The Importance of Prenatal Screening and Early Diagnosis of Congenital Heart Disease (CHD)

Congenital heart disease (CHD) is one of the most common congenital disabilities, ​​affecting nearly ​​1 in 100 newborns worldwide according to the Centres for Disease Control and Prevention. While certain cases are less severe and may not need significant treatment, others are severe and may need urgent medical care or surgical correction.  

​​​Early diagnosis of congenital heart disease (CHD) enables prompt medical intervention and provides parents with the opportunity to plan and make educated decisions regarding their child’s care. This highlights the importance of prenatal screening in detecting CHD early and ensuring timely medical intervention. 

What is congenital heart disease (CHD)? 

Congenital Heart Disease (CHD) refers to structural abnormalities in the heart that develop during foetal growth. These defects can range from simple issues, such as small holes in the heart (atrial or ventricular septal defects), to complex conditions, such as hypoplastic left heart syndrome (HLHS) or transposition of the great arteries (TGA). 

If left undiagnosed, severe CHDs can lead to life-threatening complications, including heart failure, oxygen deprivation, and developmental delays. In extreme cases, infants may not survive without immediate medical intervention after birth. ​     ​ 

 What Causes Congenital Heart Disease (CHD)? 

The exact cause of CHD is unknown, but several factors may contribute:

1. Genetics: A family history of heart defects can increase the likelihood of CHD.

2. Maternal health: Conditions such as diabetes, obesity, or infections during pregnancy may contribute to the development of CHD in the baby.

3. Medications and substances: Exposure to certain drugs, alcohol, or tobacco during pregnancy can interfere with foetal heart development, leading to CHD.

4. Environmental factors: Exposure to harmful chemicals, pollutants, or radiation during pregnancy may also play a role in increasing the risk of CHD.

Know more about risk factor of heart disease  

What are the Symptoms of Congenital Heart Disease (CHD)?  

Congenital Heart Disease (CHD) symptoms vary based on the type of defect. Common signs include:

1. ​​​Bluish tint to the lips, skin, or nails, indicating low oxygen levels (Cyanosis)
2. Difficult or rapid breathing
3. Fatigue or poor feeding
4. An abnormal sound heard through a stethoscope, often indicative of a heart defect (Heart murmurs). 

 What are the Tests for Congenital Heart Disease (CHD)? 

Prenatal screening for CHD typically involves ultrasound scans and fetal echocardiography. These tests help in the early identification of structural abnormalities, allowing doctors to assess the severity of the defect and plan necessary interventions.

First-Trimester Ultrasound (Nuchal Translucency Scan)

1. Conducted between 11–14 weeks of pregnancy.
2. Measures the thickness of the nuchal translucency (fluid at the back of the baby’s neck).
3. An increased measurement may indicate a higher risk of CHD, prompting further testing. 

Anomaly Scan (Mid-Trimester Ultrasound)

1. Performed between 18–22 weeks of pregnancy.
2. Provides a detailed view of the baby’s organs, including the heart.
3. Helps in detecting major heart defects but may not identify all CHDs. 

Fetal Echocardiography

1. A specialized ultrasound performed around 18–24 weeks for high-risk pregnancies.
2. Offers a detailed evaluation of the heart’s structure and function.
3. Recommended for women with a family history of CHD, maternal diabetes, chromosomal abnormalities, or abnormal ultrasound findings. 

Why Early Diagnosis Matters? 

Some of the critical reasons why early diagnosis of CHD is crucial include:

​​​1. Better Preparedness for Birth 

Early detection of CHD allows healthcare providers to prepare for the baby’s arrival. Specialized hospitals with paediatric cardiologists and neonatal experts can be arranged to ensure immediate care if needed, improving outcomes for babies with severe CHD.

2. Early Intervention and Treatment

Some Congenital Heart Disease (CHD) conditions require early surgery or medical treatment. Defects like aortic stenosis or transposition of the great arteries may need surgery shortly after birth. Early diagnosis enables doctors to plan interventions ahead of time, reducing complications and improving survival rates.

3. Reduced Risk of Complications

Left untreated, CHD can lead to complications such as low oxygen levels, affecting growth and overall health. Early diagnosis of CHD helps minimize these risks, allowing timely interventions stabilizing the baby and promoting proper development.

4. Informed Decision-Making for Parents

Prenatal screening helps parents make informed decisions about treatment options and care plans. Early diagnosis provides clarity on surgery or medication choices and allows for genetic counselling, reducing anxiety and empowering parents to make the best choices.

5. Improved Long-Term Outcomes

Early treatment significantly improves long-term outcomes, reducing developmental delays or physical impairments. Many children with CHD can lead healthy lives with proper care and monitoring, preventing serious health issues. 

Although not all heart defects can be detected through prenatal screening, advancements in diagnostic technology continue to improve the accuracy of detection. For a comprehensive heart health assessment, consult a doctor and schedule a heart test with Dr. Lal PathLabs. 

FAQs 

1. What is the early diagnosis of congenital heart disease?

Early diagnosis of CHD detects heart defects before or shortly after birth for timely treatment. 

2. What is the screening test for congenital heart disease?

​​​Screening for congenital heart disease includes fetal and postnatal echocardiograms, pulse oximetry in newborns, and additional tests like ECG, chest X-rays, or genetic testing, depending on clinical indications and risk factors.