RA 9288 | Newborn Screening

RA 9288

This is also known as the Newborn Screening Act of 2004

19

RA 9288 is composed of how many sections?

5

RA 9288 is composed of how many articles?

RA 9288 - Newborn Screening Act of 2004

This is an act promulgating a comprehensive policy and a national system for ensuring newborn screening

Newborn Screening Act of 2004

RA 9288 is entitled?

April 7, 2004

When was RA 9288 approved?

Gloria Macapagal-Arroyo

Who approved RA 9288

Newborn Screening

Enable the early detection and management of certain metabolic disorders

Nuh uhh

It is non-mandatory but highly encourage by medical professionals

Yea uhh or Nuh uhh

Newborn Screening mandatory to neonate

Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Phenylketonuria
Galactosemia
Glucose-6-Phosphate Dehydrogenase Deficiency
Maple Syrup Urine Disease

It is an enzymatic deficiency and if it is left untreated, may lead to mental retardation and death (CH, CAH, Pk, Gs, G6PDD, MSUD)

○ Congenital Hypothyroidism
○ Congenital Adrenal Hyperplasia
○ Phenylketonuria
○ Galactosemia
○ Glucose-6-Phosphate Dehydrogenase Deficiency
○ Maple Syrup Urine Disease (MSUD)

Enumerate the different metabolic disorders that are covered in newborn screening?

Congenital Hypothyroidism

This also known as Cretinism

Cretinism or Congenital Hypothyroidism

This is a hypothyroidism developing in infancy or early childhood

● Short stature
● Severe mental retardation
● Coarse facial features
● Protruding tongue
● Umbilical hernia
● Decrease or low levels of T3 (Triiodothyronine) and T4 (Thyroxine), and high levels of TSH (Thyroid Stimulating Hormone)

Neonates with cretinism can be characterized by?

Cretinism or Congenital Hypothyroidism

A disease wherein a newborn baby is unable to make enough thyroid hormone (T3, T4, TSH)

T3
T4
TSH

What are the hormones involved in Cretinism or Congenital Hypothyroidism

Thyroid Hormone

Hormones that regulate the body's metabolic rate, growth, and development

Anterior Pituitary Gland

Which gland secretes TSH?

Yea uhh

Yea uhh or Nuh uhh

Congenital Hypothyroidism is a hormonal disorder

congenital adrenal hyperplasia

People with this disorder lack one of the enzyme (i.e., 21-, 11-, 18-hydroxylase) needed for proper function of adrenal glands

● 21-Hydroxylase
● 11-Hydroxylase
● 18-Hydroxylase

These are the enzymes that people with Congenital Adrenal Hyperplasia lacks; or impaired

Congenital Adrenal Hyperplasia

Caused by the deficiency of androgens and zona reticularis which are sex hormones

Androgens

Hormones that contribute to growth and reproduction in both men and women

Yea uhh

Yea uhh or Nuh uhh

The female body naturally produces a small amount of androgens

Zona Reticularis

Responsible for the production of adrenal androgens

Enlarge penis
Failure to regain birth weight
Weight loss
Dehydration
Vomiting
Precocious puberty
Rapid growth during childhood but shorter than average final height

What are the symptoms when Congenital Adrenal Hyperplasia is seen in males

Ambiguous genitalia
Infertility
Irregular or absent menstruation
Masculine characteristics
Failure to regain birth weight
Weight loss
Dehydration
Vomiting
Precocious puberty
Rapid growth during childhood but shorter than average final height

What are the symptoms when Congenital Adrenal Hyperplasia is seen in females

Phenylalanine Hydroxylase

When a baby has Phenylketonuria, which enzyme is missing?

Phenylalanine Hydroxylase

Enzyme needed to break down an essential amino acid called phenylalanine

Phenylketonuria

A disease that is characterized by a mousy-odor urine

Phenylalanine

If your acquire Phenylketonuria, which amino acid can't be broken down?

● Learning disabilities
● Behavioral difficulties
● Epilepsy

If phenylketonuria is not treated properly, this can lead to?

FeCl₃ tube test

What is the screening test for phenylketonuria?

Blue to Green

In FeCl₃ tube test, it indicates positive when the urine turns to what color?

Urine & 5% ferric chloride

Components used in FeCl₃ tube test

Guthrie Bacterial Inhibition Test

What is the confirmatory test for phenylketonuria?

Bacillus subtilis

What is the bacteria used in Guthrie Bacterial Inhibition Test?

Beta₂-thienylalanine

What inhibits the growth of Bacillus subtilis?

absence

In Guthrie Bacterial Inhibition Test, if there's a (absence/presence) of phenylalanine; the baby is positive for phenylketonuria

Yea uhh

Yea uhh or Nuh uhh

Absence of phenylalanine will not counteract the beta₂-thienylalanine that would yield to negative result

Galactosemia

An inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait

Galactosemia

This results in the accumulation of the sugar galactose in the body

Galactosemia

This is the inability to metabolize galactose in the body

● Galactokinase
● Galactose-1-PhosphateUridyltransferase (GALT 1)
● UDP Galactose 4'-Epimerase (GALE)

Enumerate the enzymes affected by galactosemia

Galactose

A monosaccharide that is a very vital component of infant milk or even breast milk

Unmetabolized milk sugars build up and can cause damage in the liver, kidneys, and brain

What would happen if a galactosemic infant is given milk?

Brain Damage
Cataracts
Jaundice
Hepatomegaly
Kidney damage

Signs and Symptoms for Galactosemia

jaundice

It refers to the Yellow discoloration of the skin

Hepatomegaly

It refers to enlarged liver

Glucose-6-Phosphate Dehydrogenase

This is the 2nd enzyme needed for the glycolytic pathway

Glucose-6-Phosphate Dehydrogenase Deficiency

- Recognised as an important enzyme in glucose metabolism
- Its deficiency is commonly associated with a number of hereditary disorder

Glycolytic Pathway

A very important pathway to metabolize glucose

nicotinamide adenine dinucleotide

If a person has a deficiency in G6PD, it will lead to an inadequate supply of?

Glutathione

A very important protector against free radicals and hemoglobin oxidation

● Jaundice
● Dark tea-colored urine
● Back pain

Symptoms of G6PD Deficiency

Dark tea-colored urine

What is the color of urine when it has a presence of lysed RBC

Maple Syrup Urine Disease

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

Maple Syrup Urine Disease

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

2, 4-Dinitrophenylhydrazine (DNPH)Test

What is the Screening test for Maple Syrup Urine Disease

Yellow turbidity or precipitate

Indication if a person tested positive for 2, 4-Dinitrophenylhydrazine (DNPH)Test

Amino acid chromatography

What is the Confirmatory test for Maple Syrup Urine Disease

2012, DOH memorandum no. 2012-0154

When was Maple syrup urine disease added to RA 9288? Also, under what memorandum order?

● Vomiting
● Lethargy
● Developmental delay
● Avoiding food
● Urine that smells like maple syrup

Symptoms of Maple syrup urine disease

○ Seizures
○ Coma
○ Death

If Maple syrup urine disease is left untreated, it can lead to?

UP Diliman

The national reference laboratory for newborn screening

National Institute of Health

This is where the Newborn Screening Reference Center is located

National Institute of Health

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

F

The parent may refuse, it is not mandatory

T or F

A parent or a legal guardian cannot refuse for the screening of their newly born child, it is always required

24 hours of life but not later than 3 days from complete delivery

Collection (Blood spot) is done after?

7 days of age

If a newborn is placed in a NICU, collection (blood spot) should be done within?

Medical technologist

Who performed newborn screening procedures?

lateral side of the plantar surface of the heel

What is the specific site where the medtech collects blood in newborn screening

4 hours

Before the collected blood is sent out, it is dried for how many minutes/hours

24 hours

In newborn screening, if the result is positive, it should be released within?

7 working days after receipt in the NBS laboratory

In newborn screening, if the result is negative, it should be released within?

Severe mental retardation

What is the effect if Congenital Hypothyroidism is not screened?

Death

What is the effect if Congenital Adrenal Hyperplasia is not screened?

Cataracts death

What is the effect if Galactosemia is not screened?

Severe mental retardation

What is the effect if Phenylketonuria is not screened?

Severe anemia
Kernicterus

What is the effect if G6PD Deficiency is not screened?

Death

What is the effect if Maple Syrup Urine Disease is not screened?

2,2,1

How many newborn screening center are there in:
Luzon
Visayas
Mindanao

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 or dietary prescriptions

Health Institutions

Hospitals, health infirmaries, health centers, lying-in centers, or puericulture centers with obstetrical and pediatric services, whether public or private

Comprehensive Newborn Screening System

A newborn screening system that includes, but is not limited to,
1. Education of relevant stakeholders
2. Collection and biochemical screening of blood samples taken from newborns
3. Tracking and confirmatory testing to ensure the accuracy of screening results
4. Clinical evaluation and biochemical or medical confirmation of test results

Healthcare Practitioner

Physicians, nurses, midwives, 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

False

T or F

Heritable and Hereditable is the same thing, they are just used interchangeably

National Institute of Health

NIH stands for?

Newborn

Refers to 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

A facility equipped with a newborn screening laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall or 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 testing 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

Licensing and Accreditation

Section 9 of RA 9288 is entitled?

Continuing Education, Re-education, and Training Health Personnel

Section 8 of RA 9288 is entitled?

Department of Health

Who is the lead agency in newborn screening and establish the advisory committee in newborn screening

Advisory Committee on Newborn Screening

Section 11 of RA 9288 is entitled?