The Enforcement And Discussion Of Strategy Of Newborn Deafness Pathogenic Screening In Shenyang, Liaoning Province Of China

ObjectiveTo discuss and analyze the feasibility and strategy for perform the newborn gene screening in the process of newborn hearing screening in order to supply the defects or limitation in the hearing screening.MethodsFour hundred seventy newborn babies from Feb. 2008 to Oct 2008 accepted the simultaneous hearing and gene screening. Otoacoustic emission (OAE) was used for the first step hearing screening and OAE combined with auto auditory brainstem response (AABR) detection for the second step screening. Newborn genetic disease screening cards (the utility Model Patent-200720103139.4) were used for collecting the blood spot from the calcar pedis within the moment of newborn. The cards can be directly performed the polymerase chain reaction (PCR) for screening the mitochondrial 12SrRNA 1555G and GJB2 as well as SLC26A4 genes mutations. The restriction enzyme Alw26I was used to recognize the point mutation of 12SrRNA A1555G. The samples with the possible 12SrRNA A1555G mutation were then sequenced to verify. The PCR products from the GJB2 coding region and SLC26A4 IVS7-2A>G hot spot region were sequenced directly. The software of DNAStar was used to analysis the sequence.ResultsFour hundred seventy newborn babies are from Shengjing hospital of China Medical University School. The first step of hearing screening showed "refer" on the left ear of nineteen babies and on the right ear of sixteen babies. Ten showed "refer" on bilateral with the the total of babies 45. After 42 days, they accepted the second step for hearing screening. 19 of the 16 were showed "pass" with OAE and AABR. The newborn gene screening showed three of the 470 babies had the positive response on the A1555G restriction enzyme assay. None was proved to be the 12SrRNA A1555G mutation but all were showed "pass"in the first step of hearing screening. For the SLC26A4 gene screening, only one with the heterozygote of IVS7-2A>G mutation was found. For the GJB2 gene screening, four were 235delC heterozygote carriers, but three of them were showed "pass"in the first step of hearing screening. All the gene screening found 23 newborn babies of the 460 harbored the changes in the three genes.ConclusionConclusions It may be one of the powerful strategy for adding the concept of newborn gene screening into the hearing screening for the purpose of early diagnosis and discovery the prelingual or late-onset or the high risk as well as the pathogenic carriers. On the basis of the research progress, it is necessary to develop the national newborn gene screening into the process of newborn hearing screening.