Congenital Heart Disease Screening and Epidemiology

Congenital heart disease (CHD) encompasses a spectrum of structural cardiac malformations present at birth, representing the most common category of congenital anomalies worldwide. Epidemiological analyses have documented a steady global prevalence of around 8–10 per 1,000 live births, with considerable regional variation driven by genetic, environmental and socio-demographic factors. Mortality attributable to CHD has declined substantially over recent decades in high‐resource settings, reflecting advances in diagnostic imaging, surgical and catheter‐based interventions, and comprehensive care pathways. Nonetheless, disparities persist: low‐ and middle‐income regions shoulder a disproportionately high burden of both incidence and mortality, often linked to delayed diagnosis and limited access to specialised services. Screening strategies span prenatal ultrasonography and foetal echocardiography, neonatal pulse oximetry for detection of critical lesions, and structured follow-up for at-risk populations. Integration of robust surveillance systems and standardised reporting frameworks has improved case ascertainment and facilitated longitudinal tracking of outcomes, thereby informing public health initiatives, resource allocation and health policy aimed at reducing inequities in CHD care.

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Congenital Heart Disease Screening and Epidemiology publication trend

The graph below shows the total number of articles in congenital heart disease screening and epidemiology across all publications each year (not limited to Nature Index journals).

Technical terms

Congenital heart disease (CHD): Structural cardiac abnormalities present at birth, ranging from simple septal defects to complex malformations.

Critical congenital heart disease (CCHD): Subset of CHD requiring surgical or catheter intervention within the first year of life to prevent morbidity or mortality.

Ventricular septal defect (VSD): An opening in the interventricular septum allowing abnormal blood flow between the heart’s lower chambers.

Tetralogy of Fallot: A complex CHD comprising four anatomical defects: VSD, pulmonary stenosis, right ventricular hypertrophy and an overriding aorta.

Socio-demographic Index (SDI): Composite measure of national income per capita, educational attainment and fertility rates, used to stratify health outcomes.

References

1. Incidence, distribution, disease spectrum, and genetic deficits of congenital heart defects in China: implementation of prenatal ultrasound screening identified 18,171 affected fetuses from 2,452,249 pregnancies. Cell & Bioscience (2023).
2. Global, regional, and national burden of congenital heart disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017. The Lancet Child & Adolescent Health (2020).
3. Global, regional, and national time trends in mortality for congenital heart disease, 1990–2019: An age-period-cohort analysis for the Global Burden of Disease 2019 study. EClinicalMedicine (2022).
4. Actions in Support of Newborn Screening for Critical Congenital Heart Disease — United States, 2011–2018. MMWR Morbidity and Mortality Weekly Report (2019).