L2.3.2: Comprehensive Newborn Screening Program (NBS)

• Comprehensive Newborn Screening (NBS) Program

  ● Provided by R.A. 9288 or the Newborn Screening Act of 2004

  ○ All newborns should undergo mandatory screening for the detection of metabolic disorders. (commonly affecting digestion)
• Comprehensive Newborn Screening (NBS) Program

  ● Screening - This is a blood test done on the newborn 24 to 72 hours after birth.

  ○ Enables early detection and management of several congenital disorders which may lead to mental retardation and/or death if untreated.

  ➢ Mental retardation is IRREVERSIBLE
• Comprehensive Newborn Screening (NBS) Program

  ● The NBS program currently includes screening of 6 disorders.

  1. Congenital Hypothyroidism

  2. Congenital Adrenal Hyperplasia

  3. Phenylketonuria (PKU)

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

  5. Galactosemia

  6. Maple Syrup Urine Disease (MSUD)
• Congenital Hypothyroidism

  ● Low production of thyroid hormone = Deficiency of Thyroid function

  ○ The Thyroid plays a role in metabolism

  ➢ Temperature regulation

  ➢ Heart rate
• Congenital Hypothyroidism

  ● Some symptoms include:

  ○ Sleeping longer than usual

  ○ Difficulty in feeding

  ○ Constipation (Congenital Hypothyroidism: MedlinePlus Genetics)
• Congenital Adrenal Hyperplasia

  ● Overgrowth of tissue around the adrenal gland = Glands produce too little of cortisol, aldosterone, and excess androgens

  ○ Adrenal gland is found above kidneys

  ○ Important for the “fight or flight” response (Sympathetic) and digestion (Parasympathetic)

  ○ Important also for blood pressure, and the immune system
• Congenital Adrenal Hyperplasia

  ● Some symptoms include:

  ○ Problems maintaining blood pressure, sugar levels

  ○ Difficulty in feeding

  ○ Dehydration

  ○ Low blood glucose (CAH: MayoClinic)
• Phenylketonuria (PKU)

  ● Defect in enzyme = Inability to process proteins into amino acid Phenylalanine

  ○ The amino acid is important not only for muscle building, but also for RNA.

  ● Proteins are thrown away as ketones in urine (Blocks)
• Phenylketonuria (PKU)

  ● Some symptoms include:

  ○ Eczema

  ○ Skin/Hair discoloration

  ○ Musty odor in breath and urine (Phenylketonuria: Cleveland Clinic)

  *Individuals with PKU have strict diets as they can’t have high protein-foods that may have phenylalanine in them
• Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

  ● Problem releasing the enzyme G6PD

  ○ G6PD is needed for red blood cells and act as protection for these cells from damage caused by chemicals, food, infections
• Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

  ● Some symptoms include:

  ○ Hemolytic Anemia (RBCs break down way faster than they should)

  ○ Kernicterus = Condition caused by high levels of bilirubin that leads to brain damage, small brain size, and jaundice

  ○ Enlarged spleen (G6PD Deficiency: KidsHealth)
• Galactosemia

  ● Lack of enzymes = Inability to process and break down Galactose (High levels of galactose in blood stream)

  ○ Galactose is a simple Carbohydrate (Macromolecule - Monosaccharide)
• Galactosemia

  ● Some symptoms include:

  ○ Difficulty in feeding

  ○ Yellow skin and eyes (jaundice)

  ○ Irritability

  ○ Cataracts

  ○ Low energy levels (Galactosemia: KidsHealth)
• Maple Syrup Urine Disease (MSUD)

  ● ALL nutrients are not absorbed by the body

  ○ Urine comes out thick, dark, and aromatic, due to the concentration of nutrients
• What are PROGRAM OBJECTIVES of the NBS Program?

  1. By 2030, all Filipino newborns are screened

  2. Strengthen quality of service and intensify monitoring and evaluation of NBS implementation

  3. Sustainable financial scheme

  4. Strengthen patient management
• What is the PROCEDURE?

  ● A few drops of blood are taken from the baby’s heel, and blotted on the special absorbent filter card. (Heel is very vascular)

  ● The filter card will then be sent to the Newborn Screening Center (NSC)

  ● The collection of the blood sample may be collected by: Physicians, Nurses, Medical Technologists, and Trained Midwives.
• When are Newborn Screening Results AVAILABLE?

  Where? Results can be claimed from the health facility where NBS was availed

  When? Normal NBS results are available by 7-14 working days
• When are Newborn Screening Results AVAILABLE?

  What Results?

  1. Negative Screening - NBS result is normal
  2. Positive Screening - There is a presence of a metabolic disorder, thus the newborn must be brought back to the health practitioners for a confirmatory test. (To identify the metabolic disorder)