title: [Prenatal screening and diagnosis of genetic deafness by microarray].
abstract: OBJECTIVE
  To evaluate a microarray-based mutation screening method for genetic deafness and its application in prenatal diagnosis.
  
  
  METHODS
  Mutation screening of common deafness genes was performed in pregnant women and volunteers spouses. Nine common mutations in four major deafness genes, GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA, were detected simultaneously by a microarray-based method. Genetic counseling was given based on their testing results.
  
  
  RESULTS
  5.11% of pregnant women carried at least one mutation. Among them, seven carried mutation in the mitochondria 12S rRNA gene and were offered aminoglycoside-induced ototoxicity warning. For other mutation carriers of GJB2 or SLC26A4 genes, additional mutation screening was performed in their husbands by direct sequencing. A total of 20 couples were at risk of giving birth to children with genetic deafness. Of five couples who selected to undergo prenatal diagnostic testing of the fetus, four were diagnosed as wild type or heterozygous for the tested genes and one as p.V37I/c.235delC compound heterozygous for GJB2.
  
  
  CONCLUSIONS
  DNA microarray is a quick, easy and reliable method to screen mutations in genetic deafness genes. Application of this method in prenatal screening and diagnosis might effectively reduce the occurrence of genetic deafness.
authors: Department of Otorhinolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
authors: Lian-hua
authors: LH
authors: Sun
authors: Lei
authors: L
authors: Li
authors: Xiao-wen
authors: XW
authors: Wang
authors: Ya-zhong
authors: YZ
authors: Zhu
authors: Yong-chuan
authors: YC
authors: Chai
authors: Xiao-hua
authors: XH
authors: Li
authors: Hao
authors: H
authors: Wu
authors: Tao
authors: T
authors: Yang
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26