RA 9288: Newborn Screening Act of 2004

April 7, 2004

Enactment date of RA 9288

Gloria Macapagal Arroyo

Signed the approval of RA 9288

Infant’s or Neonatal Screening

Other term for Newborn Screening

Newborn Screening

Purpose is to identify the manifestation of genetic disorders

True

T/F: Newborn screening is non diagnostic

False

T/F: Newborn screening is diagnostic

Blood

Ideal sample for newborn screening

24 - 48 hrs

Timing of sample collection for newborn screening

Heel puncture

Method of sample collection for newborn screening

Palliative care

Type of care focused on providing relief than treating the condition of the patient

Newborn Screening Act of 2004

RA 9288 is known & cited as _______

Newborn Screening Priority Disorders

1. Congenital Hypothyroidism

2. Congenital Adrenal Hyperplasia

3. Phenylketonuria (PKU)

4. Galactosemia (GAL)

5. Glucose-6-Phosphate-Dehydronase Deficiency (G-6-PD Deficiency)

6. Maple Syrup Urine Disease (MSUD)

CONGENITAL HYPOTHYROIDISM

Deficiency in the production of thyroid hormone

1. Triiodothyronine (T3)

2. Thyroxine (T4)

   • 1 : 3,350

CONGENITAL ADRENAL HYPERPLASIA

Disorders caused by abnormalities in specific enzymes of the adrenal gland

• 1 : 13,500

21-alpha hydroxylase

90% of Congenital Adrenal Hyperplasia (CAH) is due to _____

Hormones that 21-alpha hydroxylase is unable to produce, causing CAH

• Cortisol

• Aldosterone

• Sex hormone

• Stress hormone

  C A S S

Cholesterol desmolase

Other enzyme that causes CAH

Autosomal Recessive

Inheritance pattern of all forms of CAH

PHENYLKETONURIA (PKU)

Disorder of aromatic amino acid metabolism

• Aromatic:

  • Mousy

  • Barny

  • Musty

• 1 : 20,000

Phenylalanine hydroxylase

Phenylalanine cannot be converted to tyrosine due to a deficiency or absence of this enzyme

GALACTOSEMIA (GAL)

Inborn error of carbohydrate metabolism characterized by elevated levels of galactose due to enzyme deficiencies

• 1 : 60,000

Galactose-1- phosphate uridyl transferase (GALT)

Primary form / most common cause of Galactosemia

Treatment for All Types of Galactosemia

Dietary elimination of milk products (lactose)

GLUCOSE-6-PHOSPAHTE-DEHYDRONASE DEFICIENCY (G6PD deficiency)

X-linked disorder found in both sexes but males are more affected

Glucose-6-Phospahte-Dehydronase

Enzyme used to produce reduced glutathione

Hexose Monophosphate Shunt

Pathway responsible for our natural antioxidant which start in G6PD

Hemolytic Anemia

Most common clinical manifestation of G6PD deficiency

Patients that need Glutathione

1. G6PD deficiency patients

2. Cancer patients

3. Leukemia patients

MAPLE SYRUP URINE DISEASE (MSUD)

Due to a defect or deficiency of the branched chain amino acid

• Elevated:

  • Leucine

  • Isoleucine

  • Valine

Follow-up

Monitoring of a newborn with a heritable condition for the purpose of ensuring that the newborn patient complies fully with the medicine or dietary prescriptions

Newborn

0 to 30 days old

Recall

Procedure for locating a newborn with a possible heritable condition for purposes of providing the newborn with appropriate laboratory to confirm the diagnosis and, as appropriate, provide treatment

Treatment

Provision of prompt, appropriate and adequate medicine, medical, and surgical management or dietary prescription to a newborn

Department of Health (DOH)

Responsible for appropriate notification & education regarding obligation to inform about newborn screening

24 hrs - 3 days

Time frame for performing the newborn screening

Philippine Health Insurance Corporation (PHIC)

Aside from DOH, what organization require health institutions to provide newborn screening services as a condition for licensure or accreditation

Department of Health (DOH).

Lead agency in implementing RA 9288.

Department of the Interior and Local Government (DILG)

DOH coordinates with this organization for the implementation of the newborn screening program

Newborn Screening Reference Center (NSRC)

DOH coordinates with this organization for the accreditation of Newborn Screening Centers

National Institute of Health (NIH), UP Manila

NSRC is located in?

8

How many members are in the Newborn Screening Advisory Committee (NSAC)?

Secretary of Health

Chairman of NSAC

NIH Executive Director

Vice Chairman of NSAC

National Institute of Health

Secretariat of NSAC