8 - RA 9288: NEWBORN SCREENING ACT OF 2004

Newborn Screening Act of 2004

• An act promulgating a comprehensive policy and a national system for ensuring newborn screening

RA 9288

Newborn Screening Act of 2004

non-mandatory

Newborn Screening is ? but being encouraged by medical professionals

P550

Cost of newborn screening package

₱1750

Expanded newborn screening cost

19 sections

How many sections?

5 articles

How many articles?

General Provisions

Article 1

Definition of Terms

Article 2

Newborn Screening

Article 3

Implementation

Article 4

Final Provisions

Article 5

April 7, 2004

Date approved

Gloria Macapagal-Arroyo

President of the Philippines (signed)

Newborn Screening

Enables early detection and management of certain metabolic disorders

mental retardation and death

If left untreated, may lead to

• Newborn screening disorders also encompass significant reduction of morbidity and mortality associated with infant disabilities

• It’s very important to subject our children with newborn screening disorders

The early diagnosis and treatment of these disorders assures the child’s right to live and safeguard him/her to reach his/her potential

• Congenital hypothyroidism

• Congenital adrenal hyperplasia

• Phenylketonuria

• Galactosemia

• Glucose-6-phosphate dehydrogenase deficiency

• MSUD

Metabolic Disorders (Newborn Screening)

• Glucose-6 Phosphate Dehydrogenase Deficiency

• Congenital Hypothyroidism

• Congenital Adrenal Hyperplasia

• Galactosemia

• Phenylketonuria

• Maple Syrup Urine Disease

• Cystic Fibrosis

• Biotinidase Deficiency

• Organic Acid Disorders

• Fatty Acid Oxidation Disorders

• Amino Acid Disorders

• Urea Cycle Disorders

• Hemoglobin C

• Hemoglobin D

• Hemoglobin E

• Sickle Cell Disease

Expanded Newborn Screening

Congenital Hypothyroidism/Cretinism

Newborn babies who are unable to make enough thyroid hormone have ?

T3, T4, TSH

Hormones involved with Congenital Hypothyroidism

Thyroid Hormone

hormones that regulate the body’s metabolic rate, growth and development; secreted in anterior pituitary gland

Cretinism

hypothyroidism developing in infancy or early childhood

• Short stature

• Severe mental retardation

• Coarse facial features

• Protruding tongue

• Umbilical hernia

• Decreased T3 and T4 high levels of TSH

Symptoms of cretinism

Triiodothyronine and Thyroxine

low levels of T3 and T4

Thyroid Stimulating Hormone

high levels of TSH

Hyperthyroidism

T3 and T4 increased and low level TSH

Congenital Adrenal Hyperplasia

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

• 21-Hydroxylase

• 11-Hydroxylase

• 18-Hydroxylase

CAH lacks which enzymes?

Hyperplasia

Increased proliferation of cells

• Enlarged penis

• Failure to regain birth weight

• Weight loss

• Dehydration

• Vomiting

• Precocious puberty

• Rapid growth during childhood but shorter than average final height

Male symptoms of CAH

• Ambiguous genitalia

• Failure to regain birth weight

• Weight loss

• Dehydration

• Vomiting

• Precocious puberty

• Rapid growth during childhood but shorter than average final height

• Infertility

• Irregular or absent menstruation

• Masculine characteristics

Female symptoms of CAH

Phenylketonuria, phenylalanine hydroxylase

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

Mousy odor urine

Characteristic of PKU

• Most babies with phenylketonuria appear healthy at birth

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

• Learning disabilities

• Behavioral difficulties

• Epilepsy

Symptoms of PKU

FeCl3 tube test (urine + 5% ferric chloride)

Screening Test for PKU

changes of color from yellow (color of urine) to blue to green color

positive screening test to phenylketonuria

Guthrie Bacterial Inhibition Test

Confirmatory for PKU

Bacillus subtilis, beta₂-thienylalanine

? is cultured with beta₂-thienylalanine

If there is absence (no growth) of bacterial growth in guthrie bacterial inhibition test (no phenylalanine hydroxylase enzyme present in the baby)

Positive confirmatory

Galactosemia

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

• Galactokinase

• Galactose-1-phosphate uridyl Transferase (GALT 1)

• UDP Galactose 4’-epimerase

Galactose types

Galactosemia

Inability to metabolize galactose in the body which is very vital component of infant milk or even breast milk

milk

If galactosemic infant is given ?, unmetabolized milk sugars build up and damage the liver, kidneys and brain

• Brain damage

• Cataracts

• Jaundice (yellow discoloration of the skin)

• Enlarged liver

• Kidney damage

Signs and Symptoms of Galactosemia

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

Recognised as an important enzyme in glucose metabolism and its deficiency is commonly associated with a number of hereditary disorders

Glucose-6-Phosphate Dehydrogenase

2nd enzyme needed for the glycolytic pathway which is a very important pathway to metabolize glucose

pyruvate

If your glycolytic pathway is impaired, you will not able to metabolize the glucose inside the RBC and you will not able to create ? that could lead to high blood sugar or simply diabetes

Asymptomatic until exposed to an oxidative stressor

Patients with G6PD Deficiency:

• Jaundice

• Dark tea-colored urine, because the hemoglobin is oxidized, the RBC will lyse and be damaged; and when the kidney filters that, it will change the color from yellow to dark-tea-colored urine because of lysed RBC mix in urine

• Back pain (kidney damage)

Symptoms of G6PD

• Fatigue

• Hypotension

• Tachycardia

• Confusion & others

Anemic symptoms:

DOH Memorandum No. 2012-0524

In 2012, MSUD is added in Newborn Screening Act of 2004 (what DOH memo?)

Maple Syrup Urine Disease (MSUD)

A metabolic disorder caused by genetic mutation that inhibit the breakdown of certain amino acids

leucine, isoleucine & valine

It is a branched-chain amino acid disorder which has increase level of ?, ?, ?, in blood and urine

2,4-Dinitrophenylhydrazine (DNPH) test

Screening for G6PD

Yellow turbidity/precipitate

Positive Screening Result (+)

Amino acid chromatography

Confirmatory Test

• Vomiting

• Lack of energy (lethargy)

• Developmental delay

• Avoiding food

• Urine that smells like maple syrup

• If untreated, MSUD can lead to seizures, coma, and death

Symptoms of MSUD

National Institute of Health

The technical arm in the implementation of newborn screening and other concerned partners

National Institute of Health

is the National Reference Laboratory for newborn screening and located in UP Diliman

refuse

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

waiver

They must sign a ? for refusal documentation, so that if their children develop one of the newborn disorders, they will not blame the hospital for not undergoing the screening

After 24hrs of life but NOT later than 3 days from complete delivery

Collection (of blood spot)

3-day requirement, 7 days of age

A newborn placed in NICU (neonatal intensive care unit) may be exempted from the ? but must be tested by ?

heel prick method

Using the ?, a few drops of blood are taken from the baby’s heel (Lateral side of the plantar surface of the heel)

medical technologists

Newborn screening is performed by ?

imaginary V-line

You draw an ? in the baby’s heel because if you prick in the middle, it could lead to bone damage

special absorbent filter card

Blood is blotted on a ?

4 hours

Blood is dried for ? and sent to the Newborn Screening Center

accredited Newborn Screening Centers of the DOH-NIH network

Testing of samples will be performed at ?

Result released immediately within 24 hrs

When are Positive Results released?

Released 7 working days after receipt in the NBS lab

When are Negative Results released?

lifetime management

All of the congenital metabolic disorders require a ?

Severe Mental Retardation

CH and PKU: Effect if not screened

Normal

CH, PKU, and G6PD: Effect if screened and managed

Death

CAH and MSUD: Effect if not screened

Alive and normal

CAH, GALAC, MSUD: Effect if screened and managed

Death or cataracts

GALAC: Effect if not screened

Severe anemia, kernicterus

G6PD: Effect if not screened

• 2 NSCs in Luzon

• 2 in Visayas

• 1 in Mindanao

Establishment of NSCs — Depends on the overall demand in the country based on AO No. 121s 2003

How many NSCs per island?

Section 2: Declaration of Policy

The state shall protect and promote the right to health of the people, including the rights of children to survival and full and healthy development as normal individuals

• Comprehensive

• Integrative

• Sustainable

• Facilitate collaboration with other institutions

The state shall institutionalize a national newborn screening system: (4)

Section 3: Objectives

• Ensure that every newborn has access to newborn screening for certain heritable conditions that can result in mental retardation, serious health complications or death if left undetected and untreated

• Establish and integrate a sustainable newborn screening system within the public health delivery system

• Ensure that all health practitioners are aware of the advantages of newborn screening and of their respective responsibilities in offering newborns the opportunity to undergo newborn screening

• Ensure that parents recognize their responsibility in promoting their child’s right to health and full development, within the context of responsible parenthood, by protecting their child from preventable causes of disability and death through newborn screening

Clinical Evaluation

? and biochemical/medical confirmation of test result

Collection and Biochemical Screening

? of blood

Comprehensive Newborn Screening System

• Education of relevant stakeholders

• Collection and biochemical screening of blood

• Tracking and confirmatory testing

• Clinical evaluation and biochemical / medical confirmation of test results

• Drugs and medical / surgical management and dietary supplementation to address the heritable conditions

• Evaluation of activities to assess long term outcome

• Patient outcome and quality assurance

Drugs and Medical/Surgical Management

? and dietary supplementation to address the heritable conditions

Follow-Up

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

Health Institutions

Hospital, health infirmaries, health centers, lying-in centers, puericulture centers (public or private)

Health Care Practitioners

Physicians, nurses, midwifes, nursing aides, and traditional birth attendants

Heritable Condition

Any condition that can result in mental retardation, physical deformity or death if left undetected and untreated and which is usually inherited from the genes of either or both biological parents of the newborn

Newborn

A child from the time of complete delivery to 30 days old

Newborn Screening

The process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing for determining if the newborn has a heritable condition

Newborn Screening Center

Facility equipped with a newborn screening laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions

Newborn Screening Reference Center

The central facility at the NIH that defines testing and follow-up protocols, maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all aspects of the program, oversees content of educational materials and acts as the Secretariat of the Advisory Committee on Newborn Screening

Parent Education

The various means of providing parents or legal guardians information about newborn screening

Recall

A 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

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 of the heritable condition

annually

Disseminate information materials on newborn screening at least ? to all health personnel involved in maternal and pediatric care