The importance of timey diagnoses is treating a child with a CHD

An accurate and timely diagnosis has become critical in changing the long-term outcome for many conditions. This can be cancer, heart conditions, neurological conditions like autism in children, a diagnosis made on time enables one to undertake proactive steps and seek the right medical advice and treatment to ensure a better outcome. 

When it comes to congenital heart defects (CHDs) also known as hole in heart by birth, the situation is also not so different. There was a time when a diagnosis of a congenital heart defect would have meant a death sentence- that is not the case anymore. In most cases CHDs can be treated, timely diagnosis being the key. 

According to the World Health Organization (WHO), adverse perinatal outcomes and birth defects are responsible for the loss of 15 million years of healthy life due to premature death and disability. If these are diagnosed on time, there can be a significant improvement in infant mortality and morbidity. 

Congenital heart defects affect the structure of a child’s heart. Congenital heart defects (CHDs) are of different types. Most critical types of CHD can be recognised and diagnosed during the prenatal or neonatal stage. But the not so critical defects may not surface until later leading to a delay in the onset of interventions. 

While medical advancements have significantly improved treatment outcomes, the successful treatment is dependent on a timely diagnosis. Where the diagnosis is done on time, the child has a greater chance to live a near normal life. In situations where the diagnosis is delayed or not made, the child can face adverse developmental consequences, including death. Some of the problems that surface due to a delayed diagnosis are:

Problems Due to A Delayed Diagnosis

- A delay in the diagnosis of a critical heart defect can lead to a sudden death.

- In some cases the diagnosis maybe made too late, making the child inoperable. According to an interview (link to https://www.genesis-foundation.net/blog/putting-the-spotlight-on-the-causes-and-importance-of-timely-diagnosis-of-congenital-heart-defects-in-conversation-with-dr-swati-garekar/)  by Dr Swati Garekar, a leading pediatric cardiologist in Fortis Mulund, with the major heart defects one important implication is that there may be a high pressure in the lung (pulmonary) arteries. Over time this causes the arteries to thicken and cause the bad kind of pulmonary hypertension. This makes the condition irreversible and inoperable.

- A child who has not been diagnosed will not be treated. Hence this child will remain week, will not be able to grow and develop at age appropriate levels and miss out the opportunity of a normal growth. 

- In most cases a single intervention can heal the child for life. Hence diagnosis he defect becomes even more critical against this scenario. 

The above points have well established the importance of a timely diagnosis. However this continues to remain a challenge for many reasons: 

Challenges in Diagnosing a Congenital Heart Defect: 

- While the symptoms of critical defects will show up either during pregnancy, at birth or during early childhood, those of milder defects are not diagnosed or show up much later. 

- Lack of awareness: many health care providers especially those working ta the grassroot level in developing countries are not aware of the symptoms of a CHD and very often mistake it with other respiratory conditions leading to a delayed diagnosis. 

- Lack of infrastructure: In many developed countries newborn screening especially using  a pulse oximeter has been adopted. Pulse oximeters like the ones used during the CIOVID pandemic are non invasive tests that measure oxygen saturation levels in the baby. The saturation levels are an important indicator of a potential congenital heart defect. In many countries this has been adopted as a standard testing tool leading to many children being diagnosed and hence treated on time. This however has yet to become a norm in many countries including India. 

- The screening of CHD using an Echo machine is limited in India especially when it comes to the rural and grassroot level places. 

However, with NGOs stepping in and extending a helping hand to underprivileged kids, there has been significant relief for families who were previously seeking assistance to save their children’s lives. NGOs for child heart surgery have helped many families with timely intervention which has resulted in successful surgeries for their children. 

The importance of Timely Diagnosis of a CHD:

Timely diagnosis enables one to seek medical care on time. In situations where the defect is picked up during pregnancy the neonatologist and the entire medical team is prepared for the birth of a baby born with a congenital heart defect. They can thus develop a comprehensive plan and ensure that the baby is born safely and that he receives the right treatment. 

In cases where the defect is picked by at birth or in the first few months, the doctors are able to undertake the right interventions ensuring that the child is able to grow and lead a near normal life. As in most conditions that exist today, a diagnosis on time will ensure that the right medical help is sought on time and hence completely changes the prognosis of the child. 

Read more about the importance of a timely diagnosis of a CHD: https://www.genesis-foundation.net/blog/putting-the-spotlight-on-the-causes-and-importance-of-timely-diagnosis-of-congenital-heart-defects-in-conversation-with-dr-swati-garekar/

References

Murni IK, Wirawan MT, Patmasari L, Sativa ER, Arafuri N, Nugroho S, Noormanto. Delayed diagnosis in children with congenital heart disease: a mixed-method study. BMC Pediatr. 2021 Apr 21;21(1):191. doi: 10.1186/s12887-021-02667-3. PMID: 33882901; PMCID: PMC8059230.