Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China

Zhu, Qi; Li, Mu-Ting; Zhuang, Xun; Chen, Kai; Xu, Wan-Qing; Jiang, Yinhua; Qin, Gang

doi:10.1001/jamanetworkopen.2021.25544

Cited by 12 publications

(17 citation statements)

References 34 publications

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Section: Discussionmentioning

confidence: 99%

“…Patients with variants in SLC26A4, which may lead to sudden hearing loss after head trauma or barotrauma, were strongly advised to avoid situations that may result in sudden changes in intracranial pressure, to prevent or delay the occurrence of hearing loss. 55 Expanded genomic sequencing combined with NBHS is useful for diagnosing hearing loss, managing patients, monitoring progression, genetic counseling, and educating patients on the prevention of precipitating factors. It also highlights the importance of follow-up for preventing or delaying the occurrence of hearing loss and of early diagnosis for prompt treatment of late-onset hearing loss if it occurs.…”

Section: Discussionmentioning

confidence: 99%

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Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit

Zhu

Yang

et al. 2022

JAMA Netw Open

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Key Points Question Is expanded genomic sequencing combined with hearing screening associated with the detection of hearing loss and the improvement in the clinical management of patients in the neonatal intensive care unit (NICU)? Findings In this cohort study that included 8078 patients in the NICU, expanded genomic sequencing was associated with a 15.6% increase in cases of diagnosed hearing loss that were missed by hearing screening and changed the clinical management strategies of these patients. Of 52 patients with a diagnosis of hearing loss, 39 (75%) had genetic findings and experienced a more severe degree of hearing loss. Meaning This study suggests that expanded genomic sequencing combined with hearing screening may be effective for diagnosing hearing loss in the NICU setting.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit

Zhu

Yang

et al. 2022

JAMA Netw Open

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“…Wang et al 2019; Guo et al 2020). Many studies have demonstrated the benefits of incorporating genetic screening into universal newborn hearing screening programs, especially for common deafness-associated variants (Kenna 2021; Zhu et al 2021).…”

Section: Discussionmentioning

confidence: 99%

The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide

et al. 2022

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Objectives: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds. We aimed to analyze the frequency of common deafness-associated variants in a large population-based Chinese newborn cohort and to explore the population-specific features in diverse populations worldwide. Design: This population-based cohort study analyzed the frequency of common deafness-associated variants in 3,555,336 newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Participants were newborn infants born between January 2007 and September 2020. Limited genetic screening for 20 variants in 4 common deafness-associated genes and newborn hearing screening were offered concurrently to all newborns in the Chinese Newborn Concurrent Hearing and Genetic Screening cohort. Sequence information of 141,456 individuals was also analyzed from seven ethnic populations from the Genome Aggregation Database for 20 common deafness-related variants. Statistical analysis was performed using R. Results: A total of 3,555,326 Chinese neonates completed the Newborn Concurrent Hearing and Genetic Screening were included for analysis. We reported the distinct landscape of common deafness-associated variants in this large population-based cohort. We found that the carrier frequencies of GJB2, SLC26A4, GJB3, and MT-RNR were 2.53%, 2.05%, 0.37%, and 0.25%, respectively. Furthermore, GJB2 c.235delC was the most common variant with an allele frequency of 0.99% in the Chinese newborn population. We also demonstrated nine East-Asia-enriched variants, one Ashkenazi Jewish-enriched variant, and one European/American-enriched variant for hearing loss. Conclusions: We showed the distinct landscape of common deafness-associated variants in the Chinese newborn population and provided insights into population-specific features in diverse populations. These data can serve as a powerful resource for otolaryngologists and clinical geneticists to inform population-adjusted genetic screening programs for hearing loss.

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“…This will certainly result in early audiologic and etiologic detection of HL with its many benefits to be realized. [155][156][157]…”

Section: Future Perspectivesmentioning

confidence: 99%

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Tayoun

DiStefano³

et al. 2022

Genetics in Medicine

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Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China

Cited by 12 publications

References 34 publications

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit

The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

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