| Objective The projects of newborn hearing and deafness gene screening were undertaken by the continuing improving the universal newborn hearing screening projects of Gansu Province, to make this screening projects conducted large-scale and formally in Gansu province, and to promote the deafness gene screening in the hospital which did the work well at the same time. The final goal is to meet anti-hearing loss, treat deafness and reduce the hearing loss occurring in the region.Methods Two thousand seven hundred and fifty newborn babies from May, 2007 to May, 2008 accepted universal newborn hearing screening by every hospital staff in Gansu around, and to take deafness gene screening in two hospitals simultaneously. To use the otoacoustic emission screening (TEOAE) in the initial screening and the again screening. And to use the auditory brainstem response (ABR) in the diagnostic screening. The initial Screening is scheduled for two days after birth to the day they discharged, The again screening was within 42 days after birth, the diagnostic screening for the three months after birth. For parts of the newborn babies in two provincial hospitals in Lanzhou, to implement newborn hearing loss over the same period of the deafness gene screening, screening with the sample card concluded with the information of hearing screening to collect umbilical cord blood of the babies at birth. This genetic screening sample card can be used directly for mitochondrial 12SrRNA, GJB2 gene, SLC26A4 gene polymerase chain reaction amplification (PCR). For the SLC26A4 gene IVS7-2A> G mutation region to make direct sequencing of PCR products, to use APa I restriction endonuclease for screening 235delC GJB2 gene mutation, for all PCR-positive cases sequencing product authentication, and to use Alw26 I restriction endonuclease screening mitochondrial 12SrRNA A1555G point mutation , for all PCR-positive cases sequencing product authentication . Finally, to use the DNA Star software to analyze the sequencing results. Results There are 3741 newborn babies in five hospitals in Gansu province since May, 2007 to May, 2008. 2750 newborn babies accepted universal newborn hearing screening, and the initial screening rates were 73.5%(2750/3741). To consider the five hospitals' screening data and to calculate their respective initial screening rates and again screening rates. The initial screening rates and again screening rates of the first group were: 81.5% (545/669) ,92.6% (75/81) ;The initial screening rates and again screening rates of the second group were: 95% (307/323) ,34.9% (30/86) ;The initial screening rates and again screening rates of the third group were: 94.8% (1043/1100) ,89.7% (105/117) ;The initial screening rates and again screening rates of the forth group were: 37.1% (311/839) ,63.8% (30/47) ;The initial screening rates and again screening rates of the fifth group were: 67.2% (544/810) ,52.7% (50/92) . To make the deafness gene screening in two hospitals which did the work better. There were 32 cases who did not pass the deafness gene screening, of which 2 cases were positive mtDNAA1555G mutation, GJB2 gene 235delC heterozygous mutations in 20 cases, SLC26A4 gene IVS7-2A > G heterozygous mutation in 10 cases. Deafness gene positive rate was 26‰(32/1234).Conclusion To analyze the results, the overall initial screening rate was 73.5%, which was lower than the goal 95%. The initial screening rates should be improved through a variety of advocacy work and coordination in the future. The initial screening rates of the first three groups are more than 80% , and the initial screening rate should be continue to maintain and future improved. The remaining two groups' initial screening rate of the data was relatively low, for the screening was in the beginning stage, and the initial screening rate will be increased significantly when the work carried out step by step. All the hospitals' again screening rate appears relatively low level, and the reasons may be: first, the accuracy of screening in the beginning stage can not be guaranteed. Second, the parents of the newborns had not enough attention to the screening work. Third, the follow-up work did not well. For the deafness gene screening: mtDNAA1555G gene mutation showed a higher positive rate. As the regional universal newborn hearing screening work carrying out, the newborn hearing screening should be understood well, it also makes it clear that the future direction and aware of the significance of the deaf gene screening. |
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