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1. What is Newborn Screening

Newborn Screening (NBS) is a public health program used to detect congenital metabolic and genetic disorders in newborns early. It helps identify treatable disorders before symptoms appear, preventing severe complications, disability, or death.

The screening is usually done through a heel prick test, where a few drops of blood are collected on a special card. The test is ideally performed within 24–72 hours after birth.

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2. Importance of Newborn Screening

Newborn screening is important because many babies with metabolic disorders appear normal at birth. Without screening, the disease may only be discovered after serious symptoms occur.

Early detection allows early treatment, preventing complications such as:

  • Intellectual disability

  • Organ damage

  • Growth problems

  • Death

Therefore, newborn screening improves the health and quality of life of children and their families.

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3. Newborn Screening in the Philippines

In the Philippines, newborn screening is mandated by Republic Act 9288 or the Newborn Screening Act of 2004.

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The program ensures that every newborn is screened for certain serious disorders. The Department of Health also supports Expanded Newborn Screening, which tests for more conditions to further improve early detection.

4. Common Disorders Detected in Newborn Screening

Some of the most common disorders screened include:

1. Congenital Hypothyroidism (CH)
A disorder where the thyroid gland does not produce enough hormones, leading to delayed physical and mental development.

2. Phenylketonuria (PKU)
A metabolic disorder where the body cannot properly break down phenylalanine, which may cause brain damage if untreated.

3. Galactosemia
A disorder where the body cannot process galactose, causing liver damage, infection, and developmental problems.

4. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
An enzyme deficiency that causes red blood cells to break down easily.

5. Congenital Adrenal Hyperplasia (CAH)
A hormonal disorder affecting the adrenal glands that can disrupt salt balance and hormone production.

6. Maple Syrup Urine Disease (MSUD)
A metabolic disorder where certain amino acids build up in the body, leading to serious complications.

5. Procedure of Newborn Screening

The newborn screening process involves the following steps:

  1. A heel prick is performed on the baby.

  2. Drops of blood are collected on a special filter paper card.

  3. The sample is dried and sent to a Newborn Screening Center.

  4. Results are usually available within about 7 working days.

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6. Positive Screening Result

A positive screening result does not automatically mean the baby has the disease. It only indicates that the baby has a higher risk for the disorder.

When a result is positive:

  • The baby must undergo confirmatory testing

  • The infant should be referred immediately to a specialist

  • Early treatment must be started if the diagnosis is confirmed.

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7. Role of Nurses

Nurses play a vital role in newborn screening. Their responsibilities include:

  • Ensuring that newborn screening is performed for every baby

  • Educating parents about the importance of screening

  • Assisting in specimen collection

  • Ensuring proper transport of samples to screening centers

  • Counseling parents regarding the results

  • Coordinating referrals and follow-up care when needed

Through these roles, nurses help ensure early detection and treatment of serious newborn disorders.

Key Recitation Takeaway

Newborn screening is a simple but life-saving procedure that allows early detection of serious congenital disorders. Early diagnosis and treatment prevent permanent complications and improve the child’s quality of life.