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Newborn concurrent hearing and genetic screening for hearing impairment: A systematic review and meta‑analysis
Ke Pan1, Zhirong Shang1, Jialin Liu1
1Department of Clinical Laboratory, Mianyang Maternity and Child Healthcare Hospital, Mianyang, Sichuan 621000, P.R. China.
Insights
Combining newborn hearing and genetic screening identifies more infants with hearing loss risks. This integrated approach offers significant advantages over standalone hearing tests, enabling earlier diagnosis and intervention for affected newborns.
Area of Science:
- Genetics
- Audiology
- Neonatal Care
Background:
- Hearing loss is a prevalent neurosensory disorder impacting child development.
- Early diagnosis and treatment are crucial for mitigating language, social, and cognitive deficits.
- Genetic factors significantly contribute to congenital hearing impairment.
Purpose of the Study:
- To determine the rate of universal newborn hearing screening (UNHS) pass with genetic screening failure.
- To evaluate the benefits of combining newborn hearing and genetic screening.
- To identify specific genetic variants associated with hearing loss in newborns.
Main Methods:
- Systematic review and meta-analysis of cross-sectional studies.
- Searched PubMed, Embase, and Cochrane databases up to September 2023.
- Included nine studies with a total of 377,688 participants.
Main Results:
- Prevalence of UNHS pass and genetic screening failure was 0.31%.
- Specific genetic variant screening failures included GJB2 (0.01%) and SLC26A4 (0.00%).
- Mitochondrial 12S rRNA variant screening failure with UNHS pass was 0.21%.
Conclusions:
- Combined newborn hearing and genetic screening offers advantages over pure hearing screening.
- Identifies newborns with mitochondrial gene mutations sensitive to medications.
- Supports early diagnosis, counseling, and intervention for hearing loss.
Abstract:
Hearing loss is the most prevalent neurosensory disorder in humans, with significant implications for language, social and cognitive development if not diagnosed and treated early. The present systematic review and meta-analysis aimed to determine the rate of hearing screening pass and genetic screening failure [universal newborn hearing screening (UNHS) pass/genetic failure] and to investigate the advantages of combining newborn hearing and genetic screening for newborn hearing impairment. The PubMed, Embase and Cochrane databases were searched from inception to September 2023 to identify studies reporting the combination of neonatal hearing screening with genetic screening. Duplicate literature, unpublished literature, studies with incomplete data, animal experiments, literature reviews and systematic studies were excluded. All the data were processed by STATA15.1 statistical software. A total of nine cross-sectional studies were included in this meta-analysis. The sample sizes ranged from 1,716 to 180,469, and there were a total of 377,688 participants. The pooled results revealed that the prevalence of passing the UNHS while failing genetic screening was 0.31% (95% CI, 0.22-0.41%). The prevalence of UNHS pass and gap junction protein beta 2 and solute carrier family 26 member 4 variant screen failure was 0.01% (95% CI, 0.00-0.02%) and 0.00% (95% CI, 0.00%), respectively, while the prevalence of mitochondrially encoded 12S RRNA variant screening failure and UNHS pass was 0.21% (95% CI, 0.18-0.26%). Combined screening has a significant advantage over pure hearing screening, especially in terms of identifying newborns with mitochondrial gene mutations that render them sensitive to certain medications. In clinical practice, decision-makers can consider practical circumstances and leverage the benefits of combined newborn hearing and genetic screening for early diagnosis, early counseling, and early intervention in patients with hearing loss.
