Genetic factors of hearing impairment in children-2


Hearing impairment genetic counseling is the interpretation of the hearing impairment genetic test results by the consulting physician (the patient with the genetic disease or his or her family members), and discusses the occurrence, recurrence risk, diagnosis and prevention of hereditary hearing impairment in the family. Questions, a series of conversations and discussions, so that patients or their families have a comprehensive understanding of hereditary hearing impairment and choose the most appropriate coping decisions. If the hearing impairment gene test results confirm that the hearing impairment is caused by the GJB2 or SLC26A4 gene mutation, for couples with fertility requirements, relevant tests can be performed after 10 weeks of pregnancy to determine whether the fetus has inherited the hearing impairment mutation gene, so that corresponding measures can be taken , to prevent hearing-impaired children from being born again.


        Because the causes of deafness are very complex, genetic testing technology cannot find the cause for all hearing impaired patients, and about 50% of the patients obtained negative results after genetic testing. This result suggests two possibilities:

① The patient is not a hereditary hearing impairment, but a hearing impairment caused by environmental factors;

② The patient is a hereditary hearing impairment, but the hearing impairment gene is very rare and is not within the scope of routine detection genes (it cannot be detected due to technical limitations or cannot be detected due to various reasons) or due to currently unknown hearing impairment genes Hearing impairment caused by mutation, with the development of science and the improvement of detection level, there may be further discoveries.

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