| Research background:Birth defect refers to abnormal anatomy on the structure or function of the embryo or fetus during development before or during the pregnancy, because of genetic factors, environmental factors, or both together. Birth defect is a worldwide problem, which is happens frequently in China, There are 800,000 to 1,200,000 congenitally handicapped children born every year, according to the monitoring results of birth defect in recent years.Approximately 200,000 to 300,000 of them are clinically visible birth defects in infants born, and others will appear for some time after birth defects.Birth defects include congenital malformation, dysgnosia, genetic or metabolic diseases, and so on. The causes of birth defects are complex. Prevention is fundamentally important means of reducing the rates of birth defects. The World Health Organization has divided the prevention of birth defects into three grades. Primary prevention and secondary prevention are the disease prevention of unborn fetus, and the secondary prevention aims at the remedial treatment of birth defects. Primary prevention includes premarital checkups, preconception care and genetic counseling. Secondary prevention includes prenatal screening and prenatal diagnosis to timely detect severe intrauterine birth defects and stop the pregnancy by manual method by which to reduce the rate of birth defect. Tertiary prevention mainly aim to the targeted screening of newborns who have were born, by which to early detect the birth defects and timely give treatment or intervention, and improve the prognosis.Newborn screening is an important measurement of tertiary prevention of birth defect. Neonatal disease screening is a special examination of congenital and inherited diseases which seriously endanger the newborn health, which can provide early diagnosis and treatment. Chinese Newborn Screening Regulations stipulates that newborn diseases screening covers congenital hypothyroidism, phenylketonuria, other inherited or metabolic diseases and hearing impairment. In most provinces and regions have already carried out the newborn diseases screening, even though the levels are different.Purpose of research:The newborn genetic metabolic diseases screening was carried out in a district in 1998, including congenital hypothyroidism (CH) of newborn and phenylketonuria (PKU). Other screening programmes such as glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and congenital adrenal hyperplasia (CAH) were added in 2009. Furthermore, newborn hearing screening was carried out in 2003. Information platform of eugenic and superior nurture was built in October 2010, which covers genetic metabolic diseases screening and neonatal hearing screening data. It’s so convenient to query datas and easy, and make it possible for the study of the four genetic metabolic diseases and hearing screening.One research has been done on congenital hypothyroidism (CH) of newborn, phenylketonuria (PKU), glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and congenital adrenal hyperplasia (CAH), and newborn hearing screening between 2011 and 2013 in a district,We analysed the differences of the morbidity of these diseases between this district and other regions in our country, and study their releted factors, so that we can intervene as soon as possible, lower the morbidity or disability rate and reduce damage to children.Research method:By means of field investigation and retrospective investigation into babies born from Janury 1,2011 to December 31,2013, in a district of a city, descriptive analysis and statistical inference of related datas of 18631 newborn screening (four diseases) and 17846 hearing screening were carried out. Survey method:According to the design requirements of the issue, with the permission of our leader, I made complete registration sheets of inherited metabolic disease screening and hearing screening, in order to collect more efficient datas. Then I got some related datas of 18631 newborn screening (four diseases) and 17846 hearing screening from Janury 1,2011 to December 31,2013, in a district of a city by logging in the information platform of prenatal and postnatal care, with the permission of our unit. Research and statiatical methods:through the form information collected and extracted data, sort and create Excel forms, classified according to research programme. Measurement datas were described and analysed through statistical graphs. χ2 test was used to compare constituent ratio. SPSS 17.0 statistics were employed to analyse all datas.Research results:1. From 2011 to 2013,18631 newborns were screening, Diagnosed with Congenital hypothyroidism (CH) 21 patients, the incidence of CH 1:887; diagnosis of Phenyketonuria(PKU),5 patients, the incidence of PKU 1:3726; confirmed Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 2 patients,1:9315 incidence of G-6-PD deficiency; neonatal congenital adrenal hyperplasia (CAH) was not detected.2.The incidence of CH in this district (1:887) was higher than the national incidence of CH(1:2034), which had statistically significnat(P<0.01); The incidence of PKU in this district (1:3726) was higher than this city’s incidence of PKU(1:7179); The incidence of G-6-PD in this district (1:9315) was lower than this city’s incidence of G-6-PD (1:3044); Congential adrenal hyperplasia(CAH) was not detected, lower than the incidence of CAH(1:20167) in Taian, which is adjacent to the city. The countries and regions reported the incidence of CAH was from 1:10000 to 1:20000, and the incidence of CAH in Shanghai was 1:18795.3.Confirmed in one district of 21 cases of children with CH, according to the registered permanent residence, including rural registered permanent residence with 20 cases,non-rural account children in 1 case, rural registered permanent residence of neonatal CH incidence was higher than the non-rural registered permanent residence, the incidence of neonatal difference was statistically significant (x2=6.22 P< 0.05); 5 cases were diagnosed PKU children, of which rural registered permanent residence with 4 cases,1 cases children with non-rural registered permanent residence;Confirmed G-6-PD deficiency children in 2 cases, children with rural registered permanent residence in 1 case, the non-rural registered permanent residence children in 1 case.4.Confirmed in one district of 21 cases of children with CH, according to the birth month, mostly focused on 12, January and February. According to the season of birth statistics, CH prevalence was significantly higher in the winter season, CH in CH prevalence rate in winter and spring and autumn the prevalence, the difference was statistically significant(x2=6.11 P< 0.05),the winter CH prevalence compared with summer CH prevalence, the difference was statistically significant (x2=7.32 P<0.05)5.In a district with congenital hypothyroidism (CH) 21 confirmed cases, including 13 cases of baby boy, girls in 8 cases,gender ratio of 1.6:1, boy’s prevalence rate was higher than girl’s, but no statistical significance(χ2= 0.67 P>0.05); Baby boy 3 cases in children with diagnosed PKU, girls in 2 cases, the male female ratio of 1.5:1; G-6-PD deficiency diagnosed with baby in 2 cases, girls in 0.6.Different one district evaluated integratedly the comparison of the incidence of neonatal screening for the disease, diagnosis of 21 cases of children with CH, According its incidence of evaluated integratedly statistics, the highest incidence of evaluated integratedly was the town of Xiao Meng(30.22/10000),the lowest incidence of evaluated integratedly was the office of Jiuxianqiao, the office of Longqiao, the town of Xinyi, with the incidence of O.The difference incidence between various villages and towns had no statistical significance(P>0.05);The number of PKU in this district was 5 cases in total, with 2 cases in the town of Xiaomeng, the office of Gulou,the town of Xinyan and Daan had 1 case for each other. The number of G-6-PD had only 2 cases in this district, there had no statistical significance because of so little case.7. The number of live birth was 19185 between 2011 and 2013. Hearing screening in newborn screening was 17846, the screening rate was 93.02%. The number of second screening was 1481, but only 1360. The rate of second screening was 91.82%.Diagnosis of 124 cases of children with hearing loss, the incidence rate of hearing loss was 6.94‰;60 cases of children with binaural hearing loss,the incidence rate of hearing loss was 3.36‰;the incidence rate of severe hearing loss or even worse was 0.84‰.8.During the process of the newborn hearing screening in a district,the fail rate of screening the high-risk infants was higher than the average neonatal screening, the difference was statistically significant(P<0.01).9.According the statistics in towns, the highest incidence of hearing loss in newborn was the town of Longqiao and the office of Jiuxianqiao, the incidence rate was 11.79‰, the lowest incidence rate was 3.39‰ in the town of Caohe.Reference to the town of Caohe,there had a statistical test of the incidence of hearing loss in various towns, the highest rate was the office of Longqiao. The statistically was significant(χ2=5.33 P<0.05)10.The number of diagnosis of children with congenital hearing loss in one district was 124 cases, including 87 cases of baby boys,37 baby girls. And the gender ratio was 2.35:1. The prevalence of baby boys was higher than the baby girls, the difference was statistically significant (χ2=15.12 P<0.01)11.There were 124 cases of hearing loss, including 60 cases of double ear with hearing loss, with the rate of 3.36%;only one ear hearing loss was 64 cases,with the rate of 3.58%;There was no statistically difference (χ2=0.13 P>0.05; The rate of double ear with severe hearing loss was 0.62‰; One ear incidence was 0.45‰;the difference was no statistics significant (χ2=0.81 P>0.05).12. According to the statistics by month of birth, in the diagnosis of 124 cases of children with congenital hearing loss, in November and December at least,but most in January.Handled by the statistics,the difference was statistically significant(P<0.05).According to the season of birth statistics,comparing with other seasons,baby was born in the winter with the highest incidence of hearing loss,but there no statistical significance(P>0.05).13. The number of diagnosis of children with congenital hearing loss in one district was 124 cases, according to the registered permanent residence,with 89 cases children with rural registered permanent residence,35 cases of non-rural registered permanent residence.The rate of rural neonatal hearing loss incidence was 7.09%o,which was higher than the rate of non-rural neonatal hearing loss of 6.61‰. but the difference was not statistically significant (χ2=0.12 P>0.05)Conclusion:1. The neonatal screening rate in this district of the city was higher than the other districts.2.The district with CH morbidity was higher than the national rate;The morbidity of PKU and G-6-PD was lower than the national rate;The morbidity of CAH was below in various countries and various areas,which was reported the incidence of 1:10000-1:20000,and the incidence of CAH in Shanghai was 1:18795.3.The incidence of neonatal CH in rural registered permanent residence was higher than the incidence of non-rural registered permanent residence in this district of the city.4.According to the season of birth statistics in the district of the city,the winter CH prevalence was higher than other seasons.5.The hearing screening rate in the district of the city was higher than others.6.The hearing screening rate in the district of the city was in normal range.However, the statistics was not consistent with the national’s report, the general prevalence of hearing impairment in newborns was froml.6‰ to 9.1‰, severe or more account for 0.5-4.2%o.The incidence of neonatal ICU could be as high as 4.2-22.6%o, severe above up to 10%o.7.The no pass rates of high-risk newborn hearing screening was higher than the average newborn hearing screening in the distrist of the city.8.The baby boy’s hearing loss incidence was higher than the baby girl’s.9. According to the statistics by the birth month, the number of hearing loss in children with diagnosis,January was most.10. According to the children of registered permanent residence, the incidence of neonatal hearing loss in the office of Longqiao and Jiuxianqiao was the same and the highest,the town of Caohe was lowest. |
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