National Perinatal Prevalence of Selected Major Birth Defects--China,2010−2018

Introduction:An estimated of 900,000 infants are born with birth defects each year in China causing a substantial disease burden.This study aimed to depict the epidemiological patterns of selected major birth defects in Chinese perinatal births and provide important baseline data for future prevention.Methods:Data from the Chinese Birth Defects Monitoring Network(CBDMN)during 2010–2018 were used to analyze the epidemiological pattern in the prevalence of 15 major birth defects and the trends over time.Results:In the period of 2010–2018,the top 10 most frequently-occurring birth defects in China included congenital heart diseases(CHDs),polydactyly,cleft lip with or without palate(CL/P),club foot,syndactyly,hydrocephalus,hypospadias,limb reduction defects(LRD),anotia/microtia,and anorectal atresia/stenosis.There was a decrease in the prevalence of neural tube defects,CL/P,hydrocephalus,LRD,gastroschisis,and omphalocele,but there were increases in the prevalence of CHDs,cleft palate,hypospadias,club foot,polydactyly,and syndactyly.The prevalence of most birth defects varied significantly by maternal age,area types(urban/rural),and geographic regions.Conclusions and Implications for Public Health Practice:The findings indicated that the comprehensive prevention of birth defects should focus on these selected birth defects,elderly pregnant women,rural areas,and western regions.

Spatial distribution patterns of anorectal atresia/stenosis in China:Use of two-dimensional graph-theoretical clustering

AIM:To investigate the spatial distribution patterns of anorectal atresia/stenosis in China.METHODS:Data were collected from the Chinese Birth Defects Monitoring Network(CBDMN),a hospital-based congenital malformations registry system.All fetuses more than 28 wk of gestation and neonates up to 7 d of age in hospitals within the monitoring sites of the CBDMN were monitored from 2001 to 2005.Two-dimensional graph-theoretical clustering was used to divide monitoring sites of the CBDMN into different clusters according to the average incidences of anorectal atresia/stenosis in the different monitoring sites.RESULTS:The overall average incidence of anorectal atresia/stenosis in China was 3.17 per 10000 from 2001 to 2005.The areas with the highest average incidences of anorectal atresia/stenosis were almost always focused in Eastern China.The monitoring sites were grouped into 6 clusters of areas.Cluster 1 comprised the monitoring sites in Heilongjiang Province,Jilin Province,and Liaoning Province;Cluster 2 was composed of those in Fujian Province,Guangdong Province,Hainan Province,Guangxi Zhuang Autonomous Region,south Hunan Province,and south Jiangxi Province;Cluster 3 consisted of those in Beijing Municipal City,Tianjin Municipal City,Hebei Province,Shandong Province,north Jiangsu Province,and north Anhui Province;Cluster 4 was made up of those in Zhejiang Province,Shanghai Municipal City,south Anhui Province,south Jiangsu Province,north Hunan Province,north Jiangxi Province,Hubei Province,Henan Province,Shanxi Province and Inner Mongolia Autonomous Region;Cluster 5 consisted of those in Ningxia Hui Autonomous Region,Gansu Province and Qinghai Province;and Cluster 6 included those in Shaanxi Province,Sichuan Province,Chongqing Municipal City,Yunnan Province,Guizhou Province,Xinjiang Uygur Autonomous Province and Tibet Autonomous Region.CONCLUSION:The fi ndings in this research allow the display of the spatial distribution patterns of anorectal atresia/stenosis in China.These will have important guiding significance for further analysis of relevant environmental factors regarding anorectal atresia/ stenosis and for achieving regional monitoring for anorectal atresia/stenosis.

Autophagy-targeting modulation to promote peripheral nerve regeneration

Nerve regeneration following traumatic peripheral nerve injuries and neuropathies is a complex process modulated by diverse factors and intricate molecular mechanisms.Past studies have focused on factors that stimulate axonal outgrowth and myelin regeneration.However,recent studies have highlighted the pivotal role of autophagy in peripheral nerve regeneration,particularly in the context of traumatic injuries.Consequently,autophagy-targeting modulation has emerged as a promising therapeutic approach to enhancing peripheral nerve regeneration.Our current understanding suggests that activating autophagy facilitates the rapid clearance of damaged axons and myelin sheaths,thereby enhancing neuronal survival and mitigating injury-induced oxidative stress and inflammation.These actions collectively contribute to creating a favorable microenvironment for structural and functional nerve regeneration.A range of autophagyinducing drugs and interventions have demonstrated beneficial effects in alleviating peripheral neuropathy and promoting nerve regeneration in preclinical models of traumatic peripheral nerve injuries.This review delves into the regulation of autophagy in cell types involved in peripheral nerve regeneration,summarizing the potential drugs and interventions that can be harnessed to promote this process.We hope that our review will offer novel insights and perspectives on the exploitation of autophagy pathways in the treatment of peripheral nerve injuries and neuropathies.

Epidemiology of congenital diaphragmatic hernia among 24 million Chinese births:a hospital-based surveillance study

Background The prevalence of congenital diaphragmatic hernia(CDH)varies across countries,with limited information available on its epidemiology in China.Our study aimed to investigate the prevalence,time trends,and perinatal outcomes of CDH in China,as well as its associated malformations and potential associations with maternal and infant characteristics.Methods This study included all birth and CDH cases from the Chinese Birth Defects Monitoring Network between 2007 and 2019,with CDH cases classified as either isolated or associated.We employed the joinpoint regression model to calculate the trends of prevalence and the annual percent change,with Poisson regression used for adjusted prevalence rate ratios.A P value≤0.05 was considered statistically significant.Results A total of 4397 CDH cases were identified among 24,158,029 births in the study period,yielding prevalence rates of 1.82,1.13 and 0.69 per 10,000 for overall,isolated,and associated CDH,respectively.The prevalence of each type of CDH increased over time.The prevalence of overall CDH varied significantly by infant sex(male vs.female,1.91/10,000 vs.1.63/10,000),maternal residence(urban vs.rural,2.13/10,000 vs.1.45/10,000),maternal age(<20 years,1.31/10,000;20-24 years,1.63/10,000;25-29 years,1.80/10,000;30-34 years,1.87/10,000;≥35 years,2.22/10,000),and geographic region(central,1.64/10,000;east,2.45/10,000;west,1.37/10,000).Cardiovascular anomalies were the most common malformations associated with CDH.Infants with associated CDH had a higher risk of premature birth and perinatal death than those with isolated CDH.Conclusion The increasing prevalence and high perinatal mortality rate of CDH highlight the need for further etiological,epidemiological,and clinical studies among the Chinese population.

Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013–2018

Background:Although congenital hypothyroidism(CH)has been widely studied in Western countries,CH incidence at different administrative levels in China during the past decade remains unknown.This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China,which could be helpful in the planning and implementation of preventative measures.Methods:The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System.Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level.Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China,and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level.Results:A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified,yielding an incidence of 4.66 per 10,000 newborns screened(95%confidence interval[CI]:4.62–4.71).Neonates in central(risk ratio[RR]=0.84,95%CI:0.82–0.85)and western districts(RR=0.71,95%CI:0.69–0.73)had lower probability of CH cases compared with the eastern region.The CH incidence indicated a moderate positive global spatial autocorrelation(Global Moran I value=0.394,P<0.05),and the CH cases were significantly clustered in spatial distribution.A most likely city-cluster(log-likelihood ratio[LLR]=588.82,RR=2.36,P<0.01)and 25 secondary city-clusters of high incidence were scanned.The incidence of each province and each city in the mainland of China was estimated by kriging interpolation,revealing the most affected province and city to be Zhejiang Province and Hangzhou city,respectively.Conclusion:This study offers an insight into the space clustering of CH incidence at provincial and city scales.Future work on environmental factors need to focus on the effects of CH occurrence.