An Clinical Research on Newborn Hearing Concurrent Genetic Screening in 106,513 Neonates

HAN Bing; LI Qian; ZONG Liang; LAN Lan; ZHAO Ya-li; WANG Da-yong; ZHAO Cui; LIU Nan; GUAN Jing; WANG Qiu-ju

doi:10.3969/j.issn.1672-2922.2013.03.010

Abstract：Objective To analyze the data of newborn hearing concurrent genetic screening in China, and to establish a model of hearing combined genetic screening. Methods Between December 2008 and December 2012, a total of 106,513 new-borns from 13 provinces in China were included in the study. We analyzed the universal newborn hearing screening and the newly developed genetic screening results. All newborn babies received a two step hearing screening protocol of OAEs or AABRs. Blood samples were collected with a universal newborn genetic screening card. Three common genes, MTRNR1, GJB2and SLC26A4 were screened with a standard protocol. Results Among all the 106,513 neonates, 91.48% (97,433/106, 513) passed the first-step hearing screening, 3.41%(3638/106,513) passed on one side, and 5.11%(5,442/106,513) were bilat-erally referred. Gene screening identified 3,055 individuals with one or two mutant alleles and the carrier rate was 2.87%(3, 055/106,513) among the entire newborn population. The risk for hearing loss was 100% (33/33) for those carrying causative GJB2 or SLC26A4 mutations (homozygotes or compound heterozygotes). A total of 169 newborns were found to have MTRNR1 mt.1555A>G or mt.1494C>T pathogenic mutation, who would suffer from hearing loss upon exposure to aminoglycoside drugs. Conclusions This study indicates that conventional newborn hearing screening can be improved by adding a genetic compo-nent. Genetic testing complements the current newborn hearing screening program and provides additional insights beyond what conventional audiological tests can provide, thus significantly advancing the current practice to improve the newborn hear-ing screening as a means of early discovery of genetic risk factors.