Newborn Screening 101: What First-Time Parents Need to Know

One topic that might come up during your hospital or prenatal visits is newborn screening. It’s a quick test done within 24 hours of birth.

While it might feel a little nerve-wracking to have your little one tested right after birth, it's a simple and super important step that can make a big difference in your little one's health. So much so that this screening is required by law in the Philippines, thanks to the Republic Act No. 9288 or the Newborn Screening Act.

Since 2004, RA 9288 ensures that every Filipino baby has access to this essential health service regardless of whether they were born in a hospital, lying-in clinic, health center, or private birthing facility.

Here's a breakdown of how newborn screening works so you can feel less worried about your baby and the process.

What is Newborn Screening?

The newborn screening test helps doctors check if your baby has a congenital disorder that's present from birth but not visible right away. Spotting these conditions means your healthcare provider can start early intervention to manage serious health problems or delays in development.

Will the test hurt your baby? A doctor will take a few drops of blood from your baby's heel within 24 hours after birth. The procedure is safe and quick and causes only minimal discomfort to your baby, similar to a routine vaccine.

What Conditions Can Newborn Screening Identify?

The newborn screening test is a quick and simple procedure that involves a heel prick where a small amount of blood is taken as sample.

Newborn screening in the Philippines checks for over 25 congenital disorders, according to the Newborn Screening Reference Center (NSRC) of the National Institutes of Health (NIH) UP Manila. The following six conditions, the original ones covered by RA 9288 before it was expanded, are known to cause severe health issues if not detected early.

Congenital hypothyroidism

Babies with this type of endocrine disorder are born with a thyroid gland that doesn't make enough thyroid hormones necessary for normal growth and development. NSRC says congenital hypothyroidism can lead to mental retardation, developmental delay, and stunted growth if left untreated.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a condition that affects hormone production in the adrenal glands. Many babies diagnosed with CAH after newborn screening experience "salt-wasting." Their adrenal glands make lower amounts of cortisol, aldosterone, and too much androgen. NSRC says babies who do not make enough aldosterone lose too much water and salt in their urine. As a result, they become dehydrated and suffer from very low blood pressure, which can be life-threatening if not treated right away.

Phenylketonuria

Newborns with this amino acid disorder cannot break down the enzyme phenylalanine hydroxylase (PAH) properly. They can start showing signs of the condition around six months old, which may include delays in developmental milestones, such as learning to sit or stand. If not treated, these children might experience issues like shorter attention spans, difficulties with learning, irritability, seizures, hyperactivity, and other behavioral challenges.

Galactosemia

Babies with this disorder can't break down galactose, a type of sugar in milk, including breast milk. If they continue to drink milk, the sugar builds up in their system, and it can lead to serious problems like blindness and developmental delays. However, early diagnosis and a strict lifelong diet without milk and dairy can prevent these complications

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

NSRC reports that 1 out of 63 screened newborns have G6PD deficiency, a genetic condition where red blood cells break down faster than the body can replace them. This makes it harder for the blood to carry oxygen effectively and can result in hemolytic anemia.

In newborns, G6PD deficiency can cause prolonged jaundice, which happens when the liver can't process bilirubin, a substance produced when red blood cells break down. If this bilirubin builds up too much, it can lead to serious complications, including brain damage.

Maple Syrup Urine Disease

Maple syrup urine disease (MSUD) gets its name from one of its symptoms, a "sweet smelling" (similar to burnt sugar) urine. Babies with MSUD have a malfunctioning enzyme called branched-chain ketoacid dehydrogenase (BCKAD), so it does not properly break down the amino acids leucine, isoleucine, and valine.

Parents of children with MSUD usually have one working gene and one faulty gene for the BCKAD enzyme. They don't have the disease themselves, but they can pass the defective gene to their children, who now become carriers.

If both parents are carriers, there’s a:

• 25% chance their child will inherit MSUD 
• 50% chance their child will be a carrier as well
• 25% chance their child won’t be affected at all

Early detection through newborn screening can help manage MSUD before symptoms appear.

What Other Congenital Disorders Are Newborns Screened For?

Here are the rest of conditions included in the screening panel, according to NSRC.

Amino acid disorders

Amino acids are the building blocks of protein. When newborns have issues with amino acids, they struggle to break down foods that contain them, so toxic substances build up in their bodies, leading to significant health concerns for the little ones. In addition to maple syrup urine disease and phenylketonuria, amino acid disorders include:

• Homocystinuria.
• Hypermethioninemia/Methionine Adenosine Transferase Deficiency
• Tyrosinemia Type I
• Tyrosinemia Type II & III

Fatty Acid Disorders

When fats aren't broken down properly, harmful substances can accumulate in the body, potentially damaging organs like the heart, muscles, and eyes. To help identify these issues early on, expanded newborn screening tests now check for these fatty acid disorders:

• Carnitine Palmitoyltransferase I Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Carnitine Uptake Deficiency
• Glutaric Acidemia Type II
• Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency
• Medium Chain-Acyl-CoA Dehydrogenase Deficiency
• Very Long Chain-Acyl-CoA Dehydrogenase Deficiency
• Tri-functional Protein Deficiency

Organic Acid Disorders

Newborns with organic acid disorders struggle to break down some proteins, making it hard for their bodies to remove waste. This can lead to severe symptoms like vomiting, weakness, seizures, and even coma. Organic acid disorders include:

• 3-Methylcrotnyl COA Carboxylase Deficiency
• Beta Ketothiolase Deficiency
• Glutaric Acidemia Type I
• Isovaleric Acidemia
• Methylmalonic Acidemia
• Multiple Carboxylase Deficiency
• Propionic Acidemia

Urea Cycle Defect

Urea cycle defects are genetic conditions that make it difficult for the body to eliminate waste from digesting proteins. The symptoms in newborns with the condition may include difficulty feeding, excessive tiredness, trouble breathing, seizures, or even coma. If left untreated early, babies with urea cycle defects can face delays in development and possible brain damage. The expanded newborn screening test can identify these urea cycle defects.

• Citrullinemia
• Argininosuccinic Aciduria

Hemoglobinopathies

Babies with hemoglobin disorders have red blood cells that cannot carry oxygen efficiently throughout the body. It can lead to problems like frequent infections, severe pain, and anemia. Expanded newborn screening tests for the following hemoglobinopathies:

• Alpha Thalassemia
• Beta Thalassemia
• Hemoglobin C
• Hemoglobin D
• Hemoglobin E
• Sickle Cell Disease

Cystic fibrosis

Babies with this disorder have a defective gene that causes recurring lung infections and malnutrition, which can lead to serious health problems and a shortened lifespan. Early detection and treatment can improve growth and development and decrease the risk of infections and other complications.

Biotinidase deficiency

Babies with this condition cannot efficiently use a vitamin called biotin. Without early treatment, they may develop seizures, developmental delays, eczema, and hearing loss. But with biotin supplements, parents can manage the condition and prevent complications.

Newborn Screening FAQs

The expanded newborn screening test in the Philippines screens for more than 25 congenital disorders.

I already did a congenital anomaly scan. Isn't that screening enough?

While a congenital anomaly scan can detect congenital disorders like anencephaly and indicators for Down Syndrome, it can’t identify every condition. This ultrasound is performed at around 18 to 22 weeks of pregnancy; some disorders will present only when until your baby is born.

Babies with congenital disorders may look well and feed normally, so you may not know your little one has a condition unless they are tested. By the time symptoms appear, it might have already irreversibly affected their health, or it’s too late to prevent complications.

Does newborn screening have a follow-up test?

Babies who are born early, have low birth weight, or are sick may need a repeat screening 28 days after birth. Certain factors, like their condition, any treatments they’re receiving, or even mom’s health, can affect the accuracy of the initial test.

How much is newborn screening?

Prices may differ depending on your healthcare facility, but screening usually costs between ₱1,750 to ₱2,000. Moreover, PhilHealth’s Newborn Care Package also provides ₱2,950 to cover the Newborn Screening Test and Newborn Hearing Screening Test.

What do I do if the results come back positive?

If you receive positive newborn screening results, your doctor may refer you to a specialist for confirmatory testing and treatment options. Follow-up care with your doctor can mean the preventing irreversible conditions.

Newborn screening is quick, safe, and life-saving. You're doing something that has a lifelong impact on your baby's future health! Join ParenTeam’s Facebook group for parents and spread the word about the importance of newborn screening!