Newborn Screening Tests: A Step-by-Step Guide For New Parents

Congratulations parents on welcoming your little bundle of joy! Bringing a new life into the world can feel overwhelming. You must be overjoyed and, at the same time, anxious and uncertain- all at once. One challenge many new parents may experience is understanding newborn screening tests. These tests are simple but vital in protecting the health of newborns. This detailed guide will help you navigate what to expect, the types of tests available, and the implications for your baby’s well-being.

What Is Newborn Screening?

Newborn screening is a public health program. It consists of a set of tests for newborn babies that screens for certain genetic, metabolic, and congenital disorders. The purpose of newborn screening is to identify babies who may have a serious medical condition, early on. This helps them receive early medical treatment and intervention to prevent or reduce long-term health problems. ^{1 2}

When Is It Done?

Newborn screening is usually performed in the first few days of life, typically between 24 and 48 hours after birth. The test is carried out in hospitals or birthing centres, and the results are available within a few days. ³

Newborn Screening: How Is It Done?

There are three parts to newborn screening: 

1. Blood Test

Healthcare providers conduct most newborn screenings with blood tests to detect rare yet serious health conditions. Your baby's heel is pricked to collect a few drops of blood, which is then placed on a special paper. Next, the blood sample is sent to a lab for testing. Laboratories typically process the blood test results within 5 to 7 days of your baby's birth. If you have questions about the timeframe for sending blood samples to the lab or receiving test results, ask your baby's healthcare provider or hospital staff for more information. ⁴

2. Hearing Screening Test

 Two simple tests can help detect hearing loss in babies. These tests are:

Test 1: Otoacoustic Emissions (OAE) Test

This test checks for your baby's response to sound. A small earphone and microphone are gently placed on the ear. Sounds are played, and the microphone measures the echo that bounces back. If no echo is detected, it may indicate hearing loss.⁴

Test 2: Auditory Brain Stem Response (ABR) Test

This test evaluates how your baby's brain responds to sound. Small earphones are placed in the baby’s ears and sounds are played. Special electrodes are placed on the head to detect the brain's response. The brain's inability to respond consistently to sounds may indicate a hearing problem. ⁴

3. Pulse Oximetry Testing

Pulse oximetry is a non-invasive test that measures oxygen levels in the blood. This simple test helps identify potential heart problems in infants, specifically Critical Congenital Heart Disease (CCHD), by detecting low blood oxygen levels.⁴

How does it work? A painless sensor is placed on the baby's skin, and a pulse oximeter machine takes readings. The test takes only a few minutes and is typically performed after the baby is 24 hours old. ⁴

Newborn Screening Test: How To Prepare?

No preparation is needed for newborn screening tests. The tests are most often done before leaving the hospital when the baby is between 24 hours and 7 days old. ³

Is The Blood Test Procedure Painful For Babies?

The baby will most likely cry when the heel is pricked to get the blood sample. Studies have shown that babies whose mothers hold them skin-to-skin or breastfeed them during the procedure show less distress. ³

Why Is Newborn Screening Performed?

The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms of a disease or condition. Early detection allows treatment to begin immediately, reducing the effects of the condition. ^{5 6}

Blood screening tests detect several disorders, including ⁶

Fatty acid metabolism disorders - During digestion, the body breaks down fat into fatty acids for energy. A baby with fatty acid oxidation problems can’t convert fat into energy efficiently. ¹

Amino acid metabolism disorders - Newborns with these problems cannot process certain amino acids (building blocks of proteins) in the body. 1 When amino acids are not metabolised properly, they can accumulate in the blood and tissues, leading to the buildup of toxic substances. Furthermore, it can have severe and potentially life-threatening consequences. ⁸

Haemoglobin disorders - These problems affect red blood cells. Red blood cells carry oxygen to the rest of the body.¹

Organic acid metabolism disorders - Metabolism is how quickly and efficiently your body processes what you eat and drink. Babies with organic acid metabolism disorders don’t break down food correctly, causing substances called organic acids to build up in the body. ¹

Endocrine disorders - These problems affect the glands that produce important hormones. Hormones are chemicals made by the body and help with the body’s growth and development. ¹

Besides these, it detects several other diseases such as cystic fibrosis, BIOT (Biotinidase deficiency, GALT (Classic galactosemia), SCID (Severe combined immunodeficiency), CCHD (Critical congenital heart disease), etc. ¹

What If Newborn Screening Results Aren’t Normal?

If your baby’s screening results aren’t normal, it may simply mean they need further testing. 

Conclusion:

Newborn screening is a vital tool in ensuring the health and well-being of newborn babies. By detecting potential health issues early on, newborn screening can help prevent serious complications and improve outcomes for babies with treatable conditions. As a parent, it's essential to understand the importance of newborn screening and to stay informed about the tests and procedures involved. 

LifeCell offers a comprehensive range of newborn screening tests designed to cater to your baby's unique needs. From GenomeScope Newborn to screening for specific conditions like the Newborn Screening 11 Conditions, Basic 7 Conditions, and TMS (52 Conditions), there’s a suitable option for every need. Choosing the right test can be based on your baby’s medical and family history, ensuring the best start in life.

FAQs

Q1 What Is A Positive Newborn Screening Test?

A positive result indicates that the results are abnormal. Henceforth, the child will need more tests, usually done by their regular doctor or a specialist.

Q2 If One Of Your Children Has A Health Condition, Will Another Have It Too?

Many health problems identified through newborn screening are passed down from parents to children through their genes. If one child in a family has an inherited health issue, other siblings are more likely to have the same problem compared to families with no affected children.