WEEK 8: R.A. 9288 - NEWBORN SCREENING ACT OF 2004

Follow-up

Monitoring of a newborn

Health Institutions

Hospitals, health infirmaries, health centers, lying-in centers, puericulture centers (public/private)

Health care practitioners

physicians, nurses, midwives, nursing aides, and traditional birth attendants

Heritable conditions

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

Mental retardation

Physical deformity

Death

Heritable conditions that can results in:

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 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

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

Severe Mental Retardation

Effect if Congenital Hypothyroidism is not screened

Death

Effect if Congenital Adrenal Hyperplasia is not screened

Death / Cataracts

Effect if Galactosemia is not screened

Severe Mental Retardation

Effect if Phenylketonuria is not screened

Severe Anemia, Kernicterus

Effect if G6PD Deficiency is not screened

Death

Effect if Maple Syrup Urine Disease is not screened

Normal

Effect if Congenital Hypothyroidism is screened

Alive and Normal

Effect if Congenital Adrenal Hyperplasia is screened

Alive and Normal

Effect if Galactosemia is screened

Normal

Effect if Phenylketonuria is screened

Normal

Effect if G6PD Deficiency is screened

Alive and Normal

Effect if Maple Syrup Urine Disease is screened

RA NO. 9288 - Newborn Screening Act of 2004

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

National Institute of Health (NIH)

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

National Institute of Health (NIH)

Reference Center for Newborn Screening

Copy of Refusal documentation

When the parent or legal guardian refuses for newborn screening on the grounds of religious beliefs, what kind of documents shall be made out of the newborn’s medical record?

Religious beliefs

Parent or legal guardians can refuse to newborn screening in what grounds?

24 hours of life but not later than 3 days

Collection time for Newborn Screening

NICU newborn

Exempted from the 3-days requirement but must be tested by 7 days of age

7 days of age

NICU newborns may be exempted to the 3-day requirement, but they must be tested by:

Lateral plantar surface of heel

SPECIFIC PLACE to puncture when using heel prick method

Heel prick method

A method used for newborn screening wherein few drops of blood are taken from the baby’s heel

Special absorbent filter card

Small drop of blood is collected for newborn screening and is blotted on:

4 hours

Blood must be dried for _____ before sent to Newborn screening center

Dried blood spots

Sample for Newborn Screening Test (must be exact answer!!)

Whole blood

Where is the dried blood spots derived from?

immediately within 4 hours

If (+) result for Newborn Screening, result must be released:

7 working days

If (-) result for Newborn Screening, result must be released ____ after receipt in NBS Lab

Lifetime Management

All of the congenital metabolic disorders require

2 NSC in Luzon

2 in Visayas

1 in Mindanao

Establishment of NSCs, depends on the overall demand in the country:

Comprehensive

Integrative

Sustainable

According to R.A. 9288 - Section 2: Declaration of Policy, the state shall institutionalize a national newborn screening system:

(characteristics of newborn screening)

8 members

According to R.A. 9288 - Section 11: Advisory Committee on Newborn Screening, how many members is needed for the committee?

National testing database

Case registries, training, technical assistance

Continuing education for laboratory staff

According to R.A. 9288 - Section 13: Establishment of a Newborn Screening Reference Center, NIH shall establish a NBS Reference Center with: (exact answers only…)

Screening

Management

Follow-up

Diagnosis

Quality Assurance

Components of the Philippine Newborn Screening System

April 07, 2004

Date of Approval of R.A 9288

Gloria Macapagal-Arroyo

President who approved the R.A 9288

Department of Health (DOH)

Lead agency in implementing this Act.

Department of Interior and Local Government (DILG)

• coordinate with the NIH Newborn Screening Reference Center for:

  • Accreditation of Newborn Screening Centers

Newborn Screening

• Enable early detection and management of certain metabolic disorders

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

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

Congenital hypothyroidism

Congenital adrenal hyperplasia

Phenylketonuria

Galactosemia

Glucose-6-phosphate dehydrogenase deficiency

Maple Syrup Urine Disease (MSUD)

Metabolic Disorders (Newborn Screening)

Congenital hypothyroidism / Cretinism

• Newborn babies who are unable to make enough thyroid hormone

• Diagnosis: T3, T4, TSH

• LOW levels of (T3 and T4)

• HIGH levels of (TSH)

T3

T4

TSH

Hormones for diagnosing Congenital hypothyroidism / cretinism

Congenital adrenal hyperplasia

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

21-Hydroxylase

The most common deficiency implicated in congenital adrenal hyperplasia

11-Hydroxylase

18-Hydroxylase

enzymes involved in adrenal steroid production

Cretinism

• Hypothyroidism developing in infancy or early childhood

• short stature

• severe mental retardation

• coarse facial features

• protruding tongue

• umbilical hernia

Phenylketonuria (PAH)

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

Phenylketonuria (PAH)

Patients have a mousy urine odor

phenylalanine hydroxylase

Missing enzyme of a baby with PKU

Phenylalanine

An essential amino acid that is broken down by an enzyme (phenylalanine hydroxylase)

Learning disabilities

Behavioral difficulties

Epilepsy

If phenylketonuria isn’t treated, it can lead to effects such as: (specific answers)

Brain (organs)

Nervous System (system)

Damages caused by PKU

FeCl3 tube test

Screening test for PKU

Urine

5% ferric chloride

In PKU Screening: FeCl3 tube test, what reagents used to produce permanent blue-green color?

Permanent blue-green color

In PKU Screening: FeCl3 tube test, what color is produced?

Guthrie Bacterial Inhibition test

A confirmatory test for PKU

Bacillus subtilis

this is cultured with beta2-thienylalanine

Beta2-thienylalanine

Inhibits the growth of B. subtilis

Phenylalanine

counteracts the action of beta2-thienylalanine

Positive Result

PKU test, what does it mean when a B. subtilis grew?

Robert Guthrie

PKU test, the earliest test is discovered by?

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

galactose-1-phosphate uridyltransferase

Most common enzyme deficiency implicated in galactosemia

Brain damage

Cataracts

Jaundice

Enlarged liver

Kidney damage

Symptoms and Manifestations for Galactosemia

Glucose-6-phosphate dehydrogenase (G6PD)

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

Maple Syrup Urine Disease (MSUD)

disorder caused by genetic mutations that inhibits the breakdown of certain amino acids

Maple Syrup Urine Disease (MSUD)

Urine smell is caramel / caramelized

DOH Memorandum No. 2012-0514

Inclusion of MSUD in the newborn screening panel of disorders

Maple Syrup Urine Disease (MSUD)

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

Leucine

Most common analyte detected in MSUD

Leucine

Isoleucine

Valine

In MSUD, what analytes levels are increased?

2,4-Dinitrophenylhydrazine (DNPH) test

Screening test for MSUD with (+) Yellow turbidity/precipitate

Yellow turbidity/precipitate

Color of positive result for MSUD

Amino acid chromatography

Confirmatory test for MSUD

FALSE

TRUE or FALSE.

Caramelized sugar/maple syrup odor of 2,4-Dinitrophenylhydrazine can be used for quantitatively detect the carbonyl functionality of ketone or aldehyde functional group

Seizure

Coma

Death

If MSUD is left untreated, it can lead to: (specific answers only)

21-Hydroxylase^a

Metabolic Profile:

• ^ 17-Hydroxyprogesterone, decrease cortisol

3B-Hydroxy dehydrogenase

Metabolic Profile: ^ Dehydroepiandrosterone (DHEA)

11B-Hydroxylase

Metabolic Profile: ^ 11-Deoxycortisol, decrease cortisol

17a-Hydroxylase

Metabolic Profile: ^ 17-Ketosteroids, decrease testosterone

18-Hydroxylase

Metabolic Profile: decrease Aldosterone, Increase ren