title: Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.
abstract: OBJECTIVE
  The goal of this study was to investigate the use of concurrent genetic screening together with standard newborn hearing screening (NHS) in an effort to provide a scientific basis for the beneficial use of concurrent genetic hearing screening in newborns. Our aim was to improve the neonatal detection rate of hearing impairment and the potential for hearing loss, allowing for increased early intervention and potentially allowing for prevention of later onset hearing loss. This information could also be used to increase the effectiveness of genetic counseling regarding hearing impairment.
  
  
  METHODS
  A total of 9317 neonates from Children's Hospital of Dongguan and Dongguan People's Hospital were included in this study between January 2015 and October 2015. Twenty hotspot hearing-associated mutations of four common deafness- susceptibility genes (GJB2, GJB3, SLC26A4, and MTRNR1) were analyzed by matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The results of genetic screening and NHS were concurrently analyzed.
  
  
  RESULTS
  A total of 129 infants (1.38%) exhibited hearing loss as determined by otoacoustic emission (OAE) testing. The genetic screening revealed that 348 (3.74%) individuals had at least one mutant allele. In total, 34 (0.36%) of the neonates carried a causal complement of mutations. The overwhelming majority of the genetically referred newborns passed the OAE hearing screening, but could be at risk for later hearing loss.
  
  
  CONCLUSIONS
  This study furthers the understanding of the etiology of hearing loss and proves that it is beneficial to use genetic screening along with OAE screening of neonates to improve detection rates of at-risk infants. Our results show that this concurrent testing allows for better early identification of infants at risk for hearing loss, which may occur before speech and language development. Prevention of hearing loss can be achieved by avoiding the use of antibiotics containing amino glycosides in infants whose mutations make them extremely sensitive to these antibiotics. This information is also useful in genetic counseling, providing region-specific mutation information.
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Qi
authors.initials: Q
authors.lastname: Peng
authors.affiliation: 3 Department of Gynecology and Obstetrics, Dongguan People's Hospital , Dongguan, China .
authors.forename: Suran
authors.initials: S
authors.lastname: Huang
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Yuan
authors.initials: Y
authors.lastname: Liang
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Keze
authors.initials: K
authors.lastname: Ma
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Siping
authors.initials: S
authors.lastname: Li
authors.affiliation: 4 Department of Gynecology and Obstetrics, Children's Hospital of Dongguan , Dongguan, China .
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Wenrui
authors.initials: W
authors.lastname: Li
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ma
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Qian
authors.initials: Q
authors.lastname: Liu
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Baimao
authors.initials: B
authors.lastname: Zhong
authors.affiliation: 1 Department of Neonates, Children's Hospital of Dongguan , Dongguan, China .|2 Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics , Dongguan, China .
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Lu
mesh_terms: D044466:Asian People; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26; C068044:GJB3 protein, human