[Analysis of results of concurrent hearing and deafness genetic screening and follow up of 33 911 newborns].

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  • Author(s): Lei J;Lei J; Han L; Deng X; Long M; Xiao Y; Lin X; Zhang J
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jan 10; Vol. 38 (1), pp. 32-36.
  • Publication Type:
    Journal Article
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Deafness*/epidemiology ; Deafness*/genetics ; Genetic Testing*/statistics & numerical data ; Hearing*/genetics ; Hearing Tests*/statistics & numerical data ; Neonatal Screening*; China/epidemiology ; DNA Mutational Analysis ; Follow-Up Studies ; Genes/genetics ; Humans ; Infant, Newborn ; Mutation
    • Abstract:
      Objective: To analyze the results of concurrent hearing and deafness genetic screening and follow up of newborns.
      Methods: In total 33 911 babies born to 5 designated hospitals in Nanshan District of Shenzhen city from October 2017 to December 2019 were included. All subjects underwent concurrent hearing and deafness genetic screening covering 21 variants of 4 genes including GJB2, SLC26A4, GJB3 and Mt12SrRNA. For those with positive results, Sanger sequencing was carried out for confirmation.
      Results: 93.32% subjects passed the first-round hearing screening, and 87.01% passed the recheck testing. The overall detection rate was 4.18%. The detection rates for GJB2, SLC26A4, GJB3 and Mt12srRNA variants were 1.98%, 1.58%, 0.37% and 0.25%, respectively. 126 and 84 subjects were found with high risk for delayed-onset and drug-induced hearing loss, respectively. In addition, 4 and 5 subjects were found to harbor homozygous/compound heterozygous variants of the GJB2 and SLC26A4 genes, respectively. Concurrent screening showed that subjects (with heterozygous variants) who did not passed the two round hearing test were as follows: GJB2 with 6.75% in the first round and 2.61% in the second round testing, SLC26A4 (3.3%/1.2%), GJB3 (0.72%/0.14%) and 12SrRNA (0.36%/Nil), respectively. Moreover, the No-pass rate in the subjects with homozygous or compound variants in single gene, heterozygous variant in single gene, heterozygous variant in multiple genes, and homozygous variant in GJB3 gene were significantly higher than the subjects with negative results of genetic screening.
      Conclusion: Concurrent newborn genetic screening can enhance the effectiveness of hearing screening and enable earlier identification and intervention for children with hearing impairment. Follow-up can improve the diagnostic rate for children who are positive for the concurrent screening. Nevertheless, genetic and hearing screening cannot replace the diagnostic testing. It is necessary to conduct comprehensive analysis for the results of genetic and hearing screening and radiological examinations. Sanger sequencing and next-generation sequencing are critical for ascertain the diagnosis.
    • Publication Date:
      Date Created: 20210110 Date Completed: 20210125 Latest Revision: 20210125
    • Publication Date:
      20240829
    • Accession Number:
      10.3760/cma.j.cn511374-20200322-00189
    • Accession Number:
      33423254