Hearing impairment is one of the common birth defects of humans. There are as many as 27.8 million people with hearing impairment in my country, including about 137,000 hearing-impaired children aged 0-6, and 20,000 to 30,000 newborns with hearing impairment each year. The incidence of congenital deafness in the neonatal period is 1‰~1.86‰. Deafness is caused by genetic factors and/or environmental factors. The cause of deafness is complex, and more than 60% is related to genetic factors. There are many genes related to hereditary deafness. The carrier rate of deafness gene mutation in the Chinese population is about 6.3%, of which about 70% of the mutations come from four hotspot genes such as GJB2, SLC26A4, mitochondrial DNA 12S rRNA and GJB3.。

Screening for genetic mutations of hereditary deafness for couples before or during pregnancy, and prenatal diagnosis for pregnant women can prevent the birth of deaf children; screening for genetic mutations of hereditary deafness for newborns, early diagnosis and early treatment can effectively intervene in the occurrence of deaf-muteness. Most importantly, gene mutation screening can identify carriers of drug-induced deafness genes and late-onset deafness genes that cannot be detected by conventional physical hearing screening, and through health guidance, drug-induced deafness can be avoided or the occurrence of late-onset deafness can be slowed down.