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      An evaluation of a five-year program for newborn congenital heart disease screening in Jiangsu Province, 2019–2023

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          Abstract

          Background

          Since 2019, Jiangsu province has implemented newborn screening for congenital heart disease (CHD). As of 2023, 591 hospitals (584 public or private midwifery institutions, 7 specialized hospitals for children) in Jiangsu province conduct CHD screening, including 132 with diagnostic capabilities and 21 with treatment facilities, ensuring comprehensive coverage of 13 prefecture-level cities, 95 counties (19 counties, 21 county-level cities, 55 districts) in Jiangsu Province. This study aims to examine the implementation of the newborn CHD screening program within Jiangsu Province’s healthcare systems using real-world clinical data and to assess its effectiveness in patient care systematically. Additionally, we seek to offer data-driven recommendations for advancing the development of patient risk screening tools.

          Methods

          Our study analyzed dataset from live births at midwifery institutions across Jiangsu province from 2019 to 2023. All newborns aged 6–72 h were screened by trained medical staff using the dual-index method. Newborns diagnosed without CHD or screened negative were tracked through the Child Health Management program, a basic public health service for children under 7 years of age in China. Newborns testing positive were referred to a diagnostic institution for echocardiographic assessment, and those with confirmed CHDs were directed to a treatment facility for further evaluation and treatment.

          Results

          During the study period, 2,512,635 out of 2,648,298 infants (94.88%) were screened within 72 h of birth. Of these, 71,041 (2.83%) tested positive for screening, and 23,150 (32.59%) of those positive were diagnosed with CHD. From 2018 to 2023, there was approximately a twofold decrease in the infant mortality rate (IMR) due to CHD, from 0.37‰ to 0.14‰ (APC= -17.33, P < 0.001), and a reduction in the under-five mortality rate (U5MR) due to CHD, from 0.45‰ to 0.17‰ (APC= -16.79, P < 0.001).

          Conclusions and relevance

          The current study provides encouraging evidence that the screening program has effectively advanced the diagnosis of CHD in children and reduced infant mortality, thereby supporting health rights and benefiting children with CHD throughout the province. Furthermore, our analysis demonstrates that the newborn CHD screening program has been effectively implemented across Jiangsu province’s healthcare systems.

          Supplementary Information

          The online version contains supplementary material available at 10.1186/s12889-025-21698-4.

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          Most cited references27

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          Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies

          Abstract Background Globally, access to healthcare and diagnostic technologies are known to substantially impact the reported birth prevalence of congenital heart disease (CHD). Previous studies have shown marked heterogeneity between different regions, with a suggestion that CHD prevalence is rising globally, but the degree to which this reflects differences due to environmental or genetic risk factors, as opposed to improved detection, is uncertain. We performed an updated systematic review to address these issues. Methods Studies reporting the birth prevalence of CHD between the years 1970–2017 were identified from searches of PubMed, EMBASE, Web of Science and Google Scholar. Data on the prevalence of total CHD and 27 anatomical subtypes of CHD were collected. Data were combined using random-effect models. Subgroup and meta-regression analyses were conducted, focused on geographical regions and levels of national income. Results Two hundred and sixty studies met the inclusion criteria, encompassing 130 758 851 live births. The birth prevalence of CHD from 1970–2017 progressively increased to a maximum in the period 2010–17 of 9.410/1000 [95% CI (confidence interval) 8.602–10.253]. This represented a significant increase over the fifteen prior years (P = 0.031). The change in prevalence of mild CHD lesions (ventricular septal defect, atrial septal defect and patent ductus arteriosus) together explained 93.4% of the increased overall prevalence, consistent with a major role of improved postnatal detection of less severe lesions. In contrast the prevalence of lesions grouped together as left ventricular outflow tract obstruction (which includes hypoplastic left heart syndrome) decreased from 0.689/1000 (95% CI 0.607–0.776) in 1995–99, to 0.475/1000 (95% CI 0.392–0.565; P = 0.004) in 2010–17, which would be consistent with improved prenatal detection and consequent termination of pregnancy when these very severe lesions are discovered. There was marked heterogeneity among geographical regions, with Africa reporting the lowest prevalence [2.315/1000 (95% CI 0.429–5.696)] and Asia the highest [9.342/1000 (95% CI 8.072–10.704)]. Conclusions The reported prevalence of CHD globally continues to increase, with evidence of severe unmet diagnostic need in Africa. The recent prevalence of CHD in Asia for the first time appears higher than in Europe and America, where disease ascertainment is likely to be near-complete, suggesting higher genetic or environmental susceptibility to CHD among Asian people.
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            Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017

            (2020)
            Summary Background Previous congenital heart disease estimates came from few data sources, were geographically narrow, and did not evaluate congenital heart disease throughout the life course. Completed as part of the Global Burden of Diseases, Injuries, and Risk Factors Study 2017, this study aimed to provide comprehensive estimates of congenital heart disease mortality, prevalence, and disability by age for 195 countries and territories from 1990 to 2017. Methods Mortality estimates were generated for aggregate congenital heart disease and non-fatal estimates for five subcategories (single ventricle and single ventricle pathway congenital heart anomalies; severe congenital heart anomalies excluding single ventricle heart defects; critical malformations of great vessels, congenital valvular heart disease, and patent ductus arteriosus; ventricular septal defect and atrial septal defect; and other congenital heart anomalies), for 1990 through to 2017. All available global data were systematically analysed to generate congenital heart disease mortality estimates (using Cause of Death Ensemble modelling) and prevalence estimates (DisMod-MR 2·1). Systematic literature reviews of all types of congenital anomalies to capture information on prevalence, associated mortality, and long-term health outcomes on congenital heart disease informed subsequent disability estimates. Findings Congenital heart disease caused 261 247 deaths (95% uncertainty interval 216 567–308 159) globally in 2017, a 34·5% decline from 1990, with 180 624 deaths (146 825–214 178) being among infants (aged <1 years). Congenital heart disease mortality rates declined with increasing Socio-demographic Index (SDI); most deaths occurred in countries in the low and low-middle SDI quintiles. The prevalence rates of congenital heart disease at birth changed little temporally or by SDI, resulting in 11 998 283 (10 958 658–13 123 888) people living with congenital heart disease globally, an 18·7% increase from 1990 to 2017, and causing a total of 589 479 (287 200–973 359) years lived with disability. Interpretation Congenital heart disease is a large, rapidly emerging global problem in child health. Without the ability to substantially alter the prevalence of congenital heart disease, interventions and resources must be used to improve survival and quality of life. Our findings highlight the large global inequities in congenital heart disease and can serve as a starting point for policy changes to improve screening, treatment, and data collection. Funding Bill & Melinda Gates Foundation.
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              Prevalence of congenital heart disease.

              Today most patients with congenital heart disease survive childhood to be cared for by adult cardiologists. The number of physicians that should be trained to manage these lesions is unknown because we do not know the number of patients. To answer this question, the expected numbers of infants with each major type of congenital heart defect born in each 5-year period since 1940 were estimated from birth rates and incidence. The numbers expected to survive with or without treatment were estimated from data on natural history and the results of treatment. Finally, lesions were categorized as simple, moderate, or complex, based on the amount of expertise in management needed for optimal patient care. From 1940 to 2002, about 1 million patients with simple lesions, and half that number each with moderate and complex lesions, were born in the United States. If all were treated, there would be 750,000 survivors with simple lesions, 400,000 with moderate lesions, and 180,000 with complex lesions; in addition, there would be 3,000,000 subjects alive with bicuspid aortic valves. Without treatment, the survival in each group would be 400,000, 220,000, and 30,000, respectively. The actual numbers surviving will be between these 2 sets of estimates. Survival of patients with congenital heart disease, treated or untreated, is expected to produce large numbers of adults with congenital disease, and it is likely that many more adult cardiologists will need to be trained to manage moderate and complex congenital lesions.
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                Author and article information

                Contributors
                lushan_sd@njmu.edu.cn
                Journal
                BMC Public Health
                BMC Public Health
                BMC Public Health
                BioMed Central (London )
                1471-2458
                10 February 2025
                10 February 2025
                2025
                : 25
                : 552
                Affiliations
                [1 ]Department of Maternity and Child, First Affiliated Hospital of Nanjing Medical University, ( https://ror.org/04py1g812) No. 300 Guangzhou Road, Nanjing, 210029 China
                [2 ]Department of Cardiothoracic and Vascular Surgery, First Affiliated Hospital of Nanjing Medical University, ( https://ror.org/04py1g812) Nanjing, China
                [3 ]Second Affiliated Hospital of Nanjing Medical University, ( https://ror.org/04pge2a40) Nanjing, China
                Article
                21698
                10.1186/s12889-025-21698-4
                11812251
                39930425
                ef948b30-2edd-45ba-a00d-07c840bc8358
                © The Author(s) 2025

                Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

                History
                : 8 August 2024
                : 30 January 2025
                Funding
                Funded by: Social Development Plan of the Provincial Department of Science and Technology
                Award ID: BE2023781
                Categories
                Research
                Custom metadata
                © BioMed Central Ltd., part of Springer Nature 2025

                Public health
                congenital heart disease,real-world data,newborn screening program,joinpoint regression,temporal pattern

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