The Clinical Practice On The Concurrent Newborn Hearing And Gene Screening

In 1964, the program of newborn hearing screening was opened first, which hearing was tested by behavior and observation. Since that, the work was developed, strategies were updated, technology was improved constantly, and the deaf epidemiological date was obtained. At least one had hearing impairment in one thousand babies, and the incidence of deafness grown with age. Above all, the prevention and control of deafness was important and anxious. In 1990's, a great revolution of newborn hearing screening had been carried out in the world, and the scholars in our contry researched in the work at the early 90's and followed closely after the mainstream. The work was supported greatly in our country by government. In 2000, the government approved the meaning and importance of the mewborn hearing screening by the PCR Maternal and Child Health Law. In december 2002, the Ministry of health established the "improve the population quality, reduce birth defects and disability in China (2002-2010)" and the newborn hearing screening was done in some provinces, regions and countries. In June 2009, the country implemented intinitally "the Mesures for the administration of the newborn disease screening", which was awarded by Ministry of health, and the work was carried out rapidly in the country. The newborn hearing screening in china have carried on during the past 10 years, at present, how is the current status? How is the implement? The study will be operated in three parts:Part one:An Evaluation of the articles in Newborn Hearing Screening in ChinaBy CBMdisc databases, PUBMED and Interneter, the articles on newborn hearing screening published were searched and collected during 1998-2008. The study investigate the articles on the newborn hearing screening in china during the nearby 10 years and reveal the domestic epidemiological data and characteristics of newborn hearing screening, and to identify the some deficiencies in the newborn hearing screening jobs by Meta analysis method, which based on increasing sample size and expanding the scope of screening. Though retrospective analysis,129 articles were found, wich cluded 705 394 newborns from 120 medical institutiongs,71 districts,26 provinces in all country. The incidence of hearing loss in normal newborns was 0.06～0.57%, mostly in 0.1～0.4%, and the average incidence was 0.2%. The incidence in NICU wave at 0.37～7.35%, the average incidence was 2.29%, slightly higher than the western countries such as America and the Britain. By Meta-analysis, the screening result were significant(P<0.05) between the normal newborns babies and the NICU babies; the impact on hearing loss among risk factors were significant(P<0.05), in these, the multiple comparisons of rate showe that it has significant(P<0.05) between "the deafness family history and facial deformity" and "others", between "premature group" and "asphyxia"; the comparisons of passing rate in different times shows P<0.05; the deafness incidence were not significant(P>0.05) between male and female.112 of 129 articles included 669 230 cases reports that OAE and AABR were used in the newborn hearing screening,15 of 112 also used other methods to futher validate the result.Only 61 of 129 articles reports the fellow-up after hearing screening, the rate of lost was 3.95%(10 714/271 069). Conclusions: The hearing screening determine the best screening time of 72th after birth by Meta-analysis, and define the best means of OAE and AABR in the hearing screening; the deafness incidence in NICU higher that of normal babies; the deafness incidence in our country higher that in western country. But the newborn hearing screening had some deficiencies, such as lack of unified screening methods and procedures, the insufficient sample size, followed up rates low enough. So we need develop a national uniform standards and procedures of the system; Newborn hearing screening in China must the tireless efforts of health workers, close co-ordination of parents and the whole society and government.Part two:The follow-up study and the result analysis about newborns with hearing concurrent gene screeningAt present, the study finds there are some babies would had hearing loss after the birth, who past the hearing screening at birth, which did not well resolved. In 2006, Cynthia C ever mentioned the some babies would been found early the hearing loss by gene inspection. In december the same year, the PLA general hospital firstly proposed the new ideas of the deaf gene screening into hearing screening, and the projet was carried out gradually in all country in March 2007. This study finished the newborn hearing and gene(A1555G,GJB2,SLC26A4) screening to 2716 newborns babies, determine the important fellowed objects and conduct long follow-up to determine the feasibility and reliability of the strategy. The research found 5 cases were diagnosed the sensorineural hearing impairment, who past the three deaf genes screening; 2 cases had mtDNA A1555G mutation, 21 cases carried the alleles 235delC mutation in GJB2, and 23 cases carried the alleles c.919-2A>G mutation in SLC26A4, who past the hearing screening. At last, 289 cases were defined the important fellow-up subjects. In 289 subjects,225 accepted the follow-up, and the follow-up rate was 77.85%(225/289).247 in 289 subjects did not pass the hearing screening or did not operate the screening.186 of those subjects accepted the follow-up, with a rate of 75.30%(186/247), and 61 subjects lost, with a rate of 24.70%(61/247). At last,5 subjects were identified as sensorineural hearing impairment, with a rate of 2.69%(5/186). In 46 subjects with abnormal genetic screening results,43 subjects accepted the follow-up, with a rate of 93.48%(43/46), and the rate of lost was 6.52%(3/46). The follow-up rate of the genetic screening was higher than that with the hearing screening, and the statistics analysis showed P value<0.05. Conclusions:The study revealed the importance of combined screening by genetic and audiological examinations. The follow-up rate and intervened subjects were enlarged by the association of the genetic screening than the simple hearing screening, and the parents even pay more attention and matched better.Part three:The newborn hearing and gene screening Network systemThe follow-up after the newborn hearing screening was a major work, borth the developing countries and developed countries. The asociation of the hearing and gene screening enhance the rate of detection high-risk neonatal and deaf, increase the important fellow-up targe, expend the scope of prevention and intervention. How the program implement fast, efficiently, and formate a system of large scope, order and different levers? This study is to establish newborn hearing and gene screening network, complete the detail information about the newborns babies by internet working platform, and conservate and manage the related information of hearing screening, gene screening, diagnosis and intervention, and fellow up by inputting the parent phone numbers to automatically sent and receive the message in regular intervals, and analyzed scientifically the consequence. Meanwhile, the co-operation may log on the system by account and password to check the consequence of the screening, back the difficult problems to higher units, help and guident the low units. At last, a large orderly management-fellow up network system is built. Consult:The system will save the all newborn babies information in a long time, and the information may be search anywhere, which can be automatically converted into EXCLE to analysis by statistical software. The system will achievement the interaction between upper and lower unit, unit and patient. Conclusion:The management and fellow-up system of newborns hearing and gene screening meet the Screening, Diagnosis, Intervation, Rehibilitation, Fellow-up and quality control. Though the intelligent management to hearing screening database, the system not only resolve the dificullt problem of fellow-up, but also save a lot of clinic and genetic data to research in the future, and indeed promote a great step forward in the deafness prevention and control.