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Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study

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机构: [1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China. [2]Beijing Institute of Otolaryngology, Beijing, China. [3]Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China. [4]Maternal and Child Health, Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Beijing Maternal and Child Health Care Hospital, Beijing, China. [5]Maternal and Child Health Hospital of Chao Yang District, Beijing, China. [6]CapitalBio Corporation & National Engineering Research Center for Beijing Biochip Technology, Beijing, China.
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关键词: Deafness-related genes Newborn genetic screening Newborn hearing screening Concurrent screening Hearing loss

摘要:
Concurrent screening has been proven to provide a comprehensive approach for management of congenital deafness and prevention of ototoxicity. The SLC26A4 gene is associated with late-onset hearing loss and is of great clinical concern. For much earlier detection of newborns with deafness-causing mutations in the SLC26A4 gene, the Beijing Municipal Government launched a chip for optimized genetic screening of 15 variants of 4 genes causing deafness based on a chip to screen for 9 variants of 4 genes, and 6 variants of the SLC26A4 gene have now been added. To ascertain the advantage of a screening chip including 15 variants of 4 genes, the trends in concurrent hearing and genetic screening were analyzed in 2019 and 2020. Subjects were 76,460 newborns who underwent concurrent hearing and genetic screening at 24 maternal and child care centers in Beijing from January 2019 to December 2020. Hearing screening was conducted using transiently evoked otoacoustic emissions (TEOAEs), distortion product otoacoustic emissions (DPOAE), or the automated auditory brainstem response (AABR). Dried blood spots were collected for genetic testing and 15 variants of 4 genes, namely GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened for using a DNA microarray platform. The initial referral rate for hearing screening decreased from 3.60% (1,502/41,690) in 2019 to 3.23% (1,124/34,770) in 2020, and the total referral rate for hearing screening dropped form 0.57% (236/41,690) in 2019 to 0.54% (187/34,770) in 2020, indicating the reduced false positive rate of newborn hearing screening and policies to prevent hearing loss conducted by the Beijing Municipal Government have had a significant effect. Positivity according to genetic screening was similar in 2019 (4.970%, 2,072/41,690) and 2020 (4.863%,1,691/34,770), and the most frequent mutant alleles were c.235 del C in the GJB2 gene, followed by c.919-2 A > G in the SLC26A4 gene, and c.299 del AT in the GJB2 gene. In this cohort study, 71.43% (5/7) of newborns with 2 variants of the SLC26A4 gene were screened for newly added mutations, and 28.57% (2/7) of newborns with 2 variants of the SLC26A4 gene passed hearing screening, suggesting that a screening chip including 15 variants of 4 genes was superior at early detection of hearing loss, and especially in early identification of newborns with deafness-causing mutations in the SLC26A4 gene. These findings have clinical significance.

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出版当年[2022]版:
大类 | 4 区 生物学
小类 | 4 区 生物学
最新[2023]版:
大类 | 4 区 生物学
小类 | 4 区 生物学
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出版当年[2021]版:
Q1 BIOLOGY
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Q1 BIOLOGY

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第一作者机构: [1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China. [2]Beijing Institute of Otolaryngology, Beijing, China. [3]Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China.
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通讯作者:
通讯机构: [1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China. [2]Beijing Institute of Otolaryngology, Beijing, China. [3]Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, China. [*1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China .Beijing Institute of Otolaryngology, Beijing 100005, China .Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing 100005, China.
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