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Updated: May 28, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
How do we define congenital heart defects for scientific studies?
Ester Garne1, Morten Smaerup Olsen, Søren Paaske Johnsen
1Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.ester.garne@slb.regionsyddanmark.dk
Insights
Estimates of congenital heart defect (CHD) prevalence vary due to differing definitions. This study refines CHD definitions, including patent ductus arteriosus and atrial septal defects, to improve data accuracy for research and public health.
Area of Science:
- Cardiology
- Pediatrics
- Public Health
Background:
- Prevalence estimates for congenital heart defects (CHD) vary significantly due to inconsistent case definitions.
- The increasing use of echocardiography in neonatal care can lead to the overdiagnosis of CHD, inflating prevalence rates.
- Accurate CHD prevalence data are crucial for etiological research, treatment planning, and outcome studies.
Purpose of the Study:
- To address the variability in published CHD prevalence estimates.
- To refine the definition of CHD cases for epidemiological studies.
- To improve the validity and comparability of CHD research.
Main Methods:
- Utilized data from the Danish Register of Congenital Heart Disease, based on hospital discharge and outpatient diagnoses.
- Conducted extensive data cleaning through record review and analysis of discharge coding practices.
- Defined patent ductus arteriosus (PDA) and atrial septal defects as CHD only if they remain open 2 months post-birth.
Main Results:
- The study highlights the impact of diagnostic criteria on CHD prevalence estimates.
- A refined definition, excluding transient findings like PDA in neonates unless persistent, was applied.
- Data cleaning and standardized definitions enhance the reliability of epidemiological findings.
Conclusions:
- International consensus on CHD definitions is essential for accurate and comparable epidemiological studies.
- Standardized definitions improve the utility of CHD registries for research and healthcare planning.
- Refined case definitions lead to more precise understanding of CHD prevalence and outcomes.
Abstract:
Estimates of the prevalence of congenital heart defects (CHD) have been published over many years and from many regions. As they are based on different definitions of which cases to include in the CHD prevalence, published prevalence estimates vary substantially. With the increasing use of echocardiography in neonatal intensive care, a patent ductus arteriosus (PDA) or flow over the atrial septum will often be visible. These findings may be coded as CHD at discharge and in this way falsely increase the CHD prevalence in the population. There are several purposes for which population-based data on CHD may be used: etiology, planning of treatment, or obtain information on outcome, including mortality. For etiology studies, it is important to include terminations of pregnancy as well as all births with CHD. For mortality studies in live births, inclusion of preterm born infants with PDA will increase overall mortality of CHD. The Danish Register of Congenital Heart Disease is based on hospital discharge diagnoses and diagnoses from outpatient visits. To increase the validity of these data, extensive data cleaning has been carried out based on record review and knowledge on the discharge coding practice. We include PDA and atrial septal defects as CHD cases if these defects are still open 2 months after birth. International consensus on how to define CHD would improve the validity and comparability of epidemiological studies on CHD.
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