Newborn Screening Act

10.5 Million

10.5 Million

How many babies are screened?

150k babies

How many babies were confirmed positive

Follow up

means check up

Health Institution

refers to hospitals, health centers, lying-ins that offers obstetrical and pediatric services

Health Care Practitioner

refers to Physician, Midwives, Nurses,Nursing aides, Traditional birth attendants

Heritable condition

refers any inherited condition that may lead to mental retardation, physical deformity or even death

National institute of Health

NIH means?

Newborn

refers to child from the time of complete delivery to 30days

Newborn Screening Center

refers to any facility equipped with screening laboratory tests and complies with the standards of NIH

Parent Education

refers to providing NBS information to guardian

RA 9288

Newborn Screening Act of 2004 is what RA?

Former Vice-President Noli De Castro, Juan Flavier

Author of RA 9288

April 7, 2004

Approval Date of RA 9288

President Gloria Macapagal-Arroyo

Who signed RA 9288?

SN 2829

Lito Lapid Ocular Prophylaxis

SN 1372

Loren Legarda –Mandatory Hearing Loss Screening

SN 204

Antonio Trillanes

HB 7102

Gary Alejano

Presidential Proclamation No. 540

Newborn Screening Awareness Week

19 sections

How many sections in RA 9288

Section 1, 2, and 3

General Provisions

Section 4

Definition of Terms

Sections 5, 6, 7, 8, 9

Newborn Screening are which sections

Sections 10, 11, 12, 13, 14, 15, 16

Implementation

Sections 17, 18, 19

Final Provisions

Newborn Screening

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

1. Comprehensive

2. Integrative

3. Sustainable

4. Collaborative

Elements of NBS

Hypothyroidism

is a condition where there is diminished production of thyroid hormones

Congenital

means existing at birth

Congenital Hypothyroidism

Jaundice, poor muscle tone, Low body temperature ,long-protruding tongue, large anterior fontanel, umbilical hernia

Congenital Adrenal Hyperplasia

Inherited genetic disorders where there is deficient production of certain enzyme needed to produce adrenal hormones

Hyperplasia

means increase in cell number

Cortisol, Aldosterone, Androgens, Catecholamines

– Regulate metabolism

– Helps in immunity

– Regulates blood pressure

– Maintenance of sexual characteristics

Thyroid replacement

Treatment of Congenital Hypothyroidism

Synthetic form of hydrocortisone, surgery

Treatment of Congenital Adrenal Hyperplasia

Phenylketonuria

Is an autosomal recessive metabolic disorder in which the body cannot properly use the essential amino acid phenylalanine due enzyme deficiency

Mousy Odor

Smell of Urine with Phenylketonuria

Tyrosine

Phenylalanine to

Guthrie Test

Screening for Phenyl Ketonuria

Protein diet restriction

Treatment for Phenylketonuria

Maple Syrup Urine Disease

Is an autosomal-recessive genetic disorder where there is deficient or absence of production of enzyme branched chain alpha-ketoacid decarboxylase

Maple syrup (Burnt sugar odor)

Smell of Urine with Maple Syrup Urine Disease

Diet restriction

Treatment for Maple Syrup Disease

Glucose-6-PD Deficiency

Is an inherited condition in which the body lacks the enzyme G-6-PD which helps red blood cells function normally

Blood transfusion, Phototherapy, Folic acid, limit exposure

Treatment of Glucose-6-PD Deficiency

Galactosemia

An inherited disorder that lacks an enzyme galactose-1-phosphate uridyl transferase

Avoid milk products, galactose restricted diet

Treatment of Galactosemia

Basic NBS

Six-Test Panel of Disorders

Expanded NBS

28-Test Panel of Disorders

They perform NBS

When parents agree to NBS?

Signing of Waiver

When parents disagree to NBS

48th hour of life or at least 24 hours from birth (not later than 3 days)

Newborn Screening is ideally done on the

2 weeks

The baby must be screened again after ___ for more accurate results

ICU

7 days of age (to ensure survival)

Trained Physician, Nurse, Midwife, Medical Technologist

Who may collect the samples for newborn screening?

at least 4%

DOH’s Centers for Health Development fees

at least 4%

Newborn Screening Centers

at least 4%

NIH Newborn Screening Reference Center

DOH as the Lead Agency

– Establish Advisory Committee on NBS

– Develop implementing rules and regulations for implementation nationwide (180days) from enactment

– Defining testing protocols and quality assurance programs

– Coordinate with DILG and coordinate with Reference Center

Secretary of Health

Chairman of the Advisory Committee on NBS

Executive Director of NIH

Vice Chairperson of the Advisory Committee on NBS

At least twice a year

Meeting

NIH

Secretariat

3

3 representatives has how many years per term