G heterozygote carriers.The carrying rate of deafness gene was 26‰(32/1234).In the 32 carriers,there are 5 babies showed 'refer' at the first step of hearing screening.In the 1234 babies,112 babies showed 'refer' at the first step of hearing screening.CONCLUSION Deafness gene screening can make up for the deficiencies of the universal newborn hearing screening,and should be used in this kind screening more widely.

Objective:To explore the application effect of "blended learning + flipped classroom" in public elective courses for medical students, and provide reference for the blended construction of related courses.Methods:Totally 229 medical students were selected as research participants, who were taught by "blended learning + flipped classroom". After the courses, the curriculum evaluation questionnaires and focus group interview were used to collect students' evaluation of this course. SPSS 22.0 statistical software was used to make descriptive statistics on the questionnaire data.Results:Totally 98.5% students preferred "blended learning + flipped classroom" teaching mode, and more than 93% students thought this teaching method could improve their learning interest, empathy, understanding and application of knowledge. The results of the qualitative survey extracted two themes, namely "improving learning autonomy" and "expanding comprehensive quality".Conclusion:Perfecting the "blended learning + flipped classroom" teaching mode of the medical public elective courses plays a positive role in improving the learning autonomy and comprehensive quality of medical students and optimizing the learning effect.

Objective:To study the role of neonatal panel detection based on next generation sequencing (NGS) combined with multiplex ligation-dependent probe amplification (MLPA) in the etiological differentiation of neonatal hypotonia.Methods:The clinical characteristics and gene test results of newborns with hypotonia as the main clinical manifestation treated at the Department of Neonatology of Jiangxi Provincial Children's Hospital from March 2017 to March 2021 were retrospectively analyzed.Results:A total of 23 children with hypotonia and feeding difficulties diagnosed by gene tests were included. 17 cases (73.9%) had obvious abnormal appearance, and 11 cases (47.8%) had congenital heart disease (atrial septal defect and/or patent ductus arteriosus). Among the 23 infants, 21 were detected by panel gene, 10 by methylation specific MLPA (MS-MLPA) and 4 by MLPA (SMN1 / SMN2). 14 cases of Prader-Willi syndrome, 4 cases of spinal muscular atrophy, 3 cases of congenital myopathy and 2 cases of Schaaf-Yang syndrome were diagnosed. 11 cases died (47.8%), 9 cases had growth retardation (39.1%), 2 cases had normal growth and development (8.7%), and 1 case survived without detailed information (4.3%). Newborns with unknown etiology and low muscle tone are often complicated with abnormal appearance and congenital heart disease. Neonatal panel combined with MLPA is helpful for accurate diagnosis.Conclusions:The detection of neonatal panel combined with MLPA is cheap, and can provide accurate diagnosis for most newborns with unexplained hypotonia in a short diagnosis cycle, which is conducive to the early formulation of clinical decision-making, and guide the treatment, follow-up and genetic consultation of children.