The Importance of Newborn Screening Tests: What Parents Should Know

Newborn screening is a routine medical procedure carried out in the first two days after birth to check for a range of rare but serious conditions. These tests help detect potential health issues before symptoms appear, enabling early medical support. While most babies are healthy, screening ensures that no underlying condition goes unnoticed during this critical stage. To know what screening tests is, their types and why it’s done, keep reading.

What is a Newborn Screening Test?

A newborn screening test is a medical check-up done soon after a baby is born to look for rare but serious health conditions. These conditions may not show any symptoms right away but could affect the baby’s development or health later.

Newborn screening is usually done within the first 24 to 48 hours after birth. It includes a small blood test, a hearing test, and a check for oxygen levels. These tests are simple and safe and are often done before the baby leaves the hospital.

Why are Newborn Screening Tests Important?

Some of the conditions these tests help diagnose are-

1. Congenital Hypothyroidism– This condition happens when the thyroid gland does not produce enough hormones. If not treated, it can lead to poor growth and intellectual disability.
2. Sickle Cell Disease– This inherited blood disorder affects how red blood cells carry oxygen. It can cause anaemia, infections, and pain.
3. Cystic Fibrosis– This genetic condition affects the digestive system and lungs, causing mucus to become sticky and thick.
4. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)- Babies with this condition cannot break down certain fats for energy. If not diagnosed, it can lead to low blood sugar, seizures, or even sudden death.
5. Severe Combined Immunodeficiency (SCID)– Sometimes called “bubble boy disease,” babies with SCID have little or no immune system and are highly vulnerable to infections. Early treatment, such as a bone marrow transplant, can save their life.
6. Congenital Heart Defects– Oxygen level tests can help identify serious heart problems like critical congenital heart disease (CCHD), which may not be visible immediately after birth.

What are the Types of Newborn Tests?

These tests include-

1. Blood test – Commonly known as the heel prick test, this involves collecting a few drops of blood from the baby’s heel. The sample is sent to a lab to check for various genetic, metabolic, and hormonal conditions, including hypothyroidism, phenylketonuria (PKU), and sickle cell disease.
2. Hearing tests – Hearing loss is common in newborns and can affect speech and language development if not addressed early. Two types of tests are commonly used:
3. Automated Otoacoustic Emission (AOAE) test –  This checks whether the ears are responding to sounds. A small earpiece is placed in the baby’s ear, which sends soft clicking sounds. If the inner ear is working properly, it will produce an echo that is recorded.
4. Automated Auditory Brainstem Response (AABR) test – This test measures how the baby’s hearing nerves, and brain respond to sound. Soft sounds are played through earphones while small sensors on the baby’s head record the brain’s response.
5. Test for oxygen level – This is called pulse oximetry. A small sensor is placed on the baby’s hand or foot to measure the oxygen level in the blood. This test helps identify critical heart problems that may not be visible at birth but can cause issues if left untreated.

What to Expect From NBS Test Results?

Here’s what the test results typically mean.

1. Newborn blood test results – The NBS test results usually arrive within two weeks. A negative result means the baby is not at increased risk for conditions tested, like cystic fibrosis or sickle cell disease. A positive result suggests a higher chance that the baby may have one of these conditions and may need further testing.
2. Hearing test results – These test results are shared immediately. If the baby passes the test, no further action is needed. If the baby does not pass, it does not always mean there is a hearing problem. It could be due to temporary reasons like fluid in the ear.
3. Oxygen level test results – The test results are also available right away. If the oxygen level is lower than normal, the baby may need additional checks, such as an ultrasound of the heart or further monitoring.

Newborn screening tests are a small but essential part of a baby’s first days. They help detect conditions that can be treated effectively when found early. Without these tests, a baby with a hidden health issue might not get help in time, which can affect their development or lead to serious complications. To book newborn tests, download the Dr Lal PathLabs app now!

FAQs

What are normal CRP levels in newborns?
In healthy newborns, C-reactive protein (CRP) levels are usually below 1 mg per decilitre. However, levels may be slightly higher in the first couple of days after birth and should be interpreted by a doctor based on clinical signs.

What is the normal newborn platelet count?
A normal platelet count in newborns ranges between 150,000/mcL and 450,000/mcL.