Common Newborn Screening Tests Conducted

1. Metabolic Disorder Screening (Heel Prick Test): The heel prick test is one of the most important screenings conducted. A tiny blood sample is taken from your baby’s heel and tested for a range of metabolic disorders. These disorders affect how the body processes food and converts it into energy. If left undetected, these conditions can lead to developmental delays, brain damage, or even life-threatening complications.

Conditions Tested in the Heel Prick Test Include

Congenital Hypothyroidism: Affects approximately 1 in 2,500 to 3,000 newborns in India. The thyroid gland doesn’t produce enough hormones, which are essential for brain development and growth. Early detection and treatment can prevent mental and physical developmental delays.

Phenylketonuria (PKU): PKU is a metabolic disorder where the body can’t break down an amino acid called phenylalanine. This can lead to brain damage if untreated. PKU is rare, affecting 1 in 10,000 to 15,000 newborns globally, but early treatment with a special diet can prevent complications.

Galactosemia: A rare genetic disorder in which the baby cannot process galactose (a type of sugar found in milk). If left untreated, it can lead to liver damage, developmental delays, and even death. Galactosemia affects 1 in 30,000 to 60,000 newborns.

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: More common in certain ethnic groups such as Sindhis and Punjabis in India, G6PD deficiency can cause severe anemia in response to certain foods, infections, or medications. The incidence varies but can be as high as 1 in 10 in certain populations.

How the Heel Prick Test Is Done?

A small lancet is used to prick your baby’s heel, and a few drops of blood are collected on special filter paper. This process takes only a few seconds and may cause minimal discomfort. The blood is then sent to a laboratory for analysis.

When Will You Get the Results?

Results from the heel prick test are usually available within 3 to 5 days. At The Children’s Hospital, Mumbai, we ensure that you receive these results promptly, either through email or direct communication from your pediatrician.

2. Hearing Screening:
Hearing loss affects approximately 3 to 5 out of every 1,000 newborns in India. This painless test uses tiny microphones to check how your baby responds to sound. Early detection of hearing loss can lead to timely interventions, reducing the risk of speech and developmental delays.

3. Critical Congenital Heart Disease (CCHD) Screening:
Congenital heart defects occur in about 1 in every 100 babies globally, with many cases detected through a simple, non-invasive pulse oximetry test. The test measures oxygen levels in your baby’s blood, which can indicate underlying heart problems that may not be immediately obvious. Early diagnosis and treatment can prevent life-threatening complications.

Importance of Early Detection

Many of the conditions screened for in newborn tests, like congenital hypothyroidism or phenylketonuria, are manageable with early treatment. For example, hypothyroidism, if untreated, can lead to cognitive disabilities, but starting hormone replacement therapy within the first few weeks of life can completely prevent these outcomes.

Similarly, metabolic disorders like galactosemia or G6PD deficiency can lead to severe complications like liver damage or anemia if dietary changes or precautions are not followed. Early detection through newborn screening allows for these preventive measures to be taken, ensuring your child grows up healthy.

What Happens if the Test Results Are Abnormal?

If one of the screening tests comes back abnormal, this doesn’t necessarily mean your baby has the condition. It means further *confirmatory tests* are needed to rule out or diagnose the disorder. Your pediatrician will discuss the next steps, and if a diagnosis is confirmed, a treatment plan will be created, involving specialists if necessary. Early intervention can significantly reduce or eliminate potential complications.

Newborn screening tests are a simple, yet vital part of ensuring your baby’s long-term health. They allow early detection of serious, often invisible conditions that can be treated or managed effectively if caught in time. At The Children’s Hospital, Mumbai, we prioritize your baby’s well-being, offering comprehensive newborn screening and expert follow-up care.

To schedule your newborn’s screening or learn more, visit The Children's Hospital, Mumbai or speak with one of our pediatric specialists today.

Simply Call us on: 9324394702 / 8976085869 / 022- 40116860 /65/41/47