Regarding genetic screening for hereditary deafness in newborns, the top ten questions you are most concerned about are here.

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01. Why is genetic screening for hereditary deafness needed in newborns?
Our country has the largest number of hearing-impaired people in the world. The number of hearing-impaired people is as high as 27.8 million. The number of people carrying deafness gene mutations reaches 70-80 million. About 30,000 deaf children are born every year, and about 5% have normal hearing. The couple carries a known deafness gene.

Through genetic screening, babies with known deafness genes can be detected early and medical intervention can be carried out to avoid hearing disability in babies.

02. Which genes should be checked for genetic screening for hereditary deafness in newborns?
Newborn hereditary deafness gene screening includes four deafness genes GJB2 (congenital deafness), GJB3 (acquired high-frequency deafness), SLC26A4 (large vestibular aqueduct syndrome), and MT-RNR1 (drug-induced deafness). 20 mutation sites.

03. How much does it cost to screen for genetic screening of newborns for hereditary deafness? How to collect blood? How many days will it take for the results to be available?
The current testing fee is 300 yuan/person; 1-2 days after the newborn is born, just collect 2 drops of heel blood (the heel blood will be collected at the same time as the newborn genetic metabolic disease screening); the screening report is issued The lead time is 10-15 working days.

04. There are no deaf parents in three generations. Why is the child found to be a carrier of the hereditary deafness gene?
Only parents with single-gene recessive diseases The genetic defects of both parties will only show up when they overlap.

05. Is congenital deafness hereditary?
Congenital deafness is divided into two categories: hereditary and non-hereditary. Hereditary deafness will definitely be passed on to the next generation. , but not every individual in the next generation will develop the disease.

If parents have hereditary deafness, they may pass it on to their children. But not every individual in the next generation will develop the disease. Even if the parents have hereditary deafness, the child may have completely normal hearing, may develop hearing impairment, or may become a carrier of the deafness gene, hiding the gene and passing it on to the next generation. This is why couples with normal hearing can give birth to a child. Deaf child.

06. Is genetic testing required for drug-induced deafness?
There are many patients whose drug-induced deafness is “deafened by one shot”, which means that they They are more sensitive to drug toxicity than the average person because they may carry a site mutation in the MT-RNR1 gene that causes drug-induced deafness. This gene can be passed on to the next generation through maternal inheritance, and it is estimated that there are 4.2 million such carriers in our country. Through genetic testing, the occurrence of hearing disability in them and their descendants can be effectively prevented.

07. If the screening result is normal, will you not get hereditary deafness? Do you need to do it again after doing it once?
Currently hereditary deafnessBecause screening only covers a part of the genes that cause hereditary deafness, scientific research at this stage is still unable to clarify the relationship between all hereditary deafness and genes.
The earlier the screening, the better, and it can be determined as early as possible whether there are mutation sites related to deafness genes. The same type of genetic test for hereditary deafness only needs to be done once for a person, and there is no need to do it again in the future.

08. Is it possible for people with normal hearing to have children with hereditary deafness?
The carrier rate of common deafness gene mutations in the Chinese population is about 5%. Parents with normal hearing If you carry the hereditary deafness gene, you will also be at risk of having a deaf child. In fact, most of the more than 30,000 deaf children born each year have parents with normal hearing.

09. After newborns have undergone ordinary hearing screening, do they still need to undergo genetic screening for hereditary deafness?
General hearing screening can detect some Congenital deafness. Genetic screening for newborn deafness is complementary and can screen out some congenital deafness, acquired deafness, drug-induced deafness, etc.

10. If the baby has normal hearing when he is born, will he not experience hearing loss when he grows up?

If the baby carries the drug-induced deafness gene (ie MT -RNR1) mutation, hearing is normal at birth. As the baby grows, taking aminoglycosides (such as streptomycin, gentamicin) may cause deafness; or it may carry a "slap" deafness gene (i.e. SLC26A4) mutation, such individuals may be deafened as long as they are hit on the head (including being slapped).

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