How Is a Congenital Heart Defect Diagnosed?

Nobody checks the heart unless they have a reason to. That’s often the problem. Some defects get found during pregnancy, when a detailed scan picks up something structural before a baby is even born. Others only surface after delivery, once a routine screen flags low oxygen, or a murmur shows up at a first physical check. How congenital heart defect diagnosis works depends on what the defect is and whether it causes visible signs early on. One type doesn’t look anything like another. Some need an echocardiogram to pin down. Others read clearly on a bedside oxygen test the morning after birth. The diagnostic window stretches from well before delivery through the first months of life. No single test covers all of it.

According to doctors at Sparsh Children’s pediatric hospital in Parel, “Some of the most significant heart defects are picked up before delivery, others after. But the ones that get missed are usually the ones where no one looked systematically. A normal delivery doesn’t mean the heart has been cleared.”

What Signs Prompt a Congenital Heart Defect Diagnosis in Babies?

No one test catches every defect. Different tools are used at different points, and skipping one means something might slip through.

Fetal echocardiogram: A scan done specifically on the baby’s heart, usually somewhere between 18 and 22 weeks of pregnancy. It’s ordered when a routine anomaly scan raises a concern, or when there’s a family history of heart defects. The detail it gives on the heart’s structure is far beyond what a standard pregnancy ultrasound shows.
Routine anomaly scan during pregnancy: The mid-trimester scan includes a basic look at the heart. It won’t find everything. But the more obvious structural problems tend to show up here, and higher-risk cases get flagged for a closer examination.
Pulse oximetry newborn screening: A small sensor on the baby’s skin reads blood oxygen levels after birth. A reading that comes back low before discharge is one of the most reliable early signs that blood flow through the heart is being restricted somehow.
Physical examination and echocardiogram after birth: A murmur through a stethoscope is often the first thing that sends a doctor toward imaging. An echocardiogram then maps what’s actually going on inside the heart and shapes whatever comes next.

Sparsh’s pediatric cardiology team carries out echocardiography and full cardiac assessment on-site for newborns and older children.

When Should Recurrent Fever in Children Be Investigated?

Not every CHD announces itself in a scan. Some come to light through what a parent notices, or what a doctor picks up at a routine check in the first few weeks.

Bluish tint to the lips or skin: When blood isn’t carrying enough oxygen, it shows up in the skin tone first, usually around the lips and the body. Spotted at or shortly after birth, it usually prompts a cardiac evaluation without delay. Not something that waits for the next routine appointment.
Rapid or laboured breathing that doesn’t settle: A baby breathing too fast, or working noticeably hard through feeds, may have a heart that’s compensating for something. It doesn’t always look dramatic from the outside. Consistent enough to raise a flag, though.
A heart murmur picked up at examination: Murmurs don’t always mean something serious. An abnormal one at a newborn check, on the other hand, leads to imaging. That’s often how a septal defect or valve problem first comes to light.
Poor feeding and unexplained slow weight gain: A baby who tires mid-feed, takes far longer than expected, or fails to gain weight despite regular nursing may be showing reduced cardiac output in the only way a newborn can. Parents often mention the feeding difficulty before anything else.

The blog on heart problem signs in a child covers these patterns in more detail for parents watching for signs beyond the newborn period.

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Why Choose Sparsh Children's Hospital?

Sparsh Children’s Hospital has a pediatric cardiology unit where echocardiography, pulse oximetry, and specialist review sit in the same place. A newborn flagged after birth doesn’t get referred elsewhere for imaging. The scan happens here. Results go to a cardiologist the same day, and a plan follows directly from that.
Children with a confirmed diagnosis who need ongoing monitoring don’t fall between appointments. Defects that close on their own are watched over time. Those needing intervention are managed with NICU and PICU backup in the same building. Not arranged as a transfer somewhere else.