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Posted at: Aug 3, 2019, 9:22 AM; last updated: Aug 3, 2019, 9:22 AM (IST)

Look into your baby’s heart

Prenatal screening can minimise the risk of congenital heart disease among newborns

Dr Kishore Kumar

Every year in India, six to eight out of every 1000 children are born with congenital heart disease (CHD). This amounts to 1,80,000 children born annually with structural or functional heart defects that are present from birth. At least one-third of these children need interventions before their first year. If not treated, some critical congenital heart diseases can lead to death. This accounts for 10 per cent of infant mortality. 

Thirteen different heart diseases together are referred to as CHD. These are caused by defects in major blood vessels or the heart itself. These defects emerge around week 5 of a pregnancy when the foetal heart is developing. 

Potential reasons

There are several factors that can increase the risk of a child being born with CHD such as genetics, a mother with diabetes, excessive alcohol consumption during pregnancy, if a would-be mom contracts rubella or unknowingly takes medicine that harms the foetus. 

To some extent, the risk of CHD can be reduced by improving maternal nutrition, routine immunisation, and avoiding teratogenic drugs/agents. These are substances that can cause an abnormality if the foetus is exposed to these during pregnancy. These include radiation, maternal infections, chemicals and drugs. Most of the times, however, there is no obvious cause of CHD. This makes prompt diagnosis an important determinant in reducing the related mortality and morbidity.


Signs and symptoms

Serious congenital heart defects usually become evident soon after birth. Signs and symptoms could include:
  • Pale grey or blue skin colour (cyanosis)
  • Fast breathing or grunting when breathing
  • Flared nostrils
  • Swelling in the legs, abdomen or areas around the eyes
  • Shortness of breath during feeding, leading to poor weight gain

Earlier diagnosis can save lives 

Children born with CHD often have no obvious symptoms, which makes screening for CHD quite important. It can be detected after birth with clinical examination and pulse oximetry, a painless test to evaluate the baby’s pulse and oxygen levels in the blood. A low oxygen level could indicate CHD. Many developed countries have made it mandatory to screen for CHD at birth. In India, the government, recognising this need, has launched Rashtriya Bal Swasthya Karyakram (RBSK). This new initiative aims at early identification  and  early  intervention  for  children  from  birth  to  18  years to cover 4 ‘D’s viz. defects at  birth,  deficiencies,  diseases,  development  delays  including  disability. This programme will also carry out screening of new born babies, referral and free treatment for 30 different diseases, including CHD.

Prenatal screening

Screening and diagnosis can also be done prenatally, that is, before birth. Echocardiography, a ultrasound technique (does not use radiation), enables doctors to detect CHD in the womb. 

Many hospitals and maternity centres in India have echocardiography instruments that can detect CHD around the 20th to 24th week of pregnancy, when anomaly scans are done.

Unfortunately in India, CHD is often not diagnosed early and many children with serious CHD die before they receive any intervention. Other children progress to adulthood with uncorrected heart defects that require intervention later. 

Types of heart defects

There are many different types of congenital heart defects, falling mainly into these categories:

Holes in the heart: Holes can form in the walls between heart chambers or between major blood vessels leaving the heart. These holes allow oxygen-rich and oxygen-poor blood to mix. If the holes are large and a lot of blood is mixed, the blood that ends up being circulated through your child’s body is not carrying as much oxygen as it normally should.

Not having enough oxygen in the body can cause your child’s skin or fingernails to appear blue. The baby may also develop signs of congestive heart failure, such as shortness of breath, irritability and leg swelling, because both oxygen-rich and oxygen-poor blood are flooding the lungs. Obstructed blood flow: When blood vessels or heart valves are narrow because of a heart defect, the heart has to work harder to pump blood through the vessels. Among the most common of this type of defect is pulmonary stenosis. This condition occurs when the valve that allows blood to pass from the right ventricle to the lungs via the pulmonary artery is too narrow to function properly. Abnormal blood vessels: Several congenital heart defects happen when blood vessels going to and from the heart don’t form correctly, or they’re not positioned the way they’re supposed to be.

Heart valve abnormalities: If the heart valves can’t open and close correctly, blood can’t flow smoothly.

Studies on some cardiac defects have shown that babies with congenital defects had better outcomes if their condition was diagnosed before birth. If CHD is detected in a foetus, doctors can counsel parents and help them prepare for possible outcomes and surgical interventions. In a few cases, foetal cardiac interventions could help improve prognosis. In others, a prenatal diagnosis of CHD can prompt parents to choose a hospital with good paediatric cardiac facilities for delivery, thus avoiding the logistical nightmare of having to transport a critically ill new born to another facility for treatment.

Many CHDs that were once considered untreatable can now be managed with suitable interventions, as long as diagnosis is prompt. Each of the diseases has a different medical and/or surgical route of management, carried out at different ages, depending on the condition.  

Medical and technological advances in the last 60 years have ensured that more than 75 per cent of children with critical CHD can live well past their first birthday to adolescence and adulthood. Prenatal use of ultrasound and echocardiography offers parents the time they need to make crucial decisions regarding the place of birth and interventions for their baby giving their child the best chance at a near normal life. 

— The writer is founder chairman and neonatologist, Cloudnine Group of Hospitals, Bengaluru

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