Lesson 11: RA 9288 Newborn Screening Act of 2004

NEWBORN SCREENING

Enable early detection and management of certain metabolic disorders.

Congenital hypothyroidism

Newborn babies who are unable to make enough thyroid hormone have congenital hypothyroidism (T3, T4, TSH)

Cretinism

Hypothyroidism developing in infancy or early childhood

Congenital adrenal hyperplasia

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

Phenylalanine hydroxylase

Babies with PKU are missing an enzyme called

phenylalanine

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

Phenylketonuria

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

alkaptonuria

too much alkalinity in urine

robert guthrie

who invented Guthrie Bacterial Inhibition test

Bacillus subtillis

it is culture with beta2- thienylalanine

Beta2-thienylalanine

it inhibits the growth of B. subtilis

Phenylalanine

counteracts the action of beta2-thienylalanine

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.

Glucose-6-Phosphate dehydrogenase (G6PD)

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

Maple syrup urine disease (MSUD)

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

Maple syrup urine disease (MSUD)

It is a branched-chain amino acid disorder which has increased level of leucine, isoleucine, & valine in blood and urine

- Learning disabilities

\- Behavioral difficulties

\- Epilepsy

if Phenylketonuria isn’t treated, damage to the brain and nervous system can lead to?

seizures, coma, and death

If Maple syrup urine disease (MSUD) is untreated, Maple Syrup Urine Disorder can lead to?

mental retardation and death.

if newborn screening is left untreated, may lead to?

NEWBORN SCREENING ACT OF 2004 RA 9288

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

National Institute of Health (NIH)

\- It is the technical arm in the implementation of newborn screening and other concerned partners.

National Institute of Health (NIH)

It is where the Newborn Screening Reference Center is located

National Institute of Health (NIH)

NRL for newborn screening

after 24 hours of life

Newborn screening for normal deliver should be done __

7 days of age

Newborn screening for NICU may be exempted from the 3 day requirement but must be tested by __

3 days

Newborn screening for normal deliver should be done not later than __

heel prick method

Using the ___, a few drops of blood are taken from the baby's heel

baby's heel

a few drops of blood are taken from the __

4 hours

blood blotted on a special absorbent filter card is dried for how long?

within 24 hours

Newborn Screening Centers of the DOH-NIH network, (+) result - result released ___

7 working days

Newborn Screening Centers of the DOH-NIH network, (-) result - result released ___ after receipt in the NBS lab

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

Follow-Up

Monitoring of a newborn

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

Condition that can result in mental retardation, physical deformity or death

Newborn

Means a child from the time of complete delivery to 30 days old

Newborn Screening

Process of collecting a few drops of blood from the newborn onto a 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.

Newborn Screening Reference Center

Central facility at the NIH that defines testing and follow up protocols, maintains an external laboratory proficiencies and national database

Parent Education

Various means of providing parents or legal guardians information

Recall

Procedure of locating a newborn

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.

DOH and the Phil. Health Insurance Corporation (PHIC)

___ shall require health institutions to provide newborn screening services as a condition for licensure or accreditation.

DOH

who Establish the advisory committee on newborn screening

8

how many committee members on newborn screening

19

how many sections RA 9288 has?

April 07, 2004

RA 9288 was approved when?

Gloria Macapagal - Arroyo

RA 9288 was signed by?

NBS Reference center

shall maintain a national database of patients tested and a registry for each condition

NBS Reference center

shall submit reports annually to the committee and to the DOH on the status of an relevant information derived from the data.

annually

NBS Reference center shall submit reports ___ to the committee and to the DOH on the status of an relevant information derived from the data.

550 pesos

fee for newborn screening (covered by PhilHealth)

1750 pesos

expanded newborn screening fee

1\. Congenital hypothyroidism

2\. Congenital adrenal hyperplasia

3\. Phenylketonuria

4\. Galactosemia

5\. Glucose-6-phosphate dehydrogenase deficiency

6\. MSUD

Basic NBS Package

1. screening
2. follow-up
3. diagnosis
4. management
5. quality assurance

components of the PH newborn screening system

2

How many NSCs in Luzon

2

How many NSCs in Visayas

1

How many NSCs in Mindanao

pampanga and UP

where are the NSCs in Luzon

Executive director of the NIH

who shall act as Vice Chairman

Secretary of the DOH

Who should be the chairman of the committee

Executive Director of the Council

committee member for the Welfare of Children

Secretary of Health

The 3 Representatives appointed by the __