Hearing Loss Affects Almost All Families Congenital Hearing Loss Is The Most Common Birth Defect
Universal Newborn Hearing Screening (UNHS) is mandatory in the US and many other countries.
Hearing Loss in Babies
Worldwide, 1-2 per 1000 babies are born deaf (CDC Data and Statistics). Based on the recent CDC study from 50 states spanning 2015-2017, hearing loss is the most common congenital condition present at birth, more than the most common newborn dry blood spot (DBS) screened conditions (primary Congenital Hypothyroidism, Sickle Cell Disease and Cystic Fibrosis) and critical congenital heart defects (CHD) combined.
Congenital Hearing Loss is More Frequent
Than All Other Common Congenital Disorders Combined
Hearing Loss
Primary Congenital Hypothyroidism
Sickle Cell Disease (including SS, S b-thalassemia, SC)
Cystic Fibrosis
Critical Congenital Heart Defects
- Up to 14.9% of the population between 3-19 years old have some degrees of hearing loss. In the older population, more than 50% of the people are affected.
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- Genetic mutations and congenital CMV infection account for 80-90% of all congenital hearing loss cases
Genetic Causes and cCMV Infection Account for ~90% of Congenital Hearing Loss
- 1-2% of infants fail their initial mandatory hearing screen, or a 80-90% of false positive rate.
- Hearing loss is a complex condition associated with a wide array of etiologies. Remarkably, up to 60% of congenital hearing loss and early-onset hearing loss is cuased by genetic factors and about 25-30% are due to congenital CMV (cCMV) infection (PMID: 24651602).
- Mutations in >200 genes can cause hearing loss alone (non-syndromic hearing loss) or in a syndromic form.
- A sensitive test combining deafness gene testing with cCMV detection in newborns who failed universal newborn hearing screening can precisely diagnose the cause for up to 90% of the congenital hearing loss.
- The identification of the genetic cause of hearing loss enables the best intervention and treatment plan.
- cCMV infection is largely asymptomatic at birth (e.g. without purpura/petechiae, jaundice, hepatosplenomegaly, microcephaly, elevated liver enzymes, bilirubinemia, hemolytic anemia or thrombocytopenia). Hearing loss associated with asymptomatic CMV infection often first appears unilaterally and in a milder form that would progress bilaterally and more severely. It is important to screen infants who failed newborn hearing screening (NBHS) to identify hearing loss associated with asymptomatic cCMV, preferably within the first 3 weeks of life.
- American College of Medical Genetics and Genomics (ACMG) established guideline for the clinical evaluation and etiologic diagnosis of hearing loss and practice approach to clinical and diagnostic evaluation for hearing loss, including genetics counseling, differentiation non-syndromic from syndromic hearing loss, and cCMV detection and hearing loss gene testing for non-syndromic hearing loss and syndromic hearing loss gene panel testing for syndromic hearing loss.
GxVISION® Congenital Hearing Loss Testing for Molecular Diagnosis of Deafness and Congenital Hearing Loss
Discover Otogenetics’ leading-edge GxVISION® Hearing Loss Test, offering the most comprehensive coverage of deafness genes available in the US. Endorsed by The American College of Medical Genetics and Genomics (ACMG) and ClinGen Expert Panels (PMID: 30894701), our test encompasses all essential deafness genes recommended for thorough evaluation.
Our GxVISION® Congenital Hearing Loss test goes beyond standard genetic screening by also detecting congenital CMV (cCMV) with unparalleled sensitivity from the same swab specimen used in Universal Newborn Hearing Screening (UNHS) follow-ups. This innovation aligns with the proposal from the Newborn Hearing Screening Working Group (PMID: 31171844) to integrate genetic and cCMV screening into UNHS, enhancing early detection and intervention for newborns with hearing impairments.
Furthermore, hearing loss can manifest at any stage of life. Our deafness gene test is invaluable for diagnosing genetic causes of hearing loss in patients of all ages, ensuring precise and timely clinical insights. Trust Otogenetics for cutting-edge solutions in hearing loss diagnostics and genetic screening.
245 Hearing Loss Genes Sampled | cCMV Detection at a LOD of 125 copies/ml GxVISION®Congenital Hearing Loss testing analyzes a comprehensive panel of deafness genes and detects CMV from the same specimen
Discover who benefits from the GxVISION® Congenital Hearing Loss Test:
- For newborns who did not pass their initial hearing screening, immediate testing with the cCMV detection option is recommended. This is crucial because most genetic hearing loss follows an autosomal recessive pattern and may not show a clear family history. Surprisingly, 95% of newborns identified with hearing loss through UNHS are born to parents with normal hearing, highlighting the importance of genetic testing. For accurate results, the cCMV option is best within the first 3 weeks of life, as CMV detection may not reflect congenital infection in later stages.
- The option to test for deafness genes without cCMV detection is ideal for individuals of any age suspected of genetic hearing loss. Please provide family and personal medical histories for best results.
- Otogenetics supports clinical research into gene frequencies related to hearing loss. For instance, we’ve investigated the frequency of Usher gene mutations in specific populations.
- Trust GxVISION® for advanced genetic insights into congenital hearing loss.
Option To Test For Novel Deafness Genes
The genetic causes for some Deafness patients remain unknown. Novel genetic causes for deafness may be identified by a more comprehensive genetic test. ACMG guideline recommends exome sequencing for deafness patients who are negative by cCMV and comprehensive deafness gene panel testing.
Here is a publication that applied Otogenetics exome sequencing to determine the genetic causes of hearing loss.