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Objectives : To find out (i) the proportion and the types of consanguinity and (ii) its correlation with fetal loss, neonatal deaths, complication related to obstetric and congenital abnormalities. Methods : All the delivered women at Tertiary Care Hospital were included in the cross sectional study during the study period. Total sample size was 6775. Information regarding educational status, occupation, consanguinity and pregnancy outcome was collected. Results : 17% consanguinity was found in selected people and among these marriages, 59.8% were between first cousins. There was highly significant difference observed between the consanguineous status of women and pregnancy outcome (Congenital malformations, abortion, Intrauterine death). Conclusion: The incidence of congenital abnormalities, Intrauterine Device (IUD) and abortion was found higher in Consanguineous marriages. There is a need to improve public awareness regarding problems related to Consanguineous marriages
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Parental exposure to ionizing radiation (IR) can induce mutation in germline that may lead to genome instability, chromosomal aberrations, sex ratio variations, increased cancer susceptibility, and even increased probability of birth defects among their offspring, which substantially increase the burden of hereditary diseases. Up to now, the hereditary effect of IR has been observed in a number of species, but there is lack of evidence in humans. With reference to related studies in China and globally, this article reviews the human epidemiological studies of the hereditary effect of IR and briefly discusses why the hereditary effect of IR is not obvious in humans, so as to provide a reference for future assessment of the hereditary effect of radiation in China.
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Objective:To analyze birth defects in perinatal infants in Huainan city, Anhui province.Methods:The data of perinatal infants with birth defects born during 2015-2019 who were monitored in nine national and provincial birth defect monitoring hospitals in Huainan City were collected. The changes in birth defects, the incidence of birth defects in infants ≥ 28 weeks, urban and rural area distribution of birth defects, type of defects, and the related factors of birth defects during a 5-year study period were analyzed.Results:A total of 90 466 perinatal infants with the incidence of birth defects of 89.87/10 000 were monitored during 2015-2019. The incidence of birth defects in Anhui Province was 139.74/10 000. The proportion of preterm infants < 28 weeks with birth defects among full-term births with birth defects was 30.93% and the proportion increased year by year during 2015-2019, with the proportion of 14.84%, 31.69%, 34.83%, 32.84% and 34.02% respectively. The top five birth defects detected during 2015-2019 were multiple fingers (toes) ( n = 189, 20.89/10 000), cleft lip ( n = 96, 10.61/10 000), external ear deformity ( n = 79, 8.73/10 000), congenital heart disease ( n = 65, 7.19/10 000) and syndactyly ( n = 40, 4.42/10 000). The incidence of birth defects in males and females was 102.77/10 000 and 85.28/10 000, respectively. The incidence of birth defects in urban and rural areas were 107.38/10 000 and 79.60/10 000, respectively. Conclusion:The incidence of birth defects in preterm infants < 28 weeks in Huainan City was lower than that in the whole Anhui Province. The incidence of birth defects in Huainan City differed in different years. The incidence of birth defects in males was higher than that in females. From 2016, the incidence of birth defects in urban area was higher than that in rural area. Birth defects mainly consisted of multiple fingers (toes), external ear deformity, congenital heart disease, cleft lip and syndactyly. The detection rate of birth defects in preterm (< 28 weeks) patients was increased year by year. Early intervention effectively decreased the incidence of birth defects and improved the quality of the population in Huainan City.
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Objective:To retrospectively characterize the perinatal birth defects in the latest 5 years in Minhang District of Shanghai， and provide the evidence to improve the preventive strategies. Methods:The data of perinatal birth defects was retrieved from “Shanghai information reporting system for children with birth defects and disabilities” ，which was recorded by five sentinel hospitals in Minhang District from January 2014 to December 2018. Average proportion of perinatal birth defects in the recent 5 years， annual variation， comparison with municipal data in the same period， difference between registered population and migrant population， difference between male and female， and common birth defects were determined. Results:The average proportion of perinatal birth defects in the recent 5 years was determined to be 6.24‰， which increased from 5.32‰ in 2014 to 7.90‰ in 2018. It was lower than the municipal proportion in Shanghai with an average of 11.02 ‰ （from 9.7 ‰ in 2014 to 14.00 ‰ in 2018）. The proportion was higher in resident population （9.15‰） than that in migrant population （5.57‰）. In addition， the proportion was higher in male infants （6.81‰） than that in female infants （5.59‰）. The first two common defects were congenital heart disease and polydactyly， while cleft lip and cleft lip with palate showed a decreasing trend. Conclusion:In the recent 5 years， the proportion of birth defect increases， which is consistent with the whole city. There remain challenges in the maternal and children healthcare.
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Folic acid is one of the essential nutrients for human health. Folic acid supplementation during pregnancy is important to prevent fetal neural tube defects. This article briefly reviews its current clinical use from the basic characteristics and mechanism of folic acid, and also reviews the latest literature of fetal, neonatal and children. The terms such as "fetus", "newborn", "folate", "infant, newborn" [Mesh], and "folic acid" [Mesh] are used to search for relevant research from China National Knowledge Infrastructure, Wanfang, PubMed and The Cochrane Library. Summary of domestic and foreign studies: folic acid may be associated with fetal neural tube defects, the relationship between folic acid and fetal birth defects, fetal growth restriction and perinatal mortality remains to be further studied; in addition, folic acid is associated with neonatal asphyxia and brain injury; may be associated with childhood asthma, mental retardation and immunity. It can be seen that although the correlation between folic acid and various diseases still needs more scientific research, it is recommended that periconception and pregnant should reasonably supplement folic acid.
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We investigated the associations of clinical and socioeconomic factors with delayed orchidopexy for cryptorchidism in China. A retrospective study was conducted on cryptorchid boys who underwent orchidopexy at Children's Hospital at Chongqing Medical University in China from January 2012 to December 2017. Of 2423 patients, 410 (16.9%) received timely repair by 18 months of age, beyond which surgery was considered delayed. Univariate analysis suggested that the laterality of cryptorchidism (P = 0.001), comorbidities including inguinal hernia/scrotal hydrocele (P < 0.001) or urinary tract disease (P = 0.016), and whether patients lived in a poverty county (P < 0.001) could influence whether orchidopexy was timely or delayed. Logistic regression analysis suggested that the following factors were associated with delayed repair: unilateral rather than bilateral cryptorchidism (odds ratio [OR] = 1.752, P < 0.001), absence of inguinal hernia or hydrocele (OR = 2.027, P = 0.019), absence of urinary tract disease (OR = 3.712, P < 0.001), and living in a poverty county (OR = 2.005, P < 0.001). The duration of postoperative hospital stay and hospital costs increased with the patient's age at the time of surgery.
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Child , Child, Preschool , Humans , Infant , Male , Age Factors , China/epidemiology , Cryptorchidism/surgery , Hernia, Inguinal , Orchiopexy/statistics & numerical data , Poverty , Retrospective Studies , Socioeconomic Factors , Testicular Hydrocele , Time-to-TreatmentABSTRACT
We investigated the associations of clinical and socioeconomic factors with delayed orchidopexy for cryptorchidism in China. A retrospective study was conducted on cryptorchid boys who underwent orchidopexy at Children's Hospital at Chongqing Medical University in China from January 2012 to December 2017. Of 2423 patients, 410 (16.9%) received timely repair by 18 months of age, beyond which surgery was considered delayed. Univariate analysis suggested that the laterality of cryptorchidism (P = 0.001), comorbidities including inguinal hernia/scrotal hydrocele (P < 0.001) or urinary tract disease (P = 0.016), and whether patients lived in a poverty county (P < 0.001) could influence whether orchidopexy was timely or delayed. Logistic regression analysis suggested that the following factors were associated with delayed repair: unilateral rather than bilateral cryptorchidism (odds ratio [OR] = 1.752, P < 0.001), absence of inguinal hernia or hydrocele (OR = 2.027, P = 0.019), absence of urinary tract disease (OR = 3.712, P < 0.001), and living in a poverty county (OR = 2.005, P < 0.001). The duration of postoperative hospital stay and hospital costs increased with the patient's age at the time of surgery.
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Objective@#To explore the application of chromosomal microarray analysis (CMA) in neonatal birth defects and further determine the frequency of chromosome imbalances in neonates with birth defects.@*Methods@#Retrospective analysis was performed in 121 neonates with specific features, such as distinctive facial features, congenital heart disease, congenital malformation, neonatal decreased responsive, hypotonia, seizures and others at the Department of Neonatology, Guangdong Women and Children Hospital from May 2016 to November 2017.All the cases were analyzed by using chromosomal microarray analysis (CMA).@*Results@#A total of 23 (19.0%) patients were identified with pathogenic CNVs, 3 patients (2.5%) with uncertain clinical significant CNVs.There were 5 patients (4.1%)with chromosome numerical abnormalities, 12 patients (9.9%)with microdeletion/microduplication syndrome, 6 patients (5.0%) with chromosome deletion or duplication.All groups whose incidence was sorted from high to low were facial characters(30.3%), congenital malformation(21.6%), neonatal decreased responsive(9.1%) and other indications(6.7%).@*Conclusions@#CMA is a valuable clinical diagnostic tool that allows precise identification of chromosome imbalances as the cause of birth defects in neonates.CMA can detect many more clinically relevant genomic abnormalities than conventional cytogenetic study and assist the clinician in diagnosis, early neonatal intervention, and genetic counseling.
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Folic acid deficiency is associated with birth defects such as fetal spina bifida and congenital heart disease.Folic acid supplementation during pregnancy can prevent various birth defects, but excessive folic acid may increase the risk of certain diseases.This article reviews the causes of folate deficiency, single nucleotide polymorphisms of folate metabolism-related enzyme genes, the mechanism of birth defects caused by folic acid deficiency, and the correct supplementation of folic acid to prevent birth defects.
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Objective: To investigate the application of gray model GM(1, 1) in predicting the incidence of birth defects at different levels and the effect of data volatility on the prediction outcome. Methods: Based on the monitoring data of birth defects in Xi'an from October 2009 to September 2016, the GM(1, 1) was used to predict the overall incidence of birth defects and incidence of five main birth defects at three levels (month, quarter, and year). We compared the fitting accuracy of different level prediction models. Results: The average relative error for yearly prediction of overall birth defect was 4.6%, and the mean square deviation was 0.259, which might suggest better prediction. Quarterly forecasting results were almost qualified and the average relative error was 10.2%. Monthly prediction was poor with an average relative error of 17.5%. With the extension of the forecast period, the grey model prediction results of the top five birth defects (congenital heart disease, cleft lip and palate, neural tube defects, multiple fingers, and congenital hydrocephalus) in Xi'an all increased, and the fitting accuracy gradually improved. The gray scale of the year was the best. Conclusion: The prediction results of the gray model may be related to the volatility of the data. It may be suitable for predicting the incidence of birth defects by the year.
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Objective: To understand the trend of birth defects in Xi'an by using gray model, ARIMA and NAR. Methods: The birth defects monitoring data of perinatal infants from 28-week pregnant women to 7 days after birth were collected from all the hospitals with obstetrical department in Xi'an during 2003 and 2015. The incidence of birth defects data from October 2003 to September 2015 in Xi'an City were used to construct the data model. We compared data with the actual birth defects rate from October 2003 to September 2015 to further optimize and make supplement for the model, and then predicted the incidence of birth defects in Xi'an from 2016 to 2017. Microsoft Excel 2003 was used for data input and SPSS version 16.0 was used for statistical analysis. Matlab was used for Gray Model and NAR prediction. ARIMA mathematical model was predicted by R software. Results: The grey prediction model suggested that the birth defects rate in the four quarters of 2016 and 2017 was 9.62‰, 9.67‰, 9.72‰, 9.77‰, 9.82‰, 9.87‰, 9.92‰ and 9.97‰, which was in slow increase. The ARIMA model predicted that the birth defects rate in Xi'an would still fluctuate at a high level in 2016 and 2017, and the rate in the four quarters was 11.98‰, 12.83‰, 11.28‰, 11.78‰, 12.23‰, 11.73‰, 11.80‰ and 12.00‰. The NAR model predicted that the birth defects rate in Xi'an was 13.24‰, 17.91‰, 10.55‰, 16.08‰, 16.47‰, 9.42‰, 11.99‰ and 11.68‰. The birth defects rate would reach the peak in 2016 and decrease in 2017. Comparison of the above three models showed that the root mean square error of grey prediction model, ARIMA model and NAR model was 1.353 009, 1.181 373 and 0.555 347, respectively. Conclusion: Based on the prediction by the above three mathematical models, it shows that NAR model is more accurate and reliable in predicting the data of this study, followed by ARIMA and grey model. Effective intervention measures for birth defects are still the key task of public health for a long time.
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Folic acid deficiency is associated with birth defects such as fetal spina bifida and congenital heart disease. Folic acid supplementation during pregnancy can prevent various birth defects, but excessive fo-lic acid may increase the risk of certain diseases. This article reviews the causes of folate deficiency, single nu-cleotide polymorphisms of folate metabolism-related enzyme genes, the mechanism of birth defects caused by folic acid deficiency, and the correct supplementation of folic acid to prevent birth defects.
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Objective@#To analysis the rate of birth defects of cleft lip and palate among newborns in Shanghai during 2007 and 2016 and describe its change trend, for the purpose of prevention, treatment and nursing of newborns with cleft lip and palate.@*Methods@#Birth registration information in Shanghai during January 2007 and December 2016 were collected. Rate of birth defects, gender ratio and maternal age of newborns with cleft lip and palate were analyzed. Annual percent change was applied to analyze the trend.@*Results@#The total birth defect rate of children with cleft lip and palate was 937/million in the past 10 years in Shanghai, showing an overall decreasing trend, decreased 28.20% compared to the data of 2007. The total birth defect rate of newborns with cleft lip decreased 40.86%. Overall decline rate of newborns with cleft lip and palate was 54.60%, but birth defect rate of newborns with the isolated cleft palate rised 14.34%. The number of female isolated cleft palate newborns were 1.6 times higher than those of male isolated cleft palate newborns, male newborns with cleft lip were 1.8 times higher than that of the female newborns with cleft lip. Male newborns with cleft lip and palate were 1.5 times as much as the female newborns with cleft lip and palate. Maternal age is mainly 25 to 29 years old, accounting for 42.01% of the total number of mothers, the according birth defect rate was lowest as 853/million. When maternal age is too low or too high, the risk of neonatal cleft lip and palate could increase. Birth defects of cleft lip and palate was up to 130.8/million when maternal age is less than 20, while birth defects of cleft lip and palate was up to 188.2/million when maternal age over 40 years old.@*Conclusions@#In recent 10 years, the overall rate of birth defects of cleft lip and palate in Shanghai shows a decreasing trend, with cleft lip and palate declining obviously, but isolate cleft palate has an increasing tendency. Maternal age less than 20 years old or more than 40 years old will increase the risk of birth defects in newborns with cleft lip and palate.
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Birth defects are the abnormalities in structure,function or metabolism of embryonic or fetal development.They are the main cause of early abortion,stillbirth,perinatal mortality,infant mortality and congenital disabilities.Birth defects affect not only the health and life quality of children,but also the population quality of the whole country.This paper reviews the current epidemic situation and possible causes and risk factors of birth defects.It also expounds on the importance of epidemiological study on birth defects,possibility of primary prevention of birth defects,and necessity of interdisciplinary and collaborative research.It may provide reference for prevention and control of birth defects.
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Objective To analyze the effect of special risk exposures during periconception period on birth defects of newborns.Methods From Jul.to Dec.2013,the multi-stage stratified random sampling method was adopted.Women of childbearing age between 15 and 49 who were pregnant during 2010 to 2013 in Shaanxi Province were selected as study subjects for investigation on special risk factors exposed during periconception period.The Logistic regression model was adopted to analyze the association between newborns' birth defects and special risk exposures.Results The study included 30 010 women of childbearing age and 29 550 newborns with 572 (193.57/ 10 000) cases of birth defects.After adjusting for demographic factors,the risk factors for birth defects were drinking [OR=2.29,95％ CI (1.22,4.29)] and passive smoking [OR=1.25,95％ CI (1.02,1.53)] during periconception.There was a higher risk of birth defects when exposure to medicine [OR =1.64,95％ CI (1.04,2.61)],pesticides [OR =2.41,95％ CI (1.09,5.35)],biological risk factors [OR-1.64,95％ CI (1.05,2.56)],physical risk factors [OR=1.15,95％ CI (1.13,2.34)] and chemical risk factors [OR =2.36,95％ CI (1.36,4.11)] 3 months both before and after pregnancy.Similarly,after adjusting for demographic factors and behaviors,we found that birth defects were related to antibiotics,salicylates,and antitussive,which could increase the risk of birth defects (P＜0.05).Conclusion Exposure to passive smoking and drinking during periconception and exposure to medicines and pesticides,as well as biological,physical and chemical risk factors 3 months before and after pregnancy could increase the risk of birth defects in newborns.
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Objective To analyze the trend of birth defects and air pollution in Xi'an and discuss the correlation between air pollution exposure and birth defects.Methods Time series multiplication model was used to decompose the time series of birth defects and concentration of air pollutants to describe their long-term trend and seasonal variations.The rank correlation and cross-correlation between birth defects and air pollutants were analyzed by ecological approach.Results During 2010-2015,the results of air pollution analysis in Xi'an showed that the overall trend of NO2 increased in 2013 and then fluctuated at a high level.Generally,SO2 showed a trend of slow decline,but there were two peaks in 2012 and 2013.The overall trend of PM10 had two small peaks in 2013 and 2014,and during the rest of the time the change was stable.The overall trend of PM2.5 showed a slow decline,but after 2015 it showed a slight increase.Analysis of the birth defects during 2010-2015 in Xi'an showed that the long-term trend of total birth defects and congenital heart disease increased in 2010-2014,but then decreased rapidly.The long-term trend of cleft lip and palate and neural tube defects fluctuated at a low level.Analysis of the correlation between air pollutants and birth defects showed that total birth defects and congenital heart disease were positively correlated with NO2 at 3 months before pregnancy and early 3 months of pregnancy.Congenital heart disease 3 months before pregnancy had a positive correlation with PM10.Conclusion Birth defects and air pollution in Xi'an have trend variations and seasonal regularity.There is a positive correlation of women's exposure to NO2 3 months before pregnancy and the first 3 months of pregnancy with the incidence of congenital heart disease.
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Objective To analyze the spatial distribution characteristics of birth defects and air pollution in Xi'an and the correlation between air pollution exposure and birth defects.Methods In this study,we calculated the mean and median concentration of air pollutants in Xi'an between 2010 and 2015 to describe their concentration trends.Then we analyzed quartile range to describe their discrete trend.The spatial distribution of air pollution in the whole study area was calculated by inverse distance weighted spatial interpolation method to describe its overall occurrence level.The global trend was analyzed to describe the main body change pattern in the birth defect space.The total number of birth defects in the districts and counties of Xi'an between 2010 and 2015 was calculated and the incidence of birth defects was calculated according to the monitoring data of live births.Correlation between birth defects and air pollution was analyzed by rank correlation analysis.Results The spatial distribution of air pollutants in Xi'an between 2010 and 2015 was as follows:the concentration of SO2 was relatively high in Lianhu District,Yanta District,Baqiao District,Beilin District,and Xincheng District.The concentration of NO2 was relatively high in Yanta District,Baqiao District,Lianhu District,Beilin District,and Xincheng District.The concentration of PM10 was relatively high in Baqiao District,Yanta District,Xincheng District,Weiyang District,and Yanliang District.In Baqiao District,Xincheng District,Lianhu District,Weiyang District,and Gaoling District,the concentration of PM2.5 was relatively high.The total number of birth defects was 6 858 cases in Xi'an between 2010 and 2015,and the total number of perinatal births was 752 142 cases,with the incidence of 91.18 (1/10 000).The spatial distribution of birth defects from the west to the east direction and from south to north direction was generally characterized of inverted U type.The birth defects were positively correlated with NO2 concentration.Conclusion There are obvious regional differences in air pollution and birth defects in Xi'an.Birth defects may be related to NO2.
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Objective To study the effects of air pollution including sulphur dioxide (SO2),nitrogen dioxide (NO2) and PM10 in Xi'an on birth defects.Methods We collected the birth defects data from Xi'an Maternal and Child Health Hospital,meteorological data from Xi'an Bureau of Meteorology,and the air pollution data from Xi'an Environment Monitoring Station from 2010 to 2015.Generalized additive model (GAM) was used to explore the relationship between air pollution and birth defects after adjusting the effects of long-term and seasonal trend,temperature,and relative humidity.Results The monthly average birth defects were 89 cases;the monthly average concentration of SO2,NO2 and PM10 was 34.05 μg/m3,45.13 μg/m3,and 96.77 μg/m3,respectively.In the GAM,the monthly average temperature was 13.57 ℃ and the relative humidity was 63.20％.The three kinds of air pollutants all had a certain lag effect in 10 months,which reached the maximum.With an increase of concentration by 10 μg/m3 in three air pollutants,the relative risks and confidence interval of SO2,NO2,and PM10 were 1.060 (1.023-1.097),1.033 (1.014-1.052) and 1.018 (1.007-1.029),with significant differences (P＜0.05).Conclusion Exposure to SO2,NO2,and PM10 may be associated with the risk of birth defects.
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Objective To investigate the dynamic epidemiological characteristics of perinatal birth defects in Xi'an so as to provide scientific evidence for the priority of future birth defect prevention.Methods We made a statistical description of the data of perinatal birth defects from 2010 to 2015 reported by all the maternity hospitals in Xi'an.Results The incidence of birth defects in Xi'an from 2010 to 2015 was 89.62/104 (87.60/104,91.74/ 104) and had an annual ascending tendency (x2-157.13,P＜0.01).The top five main birth defects in a descending order were congenital heart disease (26.53/104),polydactyly (13.10/104),total cleft lip (11.42/104),neural tube defects (6.06 /104),and congenital hydrocephalus (5.08/104),accounting for 69.39％ of the total number of birth defects.And the incidence of congenital heart diseases showed a year-by-year ascending trend (x2=837.65,P＜ 0.01).The incidence of birth defects was higher in urban areas than in rural areas (OR 1.108,95％ CI:1.056-1.162).The birth defects were more frequently seen in males than in females (OB=1.151,95％ CI:1.097-1.208).Mother's age ＜20 (OR=1.764,95％ CI..1.532-2.032) and mother'sage≥35 (OR=1.283,95％ CI:1.179-1.395) also were risk factors for birth defects.Up to 72.54％ of the defects were live births.There were 52.83％ cases diagnosed by ultrasound and 46.24％ ones by clinical examination.The prenatal diagnosis rate was 33.20％.Conclusion The incidence of perinatal birth defects in Xi'an from 2010 to 2015 showed an annual ascending trend.We should improve the prenatal diagnosis level of all monitored hospitals in order to reduce incidence of birth defects and increase the quality of population.
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Objective To predict the incidence of birth defects in Xi'an using the auto-regressive integrated moving average product seasonal model.Methods In Xi'an,the trend of the incidence of birth defects was analyzed and tested from October 2009 to August 2015.Using the data from September to December 2015,the actual birth defects were compared with the model fitting data to evaluate the predictive performance of the model.Multiple seasonal ARIMA model was then fitted under time series to predict the incidence of birth defects in 2016.Results Seasonal effect was seen in the incidence of birth defects in Xi'an.A multiple seasonal ARIMA(0,0,1) (0,1,1)12 was established.The mean of absolute error and the relative error were 9.5 and 0.084,respectively,when compared to the simulated number of patients from September to December in 2015,suggesting that ARIMA (0,0,1) (0,1,1)12 has a better predictive ability.Results under the prediction of multiple seasonal ARIMA model showed that the number of patients in 2016 was similar to that of 2015 in Xi'an,with a slight increase and a decrease in the peak value.Conclusion Multiple seasonal ARIMA(0,0,1)(0,1,1)12 model could be used to successfully predict the incidence of birth defects in Xi'an.