Deafness genetic testing– What needs to be done?Deafness genetic testing

The following persons should perform genetic testing for deafness:

1. One of the spouses is a deaf patient, or a congenital deafness in the family.

2. has given birth to a nephew who plans to give birth again.

3. When deaf young people face marriage, consider the risk of childbirth.

4. Deaf patients want to know what is causing them.

5. Normal couples who wish to have a risk assessment for deafness in newborns also request genetic testing.

Deafness is a major public health problem worldwide, with moderate to severe hearing loss7 billion or more, of which deaf patients are nearly 3.6 billion. According to statistics, in China, the hearing-disabled group is about 2780 million, 7 children under the age of 80 million; about 2000 million newborns are born each year, and the deaf patients are about 2.3 million, the incidence rate is about 1%. About half of deaf patients are related to genetic factors. Hereditary deafness includes syndromic deafness and non-syndromic deafness. Non-syndromic is mostly moderate to severe, even very severe sensorineural hearing loss. Deafness is the only symptom, accounting for 70% of hereditary deafness. In order to interfere with this disease, medical personnel use genetic testing technology to screen patients with delayed hereditary deafness, and provide guidance and intervention to improve the quality of life in the later period. Peripheral blood samples were collected from healthy children. The four-primer amplification mutant PCR (ARMA-PCR) method was used to detect the high mutation frequency deafness gene locus in Chinese population, and the genetic counseling, prognosis and intervention guidance were given according to the test results.

It must be emphasized that the current detection of deafness genes is still in its infancy, with many influencing factors and limited clinical significance. One or more abnormalities in the detection value of a project may not lead to affirmative conclusions about the etiology of deafness. Moreover, the detection of deafness gene only indicates the possibility of congenital or hereditary deafness in the etiology of deafness, and the diagnosis of sensorineural hearing loss in the majority of deafness causes only the exclusion diagnosis. for your reference.

Deaf gene detection screening and prenatal diagnosis can produce huge economic and social benefits, and truly achieve the goal of improving population quality and eugenics. Deafness gene detection has two major implications for humans: First, prevention of deafness or delayed hearing loss through timely treatment. Second, the guidance and intervention of the genetic diagnosis technology on marriage.

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