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What Are the Diseases Detected in Newborn Screening?

A mother holding her newborn child close to her face

What problems can be detected by newborn screening?

  1. Metabolic
  2. Hormone
  3. Blood
  4. Rare


When children are brought into this world, parents are tasked to love and care for them. However, as soon as your child is born, they can be prone to sickness and disease. They’re not under the protection of your womb anymore and you need to take the necessary precautions.

Diseases can affect your baby as soon as they come out of the womb. Newborn screening can be done to prevent the development of these diseases.

Newborn screening is essential for early identification of disorders in newborns. If you want to ensure your child’s long-term health, it’s best to have them undergo the test. Neglecting to treat these disorders can put your child at risk. Newborn screening can also find disorders that can’t be easily identified physically. It can be scary to think about these but that’s why doctors encourage newborn screening as soon as possible.



Close up of a parent's hand being held by their newborn child

Metabolism converts food into energy, which is then distributed throughout the body. The enzymes in the body speed up metabolism so chemical reactions occur in the cells. When your child has metabolic problems, they won’t be able to absorb the nutrients and the energy they need. This can escalate to malnourishment when neglected.

Metabolic diseases can be difficult to manage. It’s important to give your child the right nutrition so their bodies can function properly. Unfortunately, most metabolic problems happen when enzymes are missing. Here are some of the metabolic disorders you might encounter:


  • Methylmalonic Acidemia
    • The inability to breakdown proteins and fats
  • Phenylketonuria
    • Increased levels of phenylalanine in the blood
  • Maple Syrup Urine Disease
    • Inability to process protein building blocks
  • Tyrosinemia
    • Difficulty in gaining weight and growth
  • Citrullinemia
    • Causes ammonia and toxic substances to build up in the blood
  • Medium-chain Acyl CoA Dehydrogenase (MCAD) Deficiency
    • Inability to break down certain fats for energy, which results in low sugar



A person in white wearing a newborn baby in diapers yawning

Hormonal problems occur in the womb when babies are exposed to chemicals in their mother’s bloodstream. Once the child is born, they are no longer exposed to these chemicals but they can still be affected by it. Hormones are made by glands to send out chemical messages. Hormone problems tend to happen when glands make too many hormones. Babies can be affected if they do not produce enough. Here are some common types of hormonal diseases that can be detected by newborn screening:


  • Congenital hypothyroidism
    • Inadequate thyroid hormone production
  • Congenital adrenal hyperplasia
    • Affects the adrenal glands



Close up of a newborn baby's feet wrapped in a white blanket

Newborns are also prone to blood diseases. If your baby has these problems, their body may have difficulty distributing oxygen around. Here are some blood diseases that can be detected:


  • Sickle Cell Disease
    • The distortion of hemoglobin cells (which distribute oxygen) that can lead to anemia
  • Hemoglobin SC Disease
    • Similar to sickle cell disease but on a lower severity
  • Beta Thalassemia
    • A decrease in the body’s capacity to make hemoglobin



Close up of a newborn baby laid down in a hospital bed

Babies are vulnerable and it’s a good practice to maintain a good, healthy environment for them. Even before the baby is born, the mother should be caring for herself by getting the right nutrition and lifestyle plan so the baby has the best chances. However, there are certain cases where rare diseases cannot be avoided because of genetics.

Rare diseases can cause serious problems just like the others listed above. Here are some rare problems you can encounter:


  • Galactosemia
    • The inability to use sugar to produce energy
  • Biotinidase Deficiency
    • Can cause delayed development, seizures, skin rash, hair loss, and weak muscle tone
  • Cystic Fibrosis
    • Produces sticky mucus that clogs the lungs and obstructs the pancreas
  • Severe Combined Immunodeficiency
    • Makes babies highly susceptible to infections
  • Pompe Disease (Glycogen Storage Disease Type II)
    • Causes undigested sugars and chemicals to accumulate in the cells
  • Mucopolysaccharidosis Type 1
    • Causes skeletal deformities and delays in motor and intellectual development
  • X-linked Adrenoleukodystrophy
    • Affects the nervous system and adrenal glands
  • Spinal Muscle Atrophy
    • Causes weakness and waste of the spinal muscles


Key Takeaway

Ask your doctor about newborn screening today. If your due date is coming soon or you’re interested in getting one as soon as the baby is born, you should consult your doctor. Give your baby the best chance by conducting a newborn screening right away.

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