Journal of International Reproductive Health/Family Planning ›› 2017, Vol. 36 ›› Issue (6): 454-456.

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Genetic Tests in Infants Who Failed to Pass the Neonatal Hearing Screening

LI Tian-jie,LIANG Jian-mei,WANG Xiang-dong,WANG Qing-ze,FENG Ji-zhen   

  1. Department of Eugenics Genetics,Shijiazhuang Maternal and Child Health Care Hospital,Shijiazhuang 050081,China(LI Tian-jie, FENG Ji-zhen);The Second Department of Gynecology,Shijiazhuang Maternal and Child Health Care Hospital,Shijiazhuang 050081,China(LIANG Jian-mei);Function Department,Shijiazhuang Ping′an Hospital,Shijiazhuang 050051,China(WANG Xiang-dong);Clinical Laboratory,Xinji Maternal and Child Health Care Hospital,Shijiazhuang 052360,China(WANG Qing-ze)
  • Received:2017-09-14 Revised:2017-10-27 Published:2017-11-15 Online:2017-11-15
  • Contact: FENG Ji-zhen,E-mail:279406985@qq.com E-mail:litianjie616@163.com

Abstract: Objective:To analyze the mutations of common deafness genes in the newborns from Shijiazhuang City who failed to pass the hearing screening, so as to explore the clinical significance of the deafness genes detection. Methods: 134 newborns who failed to pass the hearing screening of OAE and AABR when 42 days were tested the common genes related with deafness, including GJB2 (235delC, 299-300delAT), SLC26A4 (IVS7-2A>G, 2168A>G) and mtDNA12SrRNA (1494C>T, 1555A>G). Results: 22 infants carried mutations, and the carrier rate was 16.42%. There were 2 homogeneous and 10 heterozygous mutations of 235delC, and one 235delC/299-300delAT compound heterozygous. Also, there were 2 homogeneous and 6 heterozygous mutations of IVS7-2A>G, and one IVS7-2A>G/2168A>G compound heterozygous. Conclusions: The test of common deafness genes is helpful to diagnose and intervent early the sensorineural deafness in children, suggesting its important clinical significance.

Key words: Hearing tests, Genes, Mutation, Deafness, Hearing disorders, Infant, newborn