RA 9288

NEWBORN SCREENING ACT OF 2004

RA 9288

April 7, 2004

Gloria Macapagal-Arroyo

Date Approved:

Signed by:

NEWBORN SCREENING PROGRAM

• Enable early detection and management of certain metabolic disorders.

• Which if left untreated, may lead to mental retardation and death.

Mandatory public health program

Follow up

Health Institutions

Healthcare Practitioners

• ______________ (FU) - monitoring of a newborn

• _________________ (HI) - hospital, health infirmaries, health centers, lying-in centers, puericulture centers (public or private)

• ________________ (HP)- physicians, nurses, midwives, nursing aides, and traditional birth attendants

Heritable Condition

Newborn

Newborn Screening Center

• ______________ (HC) - condition that can result in mental retardation, physical deformity or death

• _____________ (N) - means a child from the time of complete delivery to 30 days old

• __________________ (NSC) - facility equipped with a newborn screening laboratory that complies with the standards

• Newborn screening reference center

• Parent education

• Recall

• Treatment

• _________________ (NSRC) - central facility at the NIH that defines testing and follow up protocols, maintains external laboratory proficiencies and national database

• _______________(PE) - various means of providing parents or legal guardians information

• ___________(R) - procedure of locating a newborn

• ________________(T) - the provision of prompt, appropriate and adequate medicine, medical and surgical management or dietary prescription to a newborn for purposes of treating or mitigating the adverse health consequences

Basic Package: 550

Expanded Package: 1,750

How much is the Basic Package Fee? and the Expanded NBS Package Fee?

Components of the Philippine Newborn Screening System

• Screening

• Follow-up

• Management

• Diagnosis

• Quality Assurance

Components of the Philippine Newborn Screening System

• S

• FU

• M

• D

• QA

There are 8 Members of the Advisory Committee

Its Chairman is the Secretary of DOH

Its Vice Chairman is the Executive Director of NIH

and the Secretariat of the Committee is the NIH

There are ___ Members of the Advisory Committee

Its Chairman is the:

Its Vice Chairman is the:

and the Secretariat of the Committee is the:

NATIONAL INSTITUTE OF HEALTH (NIH)

• Is the technical arm in the implementation of newborn screening and other concerned partners • Is where the Newborn Screening Reference Center is located

Parent may refuse due to religous beliefs

Collection must be 24 hours but not later than 3 days

A newborn in NICU must be tested within 7 days

A parent or legal guardian may refuse testing on the grounds of _______________. A copy of refusal documentation shall be made out of the newborn’s medical record

Collection:

After ___ hours of life but NOT later than __ days from complete delivery

A newborn placed in NICU may be exempted from 3-day requirement but must be tested by __ days of age

Done using the heel prick method and blotted into a filter card, dried for 4 hours

Newborn Screening is done using the _____________ method which is blotted into a special absorbent _______________ and dried for __ hours.

Perforned at Newborn Screening Centers

Positive result within 24 hours

Negative within 7 days

Samples are performed at ________________ (NSC) of the DOH

Positive Result is received within ___ hours

Negative result is released within __ working days

• • Congenital hypothyroidism

• • Congenital adrenal hyperplasia

• • Phenylketonuria • Galactosemia

• • Glucose-6-phosphate dehydrogenase deficiency

• • Maple Syrup Urine Disease (MSUD) * Acronym: CCPGGM (6 disorders)

6 Metabolic Disorders

• CH

• CAH

• P

• G

• G6PD

• MSUD

CONGENITAL HYPOTHYROIDISM / CRETINISM

• Newborn babies who are unable to make enough thyroid hormone have ___________________

• One of the functions of the thyroid hormone is in the immunity of the body, therefore, a baby will be at risk in developing infections if he/she lacks the said hormone

• Hypothyroidism developing in Infancy or Early Childhood

• Low Levels of T3 and T4 hormone

• High levels of TSH hormone

• One of the functions of the thyroid hormone is in the __________________, therefore, a baby will be at risk in developing infections if he/she lacks the said hormone

• Hypothyroidism developing in __________ or ____________

• Low Levels of ______ and _________ hormone

• High levels of _________ hormone

Clinical manifestations of Congenital Hyperthyroidism

• Short Stature

• Severe Mental Retardation

• Coarse Facial Features

• Protruding Tongue

• Umbilical Hernia

Clinical manifestations of Congenital Hyperthyroidism

• SS

• SMR

• CFF

• PT

• UH

Congenital Adrenal Hyperplasia

• People with __________ lack one of the enzymes needed for proper function of the adrenal glands

11-Hydroxylase

17-Hydroxylase

18-Hydroxylase

People with CAH lacks at least one of the above enzymes:

11 Hydroxylase = Cortisol

17 Hydroxylase = Testosterone

18 Hydroxylase = Aldosterone

• 11-Hydroxylase will later on produce _______ (also known as stress hormone)

• 17-Hydroxylase will later on produce _____________ (needed for the sexual development in babies)

• 18-Hydroxylase will later on produce _____________ (which is responsible for the salt exchange)

Phenolketonuria

• Most babies with this disorder appear healthy at birth

• Symptoms usually only develop due to complications that arise if the condition is not treated properly

Phenylalanine Hydroxylase

Phenylalanine has a mousy odor

Urine appears to be alkaptonuria

Babies with PKU are missing an enzyme called _________________, which is needed to break down an essential amino acid called phenylalanine

Phenylalanine is an amino acid, and if not broken down will cause a _________ odor of urine

Urine appears to be ______________ (too much alkaline therefore the urine darkens in color

Iron Chloride Tube Test - Screening

Guthrie Bacterial Inhibition Test - Confirmatory

Screening Test for Phenylketonuria (FeCl)

Confirmatory Test for Phenylketonuria (GBIT)

Galactosemia

An inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body

Galactosemia happens due to the deficiency of either:

• Galactokinase

• Galactose-1-Phosphate Uridiyl Transferase (GALT1)

• UDP G4E

Galactosemia happens due to the deficiency of either:

• GK

• G1PUT (GALT1)

• UDP G4E

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

It is recognized as an important enzyme in glucose metabolism and its deficiency is commonly associated with several hereditary disorders

involved in glycolytic pathway

MAPLE SYRUP URINE DISEASE (MSUD)

a metabolic disorder caused by genetic mutations that inhibit the breakdown of certain amino acids

Memorandum Order No. 2021-0514

Increased levels of Leucine, Isoleucine, and Valine

Maple Syrup Urine Disease was added to the basic screening test under DOH Memorandum No. ______________

It is a branched amino acid disorder that has increased levels of (LIV) in blood and urine

2,4 - Dintrophenylhydrazine test - Screening

Amino Acid Chromatography - Confirmatory

Screening and Confirmatory Test of G6PD