Newborn Screening Tests: Top 10 Life-Saving Checks for Your Baby

Has your name tag changed to “parents now” or are you still in the process? Becoming a parent is a beautiful journey—but it also brings with it the responsibility of safeguarding your baby’s health from day one. Your newborn may look perfect on the outside, but some health conditions can remain hidden without early testing. That’s where newborn screening tests come in. These simple tests, often done within the first few days after birth, can detect a range of rare but serious health conditions. Do you know about them?

In this blog, we’ll walk you through the top newborn screening tests, why they matter, and what every parent should know.

What Are Newborn Screening Tests?

Newborn screening tests refer to a set of tests for newborn babies that screen for certain genetic, metabolic, and congenital disorders. Their purpose 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?

These tests are 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

Why Are Newborn Screening Tests Performed?

The purpose of newborn screening tests 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. ^{4, 5}         

Blood screening tests detect several disorders, including 

1. 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. 
2. 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. ⁶
3. Haemoglobin disorders - These problems affect red blood cells. Red blood cells carry oxygen to the rest of the body. 
4. 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. 
5. 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.

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. 

Top 10 Newborn Screening Tests Every Parent Should Know

1. Congenital Hypothyroidism (CH)

Congenital hypothyroidism is a condition where a baby’s thyroid gland doesn’t produce enough hormones crucial for brain development and growth. It’s one of the most common conditions detected through newborn screening. Without early treatment, CH can cause intellectual disabilities and developmental delays. Thankfully, it can be easily managed with daily thyroid hormone replacement if diagnosed early. ^{7, 8, 9}

Symptoms: 

• Jaundice
• Constipation
• Swelling around the eyes
• Weak muscle tone
• Long sleeping duration

2. Phenylketonuria (PKU)

PKU is a rare genetic disorder in which the body can’t break down an amino acid called phenylalanine. If phenylalanine builds up in the body, it can harm brain development, leading to intellectual disability and behavioral issues. Early diagnosis through newborn screening allows for a special low-protein diet that can prevent these complications and help the child lead a normal life. ^{10, 11, 12}

Symptoms: 

• Small head size
• Skin and hair discoloration
• Behavioral issues
• Neurological and mental health problems
• Hyperactivity

3. Congenital Adrenal Hyperplasia (CAH)

CAH affects the adrenal glands, which produce hormones that regulate essential body functions like salt levels and stress response. In severe cases, it can cause life-threatening salt loss or ambiguous genitalia in newborn girls. A simple blood test can detect abnormal hormone levels, and treatment involves hormone replacement therapy to maintain a healthy balance. ^{13, 14, 15}

4. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

G6PD deficiency is when the body is missing or doesn’t have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work properly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they normally would. So instead of circulating for 90 days, the red blood cells are destroyed earlier. This results in a low number of red blood cells called anemia. G6PD deficiency is usually inherited, meaning it's passed down from parents to their children through genes. ^{16, 17, 18}

Symptoms:

• Pale skin (paleness may be best seen in the mouth)
• Yellowing of the skin, eyes, and mouth (jaundice)
• Dark-colored urine
• Fever
• Weakness and extreme tiredness
• Dizziness

5. Cystic Fibrosis (CF)

Cystic fibrosis is a genetic disorder that causes thick, sticky mucus to build up in the lungs, pancreas and digestive tract, leading to breathing problems and nutritional issues. Newborn screening measures a protein linked to CF, and if caught early, interventions such as airway clearance techniques and digestive enzyme supplements can significantly improve quality of life and life expectancy. ^{19, 20, 21}

Symptoms:

• Oily stool
• Sinus infections
• Slow growth
• Trouble while breathing
• Frequent sneezing and coughing

6. Galactosemia

Galactosemia is a metabolic disorder where the baby’s body cannot break down galactose, a sugar found in milk. This is another inherited disorder that a baby gets from the parents. If left untreated, it can lead to liver failure, cataracts, or brain damage. Newborns with galactosemia require a strict galactose-free diet from the very beginning, which can prevent serious health issues and ensure normal growth and development. Newborns affected with this disorder have to strictly avoid dairy products, breast milk and other baby formulas available in the market. ^{22, 23}

Symptoms:

• Enlarged fever
• Weakness and lethargy
• Diarrhea
• Abdominal swelling 
• Edema (swelling around the brain)
• Loss of appetite

7. Maple Syrup Urine Disease (MSUD)

MSUD is a rare disorder named after the sweet-smelling urine it causes. It prevents the body from processing certain amino acids found in protein-rich foods. If untreated, toxic buildup can lead to brain swelling, coma, and even death. Early diagnosis allows parents to manage the condition with a special low-protein diet and medical formulas. ^{24, 25, 26}

Symptoms:

• Syrupy smell in their pee, sweat or earwax.
• Lethargy (they may move slowly or appear tired or weak).
• Irritability or fussiness.
• Not eating.

8. Biotinidase Deficiency

This inherited disorder prevents the body from recycling biotin, a B-vitamin essential for metabolic processes. Without enough biotin, babies may experience seizures, skin rashes, hair loss, or developmental delays. However, the condition is easily treatable with biotin supplements, which is why early screening plays a vital role in preventing long-term effects. ^{27, 28, 29}

9. Sickle Cell Anemia

Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It impacts the shape of red blood cells, which are responsible for carrying oxygen to all parts of the body. Typically, red blood cells are round and flexible, allowing them to move smoothly through blood vessels. However, in sickle cell anemia, some red blood cells take on a sickle or crescent moon shape. These abnormally shaped sickle cells become rigid and sticky, which can impede or block blood flow. The current treatment approach focuses on relieving pain and preventing complications associated with the disease. Nevertheless, newer treatments are being developed that may potentially cure individuals of the disease. ^{30, 31, 32}

Symptoms:

• Frequent infections
• Fatigue and fussiness
• Pain in your arms, legs and chest
• Swelling in hands and feet
• Yellow-colored eyes

10. Spinal Muscular Atrophy (SMA)

SMA is a genetic condition that causes muscle weakness and progressive loss of movement. It’s one of the leading genetic causes of infant death if not treated early. The screening looks for mutations in the SMN1 gene. With early detection, babies can benefit from new treatments that dramatically slow the disease's progression and improve motor function. ^{33, 34, 35}

Symptoms

• Decreased muscle tone
• Limited head control
• Muscle weakness
• Breathing problems
• Difficulty in swallowing leading to growth issues

Why Choose Lifecell For Newborn Screening?

When it comes to your baby’s health, trust and expertise matter. LifeCell, a leader in preventive healthcare and diagnostics, offers one of the most comprehensive newborn screening tests. What sets LifeCell apart is its commitment to early detection, advanced technology, and reliable support for new parents navigating their baby’s health journey.

One of those tests is LifeCell’s Newborn Screening GCMS, a highly advanced test that screens for 111 congenital disorders using cutting-edge Gas Chromatography-Mass Spectrometry (GCMS) technology. From metabolic and hormonal disorders to genetic conditions, this wide panel ensures that no critical condition goes undetected.

The test is non-invasive and completely safe—just a few drops of blood are collected from your newborn’s heel and analysed in LifeCell’s state-of-the-art lab, which follows global best practices and stringent quality controls. Fast, reliable, and accurate—LifeCell’s screening empowers parents with early insights that can lead to timely medical interventions and better outcomes.

What’s more, in case of a positive result, LifeCell provides genetic counseling and expert guidance, so you're never left with unanswered questions or navigating next steps alone.

By choosing LifeCell, you're not just opting for a test—you're investing in a healthier future for your child.

Conclusion

The first few days after birth are crucial—and opting for a newborn screening test is one of the simplest yet most powerful ways to protect your baby’s future. These tests may only take a few drops of blood, but they hold the potential to detect life-altering conditions early, when they’re most treatable.

As a parent, choosing comprehensive screening isn’t just about covering the basics—it’s about giving your child the best possible start in life. And with trusted partners like LifeCell, you gain access to world-class technology, expert support, and the peace of mind that you’re doing everything you can for your baby’s health.