title: Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families.
abstract: OBJECTIVE
  Genetic counseling and prenatal diagnosis are very necessary and accurate to detect hereditary hearing loss, especially in high-risk families. Prenatal diagnosis is testing for diseases or conditions in fetuses before born, which gives parents the chance to prepare psychologically, financially and medically for the probable health and educational needs of the affected neonates.
  
  
  METHODS
  54 unrelated families with children affected with non-syndromic sensorineural hearing loss were enrolled in the study and received genetic analysis with microarray and DNA sequencing technologies. Genetic counseling was provided to each participating families, and prenatal diagnosis was given to those at risk and would like to know their fetuses' genotypes and probable hearing statuses.
  
  
  RESULTS
  Half the cases in the present study were diagnosed with confirmed pathogenic mutations and clear inheritance patterns. After receiving genetic counseling, 24 carrier couples with pathogenic mutations chose to proceed prenatal diagnosis, the results of which were in accordance with the pregnancy outcomes. Infants prenatally detected to be monoallelic mutation carriers and those harbored neither deafness-causing mutations form their parents passed newborn hearing screening and six-month follow-ups, while neonates prenatally detected to be carriers of diallelic or compound heterozygous mutations developed hearing loss after birth.
  
  
  CONCLUSIONS
  With appropriate genetic counseling and support services provided, the genetic testing and the prenatal diagnosis of hearing loss were valued by carrier couples for the information provided for future family planning and probably the preparation for the health and educational needs of the affected neonates.
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Yin
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wu
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Mingqin
authors.initials: M
authors.lastname: Mai
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Hongke
authors.initials: H
authors.lastname: Ding
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China.
authors.forename: Jiexia
authors.initials: J
authors.lastname: Yang
authors.affiliation: Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong 510010, PR China. Electronic address: zhangxiaozhuang55@126.com.
authors.forename: Xiaozhuang
authors.initials: X
authors.lastname: Zhang
mesh_terms: D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: Genetic counseling; Hearing loss; High-risk families; Prenatal diagnosis