Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

doi:10.1016/j.gim.2025.101364

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025

Kernohan Kristin D, Gallagher Lauren, Pigeon Marie, Yeh Ed, Lacaria Melanie, Axford Michelle M, MacCormick Johnna, Papaioannou Vicky, Quercia Nada, Rupar Charles, Zimmerman Kim, Weber Stacey, Cushing Sharon L, Chakraborty Pranesh

Abstract excerpt

PURPOSE: Early hearing detection and intervention (EHDI) programs using audiometric screening techniques alone have a limited ability to detect noncongenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors, including congenital cytomegalovirus and 22 common variants in GJB2 and SLC26A4. Here, we describe our experience in screening for...

Read the complete abstract on PubMed

Topics

Humans
Neonatal Screening
Ontario
Infant, Newborn
Hearing Loss

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Connexin 26

Sulfate Transporters

Genetic Testing

Female

Male

Infant

Risk Factors

Genetic Predisposition to Disease

Hearing Tests

Source

Open in PubMed

Identifiers

PMID: 39846246
DOI: 10.1016/j.gim.2025.101364

Genes

GJB2
SLC26A4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.PMID 39846246Read ↗

Analysis of combined screening results of the hearing and deafness genes in 10754 newbornsSemantic proximity Read ↗

Newborn genetic screening for hearing impairment: a population-based longitudinal study.Semantic proximity Read ↗

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

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.Semantic proximity Read ↗

Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.Semantic proximity Read ↗

Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up.Semantic proximity Read ↗

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China.Semantic proximity Read ↗

Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.Semantic proximity Read ↗

Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening.Semantic proximity Read ↗

Newborn Hearing Screening to Diagnosis: A Clinical Study of 15,818 CasesSemantic proximity Read ↗

[Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province].Semantic proximity Read ↗

Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.