ABSTRACT
OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.
ABSTRACT
OBJECTIVE@#Analyze the ABR testing results of local infants who failed the hearing screening and summarize its characteristics.@*METHOD@#Carry on the first ABR test to 140 infants who failed the newborns' hearing screening when they are about 3-month age, the unusualities carry on the second ABR test at about 6-month age, and carry on the statistical analysis.@*RESULT@#One hundred and forty infants with the first ABR diagnosis, 65 infants are normal, accounting for 46.43%; 75 infants have single or binaural ear hearing disorder, accounting for 53.57%, single ear 17.14%, binaural ear 36.43%, of which mild hearing disorder takes most, accounting for 27.14%, the profound hearing loss is also not extremely rare, accounting for 14.29%. Between male and female hearing disorder disease incidence rate difference is not remarkable statistics significance (P > 0.05). Between the number of high-risk in the hearing injury and non-high-risk after the comparison difference is not remarkable statistical significance (P > 0.05). With the population of above severe loss in hearing high-risk has the remarkable statistical significance with the non-high-risk comparison difference (P < 0.05). The second ABR subsequently visit 38 infants, 8 infants normal, total normal rate 52.14% (73/140), 16 infants mild hearing disorder 10 infants transfer normal either the change for the better, 6 infants do not have the change or the aggravation, 3 infants moderate hearing disorder 1 infant changes for the better, 2 infants do not have the change, 9 infants severe hearing disorder 3 infants have the change for the better, 3 infants do not have the change, 3 infants aggravate, 10 infants profound hearing disorder 9 infants do not have the change or the aggravation extremely, 1 example brain paralysis profound hearing disorder extension converges normally extremely. The non-high-risk whose hearing changes for the better is obviously higher than high-risk (P < 0.05).@*CONCLUSION@#Should develop newborns' hearing screening comprehensively with key attention to high-risk loss of hearing. The severe hearing disorder has the variability, and so on exceptional child hearing situation appraisal should be prudent to the brain paralysis; should establish perfect tracing, revisiting and managing system as soon as possible.