Ear is an important receptor in human body, which plays a role in maintaining auditory sense and body balance. Hearing impairment refers to the organic or functional abnormalities of sound transmission, sensory sounds, and auditory centers at all levels in the auditory system, resulting in varying degrees of hearing loss. According to relevant data, there are nearly 27.8 million people with hearing and language impairments in China, among which newborns are the main group of patients, and at least 20,000 newborns suffer from hearing impairments every year.
Childhood is a critical period for children's hearing and speech development. If it is difficult to receive rich sound signals during this period, it will lead to incomplete speech development and be negative for healthy growth of children.
1. The importance of genetic screening for deafness
At present, hearing loss is a common birth defect, ranking first among the five disabilities (hearing impairment, visual impairment, physical disability, intellectual disability, and mental disability). According to incomplete statistics, there are about 2 to 3 deaf children in every 1,000 newborns in China, and the incidence of hearing loss in newborns is 2 to 3%, which is much higher than the incidence of other diseases in newborns. About 60% of the hearing loss is caused by hereditary deafness genes, and deafness gene mutations are found in 70-80% of hereditary deafness patients.
Therefore, genetic screening for deafness is included in prenatal screening programs. Primary prevention of hereditary deafness can be realized by prenatal screening of deafness genes in pregnant women. Since the high carrier rate(6%) of common deafness gene mutations in Chinese, young couples should screen deafness gene in marriage examination or before childbirth so as to detect drug-induced deafness-sensitive individuals early and those who are both carriers of the same deafness mutation gene couple. Couples with mutation gene carriers can effectively prevent deafness through follow-up guidance and intervention.
2. What is genetic screening for deafness
Genetic testing for deafness is a test of a person's DNA to find out if there is a gene for deafness. If there are members who carry deafness genes in the family, some corresponding measures can be taken to prevent the birth of deaf babies or prevent the occurrence of deafness in newborn babies according to different type of deafness genes.
3. Applicable population for deafness genetic screening
-Pre-pregnancy and early pregnancy couples
-Newborns
-Deaf patients and their family members, cochlear implant surgery patients
-Users of ototoxic drugs (especially aminoglycosides) and those with a history of family drug-induced deafness
4. Solutions
Macro & Micro-Test developed clinical whole exome (Wes-Plus detection). Compared with traditional sequencing, whole exome sequencing significantly reduces the cost while rapidly obtaining genetic information of all exonic regions. Compared with whole genome sequencing, it can shorten the cycle and reduce the amount of data analysis. This method is cost-effective and is commonly used today to reveal the causes of genetic diseases.
Advantages
-Comprehensive detection: One test simultaneously screens 20,000+ human nuclear genes and mitochondrial genomes, involving more than 6,000 diseases in the OMIM database, including SNV, CNV, UPD, dynamic mutations, fusion genes, mitochondrial genome variations, HLA typing and other forms.
-High accuracy: the results are accurate and reliable, and the detection area coverage is over 99.7%
-Convenient: automatic detection and analysis, get reports in 25 days
Post time: Mar-03-2023