Analysis Of Neonatal Disease Screening Results And Countermeasures In Yanbian Area From 2013 To 2017

ObjectiveBirth defects are the main cause of intrauterine stillbirth,early abortion,perinatal infant death,congenital limb and intellectual disability,which seriously affect children’s survival and quality of life and cause serious social and economic burdens.Birth defects have become the main public health problem of group health level and population quality.Timely and appropriate intervention can significantly control the incidence of birth defects.Birth defects seriously affect the increase of life expectancy and the further decline of infant mortality in China.China is a populous country and a high-incidence area for birth defects in developing countries.The current birth defect rate is about 5.6%,which is about 1%higher than that in high-income countries.The World Health Organization divides birth defect prevention measures into three levels,with primary and secondary prevention targeting unborn fetuses and tertiary treatments aim at the remedial treatment of birth defects.Primary prevention:premarital checkups,pre-pregnancy and pregnancy care,genetic testing to reduce birth defects.Secondary prevention:prenatal screening and diagnosis timely detect the early intrauterine fetal defects and stop the pregnancy by manual method.Tertiary prevention:after early screening and diagnosis for newborns born,by which to give intervention and treatment to prevent physical and intellectual disabilities.Neonatal diseases screening is an important measure to reduce birth defects.It is a screening for congenital genetic metabolic diseases that threaten children’s short-term and long-term physical and mental health in the neonatal period,and provides special inspection for early diagnosis and intervention.It is widely carried out in most parts of the country.The National Women and Children Division has set up a special fund to screen phenylketonuria,congenital hypothyroidism and hearing screening.The Yanbian Maternal and Child Health Hospital was awarded the National Neonatal Disease Screening Center in 2007 to screen for phenylketonuria(PKU)and congenital hypothyroidism(CH).In 2009,with the assistance of the Jilin Province Neonatal Disease Screening Center,a neonatal disease screening information platform was established to cover the relevant data,query data and detailed follow-up records of neonatal disease screening in Yanbian area.It is convenient to study screening for phenylketonuria(PKU),hyperphenylalaninemia(HPA),and congenital hypothyroidism(CH)To summarize and analyze the screening,treatment and follow-up of phenylketonuria(PKU),hyperphenylalaninemia(HPA)and congenital hypothyroidism(CH)in the Yanbian Neonatal Disease Screening Center from 2013 to 2017.Analyze and explore the difference between the incidence rate in Yanbian area and the incidence rate in other parts of the country,and studying related factors,so as to early targeted interventions,reduce the incidence of disease,and reduce the physical and psychological damage of children with two metabolic diseases.The confirmed positive patients were followed up in time to observe the development,the diet were prompt given,and timely drug dose adjustment,regular physical examination and intelligence assessment were conducted,and early intervention during abnormalitiesMethodsBy means of retrospective investigation into babies born from January 1,2013 to December 31,2017 in Yanbian area,descriptive analysis and statistical inference of related data of 67410 cases of neonatal diseases screening(two diseases)were carried out Survey method:According to the research requirements of the subject,after obtaining the leadership permission of the relevant units of the Yanbian Neonatal Screening Center,the 67410 cases of neonatal disease screening(two diseases)born from January 1,2013 to December 31,2017 will be retrieved through the registration of the Neonatal Disease Screening Information Platform.Research and statistical methods:through the form information collected and extracted data,sort and create Excel forms,classified according to research protocol.Statistical analysis was performed using SPSS 17.0 software.Count by number of cases and percentage(%),measurement data were represented by(x±s),and group t-test was used for comparison between the two groups.Newborn born 72 hours to 7 days after birth,collecting foot blood after at least 8 times feeding and making dried blood filter paper.Detection of phenylalanine(Phe)and thyrotropin(TSH)levels in dried blood spots of filter paper by fluorescence detection.Phe≥2.0mg/dl,TSH≥9uU/ml is positive,positive suspicious children recalled for diagnosis,and the results of the review were still positive,the dried blood filter paper and urine filter paper were collected,send it to Xinhua Hospital affiliated to Shanghai Jiaotong University for measurement of the activity hemoglobin dihydrobiopterin reductase and detection the spectrum in urine to confirm the PKU classification.TSH was suspiciously positive,and three items of blood thyroid function(TSH,FT3,FT4)were measured after the recall to confirm the diagnosis.Determining the developmental quotient(DQ)of the child with phenylketonuria(PKU)and hyperphenylalaninemia(HPA)at the age of 1 year,comparison with developmental quotient(DQ)in normal 1 year old child with random screening.Determining the height,BMI,developmental quotient(DQ)of the child with congenital hypothyroidism(CH)at the age of 1 year,comparison with the height,BMI and developmental quotient(DQ)in normal 1 year old child with random screening.Statistical analysis was performed using SPSS 17.0 software.Count by number of cases and percentage(%),measurement data were represented by(x±s),and group t-test was used for comparison between the two groups.Random screening of children’s parents for education,all of which have reached high school education and above.Results1.From 2013 to 2017,a total of 67410 cases were screened in Yanbian,and the annual number of screenings accounted for more than 94%.16 children with congenital hypothyroidism(CH)were diagnosed,the incidence rate was 1/4213;12 cases were diagnosed with hyperphenylalaninemia(HPA);5 cases of phenylketonuria(PKU)were diagnosed,the incidence rate was 1/13452,compared with the average PKU incidence rate of 1/11376 in China from 1991 to 2011[1],the incidence of PKU in this region is slightly higher,compared with the national CH incidence rate of 1/2099,the incidence of CH in this region is slightly higher.2.Establish a medical record file immediately after diagnosis.Phenylketonuria(PKU)and hyperphenylalaninemia(HPA)were given to a low phenylalanine diet.Developmental quotient(DQ),early diet and drug intervention treatment at 1 year of age through the Child Heart Development Scale.There was no statistically significant difference in the developmental quotient(DQ)between the PKU and HPA children who were followed up and compared with the normal screening of the same age.3.Oral thyroxine replacement therapy were taken immediately after screening for congenital hypothyroidism(CH).The developmental quotient(DQ),the height and BMI values was monitored by the Child Heart Development Scale at the age of 1 year after treatment.There was no statistically significant difference in developmental quotient’(DQ),height,and BMI between children who were treated with thyroxine sodium tablets and those who were randomized to the same age.Conclusion1.The average screening rate of neonatal diseases in Yanbian area from 2013 to 2017 was 95.09%,which was relatively high and showed a gradual upward trend.2.The incidence of phenylketonuria(PKU)in Yanbian area is slightly higher than the national incidence rate.The incidence of congenital hypothyroidism(CH)is lower than the national incidence.3.Early diagnosis and intervention through neonatal disease screening,effectively control the irreversible damage of phenylketonuria and congenital hypothyroidism on neonatal body and mental development，so as to-improve the quality of the birth population.