Diagnosis of Congenital Heart Disease
Diagnosis of congenital heart disease can take place before birth, shortly after birth, or during childhood or adulthood. The timing depends on the severity of the condition and the availability of screening tools. Doctors often identify congenital heart disease early thanks to modern technology. Allowing for better treatment planning.
Prenatal Diagnosis
Doctors can detect fetal anomalies during routine ultrasounds between 18 and 22 weeks of pregnancy. Doctors evaluate suspected heart defects with a fetal echocardiogram. A specialised ultrasound that provides detailed images of the baby’s heart. Early diagnosis helps plan for delivery in a facility equipped to handle high-risk newborns.
Postnatal Screening
Doctors typically assess newborns using a physical exam and oxygen saturation testing (pulse oximetry). Additionally, in some cases, echocardiography if symptoms like cyanosis or breathing difficulty arise.
Diagnostic Tests
Echocardiogram – A key tool for visualising heart structure and function
Electrocardiogram (ECG) – Measures the heart’s electrical activity
Chest X-ray – Shows heart size and lung condition
Cardiac MRI or CT scan – Provides detailed images in complex cases
Cardiac catheterisation – Invasive procedure used to assess blood flow and pressures inside the heart chambers
Genetic Testing
If congenital heart disease is suspected to be part of a genetic syndrome, genetic testing or chromosomal analysis may be recommended.
Adult Diagnosis | Diagnosis of Congenital Heart Disease
Some individuals live for years without symptoms. In adults, congenital heart disease may be discovered during evaluation for fatigue, shortness of breath, or abnormal ECG findings.
Early and accurate diagnosis of congenital heart disease is crucial for planning treatment, reducing complications, and ensuring the best quality of life. Lifelong monitoring is often necessary, even for those with corrected defects.
[Next: Treatment of Congenital Heart Disease →]


