Objective

2

To investigate the clinical significance of combined screening of hearing and deafness genes in 4284 neonates in Suzhou area.

Methods

2

A total of 4284 neonates born in Suzhou Science and Technology City Hospital from January 2020 to May 2022 were screened for hearing

and heel blood was collected for sequencing of 21 loci of 4 common deafness genes

the screening results were statistically analyzed.

Results

2

Among 4284 neonates

3945 passed the hearing screening

with a passing rate of 92.09% (3945/4284). Among the 339 neonates who failed the initial screening

331 completed the re-screening and 265 passed the re-screening

with a passing rate of 80.06% (265/331). A total of 4284 neonates were screened for deafness gene

and 85 of them were found to be carrying deafness gene mutation

with a carrying rate of 1.98% (85/4284). The carrying rates of GJB2

SLC26A4

GJB3 and MT-RNR1 were 0.68% (29/4284)

0.54% (23/4284)

0.30% (13/4284) and 0.47% (20/4284). Among 4210 neonates who passed the hearing screening

83 were deafness gene mutation carriers

with a carrying rate of 1.97% (83/4210). Among the 66 neonates who did not pass the hearing screening

there were 2 deafness gene mutation carriers (3.03%

2/66). Among the newborns with deafness gene mutation

hearing loss was confirmed in 2 cases

with a diagnosis rate of 2.35% (2/85). Among the newborns without the deafness gene mutation

11 cases were confirmed to have hearing loss

with a diagnosis rate of 0.26% (11/4199).

Conclusion

2

According to the research data

the combined hearing and deafness gene screening can effectively make up for the deficiency of simple hearing screening

it is of great clinical and practical significance to effectively improve the level of prevention and treatment of newborn hearing defects and expand the scope of prevention and intervention for hearing-impaired children by gradually establishing and improving the joint screening system of hearing and deafness genes.