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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study
Cheng Wen1,2,3, Xiaozhe Yang1,2,3, Xiaohua Cheng1,2,3
1Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Bioscience Trends
|April 16, 2023
Summary
A new genetic screening chip for 15 deafness variants significantly improved early detection in newborns. This enhanced approach, particularly for the SLC26A4 gene, aids in preventing congenital deafness and ototoxicity.
Area of Science:
- Genetics
- Audiology
- Public Health
Background:
- Congenital deafness requires comprehensive management and ototoxicity prevention.
- The SLC26A4 gene is clinically significant due to its association with late-onset hearing loss.
- Early detection of deafness-causing mutations in newborns is crucial.
Purpose of the Study:
- To evaluate the effectiveness of an expanded genetic screening chip (15 variants, 4 genes) for early detection of deafness in newborns.
- To analyze trends in concurrent hearing and genetic screening in Beijing from 2019-2020.
- To assess the advantage of the updated screening chip, especially for SLC26A4 gene mutations.
Main Methods:
- A cohort study of 76,460 newborns undergoing concurrent hearing and genetic screening.
- Hearing screening utilized transiently evoked otoacoustic emissions (TEOAEs), distortion product otoacoustic emissions (DPOAE), or automated auditory brainstem response (AABR).
- Genetic screening employed a DNA microarray platform for 15 variants across GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3 genes.
Main Results:
- The referral rate for hearing screening decreased from 3.60% to 3.23%, indicating improved accuracy and effective prevention policies.
- Genetic screening positivity remained stable (around 4.9%), with GJB2 and SLC26A4 variants being most frequent.
- The 15-variant chip identified more newborns with SLC26A4 mutations, including those who initially passed hearing screening, highlighting its superior early detection capability.
Conclusions:
- The expanded 15-variant genetic screening chip demonstrates superior performance in the early identification of newborns with deafness-causing mutations, particularly in the SLC26A4 gene.
- Concurrent hearing and genetic screening, enhanced by the updated chip, significantly contributes to the prevention of congenital deafness and ototoxicity.
- These findings have substantial clinical implications for newborn screening programs and genetic counseling.
