
AU - Zhao, Ya Li
AU - Rao, Shao Qi
AU - Guo, Yu Fen
AU - He, Yao
AU - Lan, Lan
AU - Yang, Wei Yan
AU - Zheng, Qing Yin
AU - Ruben, Robert J.
AU - Han, Dong Yi
AU - Shen, Yan
N1 - Funding Information:
The authors thank AI YOU HUA-XIA Charity Foundation and Audiological Development Foundation of China for their support in the program, Cindy Benedict-Alderfer for her helpful comments on the manuscript. This study was supported partially by the grant (No. 2006AA028Z181 to Dr. Wang) from the Chinese National High Tech Development Project ; by a grant from a National Natural Science Foundation of China, Key Project (No. 30830104 to Dr. Wang); by grants from the National Natural Science Foundation of China (No. 30672310 & 30771203 ); by a grant from Beijing Nature Science Technology Major Project (No. 7070002 ); by grants from the Chinese National Eleventh Five-years Scientific Program (No. 2007BAI18B12 ); by a grant from the Natural Science Foundation of Guangdong Province Key Project (No. 8251008901000007 ); by a grant from Science and Technology Planning Project of Guangdong Province (grant no. 2009A030301004 ).
PY - 2011/4
Y1 - 2011/4
N2 - Objective: Newborn hearing screening has been widely adopted and made an achievement to some degree. Current screening protocols rely solely on detecting existing auditory disorders at the time of screening and are unable to identify individuals susceptible to auditory disorders in later life. Even if the hearing loss newborn is referred, most cases could not be diagnosed until 6-12 months old with no etiology being elucidated. This study reports the first effort to combine traditional hearing screening with genetic screening to improve the efficacy of newborn hearing screening. Methods: This study was undertaken in 12 regional hospitals located in 11 provinces of China. 14,913 newborn babies received hearing concurrent genetic screening. The hearing screening was performed with OAE or AABR. Blood sample was collected with a universal newborn genetic screening card. And three common gene, mtDNA 12S rRNA, GJB2 and SLC26A4 were screened with standard protocol. Results: Among all the 14,913 newborns, 86.1% (12,837/14,913) individuals passed the first-step hearing screening, 7.8% (1168/14,913) babies passed only one side, and the other 6.1% (908/14,913) were bilaterally referred. Gene screening found 306 individuals had one or two mutant alleles, the carrier rate is 2.05% (306/14,913) among the entire newborn population. The risk for hearing loss was 100% (7/7) for those newborns carrying causative GJB2 or SLC26A4 mutations (homozygotes or compound heterozygotes), 14.4% (23/160) for GJB2 heterozygote carriers, 12.3% (15/122) for SLC26A2 heterozygous carriers, and the total prevalence of referral hearing screening was approximately 14.7% (45/306). However, 85.3% (261/306) newborns passed hearing screening among these carriers including 18 newborns with 12S rRNA mt.1555A> G pathogenic mutation, who would suffer from sudden hearing loss once applying aminoglycoside drugs. Conclusion: The cohort studies provided the essential population parameters for developing effective programs for hearing care of newborns in China. Hearing concurrent gene screening in newborns may confirm the abnormal results from hearing screening tests, help to find the etiologic of the hearing loss, and better recognize infants at risk for late-onset hearing loss occurring prior to speech and language development. In conclusion, a survey on 14,913 Chinese newborns proved that concurrent genetic screening could improve newborn hearing screening for hearing defects.
AB - Objective: Newborn hearing screening has been widely adopted and made an achievement to some degree. Current screening protocols rely solely on detecting existing auditory disorders at the time of screening and are unable to identify individuals susceptible to auditory disorders in later life. Even if the hearing loss newborn is referred, most cases could not be diagnosed until 6-12 months old with no etiology being elucidated. This study reports the first effort to combine traditional hearing screening with genetic screening to improve the efficacy of newborn hearing screening. Methods: This study was undertaken in 12 regional hospitals located in 11 provinces of China. 14,913 newborn babies received hearing concurrent genetic screening. The hearing screening was performed with OAE or AABR. Blood sample was collected with a universal newborn genetic screening card. And three common gene, mtDNA 12S rRNA, GJB2 and SLC26A4 were screened with standard protocol. Results: Among all the 14,913 newborns, 86.1% (12,837/14,913) individuals passed the first-step hearing screening, 7.8% (1168/14,913) babies passed only one side, and the other 6.1% (908/14,913) were bilaterally referred. Gene screening found 306 individuals had one or two mutant alleles, the carrier rate is 2.05% (306/14,913) among the entire newborn population. The risk for hearing loss was 100% (7/7) for those newborns carrying causative GJB2 or SLC26A4 mutations (homozygotes or compound heterozygotes), 14.4% (23/160) for GJB2 heterozygote carriers, 12.3% (15/122) for SLC26A2 heterozygous carriers, and the total prevalence of referral hearing screening was approximately 14.7% (45/306). However, 85.3% (261/306) newborns passed hearing screening among these carriers including 18 newborns with 12S rRNA mt.1555A> G pathogenic mutation, who would suffer from sudden hearing loss once applying aminoglycoside drugs. Conclusion: The cohort studies provided the essential population parameters for developing effective programs for hearing care of newborns in China. Hearing concurrent gene screening in newborns may confirm the abnormal results from hearing screening tests, help to find the etiologic of the hearing loss, and better recognize infants at risk for late-onset hearing loss occurring prior to speech and language development. In conclusion, a survey on 14,913 Chinese newborns proved that concurrent genetic screening could improve newborn hearing screening for hearing defects.
KW - GJB2
KW - Genetic screening
KW - MtDNA 12S rRNA
KW - Newborn hearing screening
KW - SLC26A4
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U2 - 10.1016/j.ijporl.2011.01.016
DO - 10.1016/j.ijporl.2011.01.016
M3 - Article
C2 - 21329993
AN - SCOPUS:79952737401
SN - 0165-5876
VL - 75
SP - 535
EP - 542
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
IS - 4
ER -