Genetic diagnosis of deafness helps to understand the type and composition of genetic mutations carried by patients and their families, and has special significance for the following three groups of people:
The first category is hereditary deafness patients or their relatives who have a family history of deafness and face the choice of marriage and childbirth.
We recommend that the above population should consider a common deafness gene mutation test before giving birth or getting married, so as to reduce the possibility of hereditary deafness in the offspring.Once the test results prove that both parties carry genetic mutations that can lead to hereditary deafness, prenatal diagnosis is required, and the probability of birth defects can be reduced through the method of fetal selection.In this sense, genetic diagnosis of deafness can effectively advance the time of prevention and treatment of deafness to prenatal or even before marriage or love, which is expected to reduce the pain and burden caused by hereditary deafness for society, families and individuals.
The second category is newborns with a family history of hereditary deafness.
Although some newborn hearing screening can detect possible hearing problems in newborn babies, in a considerable proportion of patients with hereditary deafness, hearing loss may be delayed, progressive or sudden development, these hearing impairments It is not easy to be found before the child’s speech period. If neglected, it may cause developmental delays or obstacles to the child’s speech function. In severe cases, it will affect the child’s future learning and expression.Genetic diagnosis can be used as an effective aid to hearing screening to help diagnose or predict these potential early hearing impairments, so as to ensure that these newborns are deaf but not dumb.
The third category is patients with drug-induced deafness who carry the A1555G mutation of the mitochondrial gene and are sensitive to aminoglycoside antibiotics.
If the mother or maternal family members have a medical history of drug-induced deafness, it is recommended that such people be tested for mitochondrial gene mutations. If mutations that can cause deafness are found, the use of a series of aminoglycoside antibiotics that may be related to drug-induced deafness should be avoided as much as possible .
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