MTLBE RA 9288

B

What is the official title of Republic Act No. 9288?

• a. Expanded Newborn Screening Act of 2014

• b. Newborn Screening Act of 2004

• c. Universal Child Health and Survival Act

• d. National Expanded Newborn Care Act

A

When was Republic Act No. 9288 officially approved?

• a. April 7, 2004

• b. November 19, 2014

• c. November 5, 2018

• d. October 27, 2020

C

Which Administrative Order expanded the screening panel from 6 to 28 disorders but kept the shift to expanded newborn screening "optional" for health facilities?

• a. AO 2020-0052

• b. AO 2018-0025

• c. AO 2014-0045

• d. RA 9288

B

What major policy change was introduced by AO 2018-0025 regarding Expanded Newborn Screening (ENBS)?

• a. It established the Newborn Screening Continuity Clinics.

• b. It mandated the "full shift" requiring all facilities to provide the 28-panel ENBS.

• c. It established the Centers for Human Genetic Services (CHGS).

• d. It set the strict penalties for overpricing screening fees.

C

Which recent Administrative Order established the Centers for Human Genetic Services (CHGS) in Luzon, Visayas, and Mindanao to facilitate comprehensive clinical evaluation and management?

• a. AO 2014-0045

• b. AO 2018-0025

• c. AO 2020-0052

• d. AO 2008-0026

B

Under AO 2014-0045, what is the penalty for a health facility’s second offense of overpricing newborn screening fees?

• a. A strict warning

• b. Php 50,000 fine

• c. Php 100,000 fine

• d. Revocation of the facility's license

D

Which agency is designated as the lead agency in the implementation of the comprehensive newborn screening system under RA 9288?

• a. Philippine Health Insurance Corporation (PhilHealth)

• b. Newborn Screening Reference Center (NSRC)

• c. University of the Philippines National Institute of Health (UP-NIH)

• d. Department of Health (DOH)

D

Which institution serves as the National Reference Laboratory that performs confirmatory testing for the newborn screening program in the Philippines?

• a. Department of Health (DOH)

• b. World Health Organization (WHO)

• c. Research Institute for Tropical Medicine (RITM)

• d. University of the Philippines National Institute of Health (UP-NIH)

C

What is the standard biological sample collected for the newborn screening procedure?

• a. Venous blood from the antecubital fossa

• b. Arterial blood from the wrist

• c. Capillary blood blotted on absorbent paper from the heel

• d. Umbilical cord blood

A

According to the standard guidelines, what is the ideal time frame to perform newborn screening on a healthy baby?

• a. After 24 hours from birth up to 3 days

• b. immediately within the first 12 hours of life

• c. After 7 days from birth

• d. Between 7 to 14 days of life

A

If a newborn is admitted to the Neonatal Intensive Care Unit (NICU), until when is the infant exempted from the standard 3-day requirement for testing?

• a. Up to 7 days of age

• b. Up to 14 days of age

• c. Up to 21 days of age

• d. Up to 28 days of age

C

What is the only valid ground for a parent or legal guardian to refuse newborn screening for their child?

• a. Financial constraints

• b. Fear of the blood collection procedure

• c. Religious beliefs

• d. Preference for a private pediatrician's assessment

D

What terminology refers to the procedure of locating a newborn with a possible heritable condition to provide confirmatory testing and prompt treatment?

• a. Tracking

• b. Referral

• c. Registry

• d. Recall

B

How many members compose the Advisory Committee on Newborn Screening?

• a. 6

• b. 8

• c. 10

• d. 12

B

Who acts as the Vice Chairperson of the Advisory Committee on Newborn Screening?

• a. Secretary of Health

• b. Executive Director of the UP-NIH

• c. Director of the Newborn Screening Reference Center

• d. Undersecretary of the DILG

C

What terminology refers to an acute episode of illness caused by the accumulation of toxic metabolites in the body due to a missing or defective enzyme?

• a. Chronic exacerbation

• b. Hemolytic crisis

• c. Acute crisis

• d. Anaphylactic shock

B

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that predominantly affects:

• a. Females

• b. Males

• c. Both sexes equally

• d. Premature infants exclusively

A

What is the primary complication that occurs in individuals with G6PD deficiency when exposed to oxidative triggers like certain medicines, fava beans, or infections?

• a. Hemolysis leading to hemolytic crisis/anemia

• b. Severe dehydration

• c. Brain damage

• d. Mental retardation

B

Galactosemia is an autosomal recessive disorder caused by the deficiency of GALT. What does GALT stand for?

• a. Glucose-6-phosphate uridyl transferase

• b. Galactose-1-phosphate uridyl transferase

• c. Glycogen-1-phosphate uridyl transferase

• d. Glucagon-associated lactose transferase

B

A baby with galactosemia will start manifesting life-threatening symptoms, such as brain damage and liver enlargement, as early as the first week of life if exposed to:

• a. Soy-based formulas

• b. Milk or milk sugars (lactose)

• c. High-protein foods

• d. Fava beans

C

Which of the following is NOT a classic presentation of untreated Galactosemia?

• a. Cataracts

• b. Jaundice

• c. Ambiguous genitalia

• d. Enlarged liver and kidney damage

A

Phenylketonuria (PKU) is caused by the lack of phenylalanine hydroxylase. What is the normal function of this missing enzyme?

• a. It converts phenylalanine into tyrosine.

• b. It converts tyrosine into phenylalanine.

• c. It breaks down galactose into glucose.

• d. It synthesizes steroid 21-hydroxylase.

D

A distinct clinical "must-know" sign of undiagnosed and untreated Phenylketonuria (PKU) found in a baby's sweat and urine is:

• a. A sweet, maple syrup-like odor

• b. A fruity, acetone-like odor

• c. A cabbage-like odor

• d. A musty odor

B

Without early diagnosis and strict adherence to a special phenylalanine-restricted diet, PKU primarily leads to which devastating consequence?

• a. Hemolytic anemia

• b. Brain damage and mental retardation

• c. Liver cirrhosis

• d. Complete blindness

C

Ninety percent (90%) of Congenital Adrenal Hyperplasia (CAH) cases are caused by the lack of which specific enzyme?

• a. 11-beta-hydroxylase

• b. Galactose-1-phosphate uridyl transferase

• c. Steroid 21-hydroxylase

• d. Phenylalanine hydroxylase

B

Female infants with untreated Congenital Adrenal Hyperplasia (CAH) often present with which distinctive physical finding due to an increased production of androgens?

• a. Protruding tongue

• b. Ambiguous genitalia (pseudohermaphroditism)

• c. Severe albinism

• d. Microcephaly

A

A key, potentially life-threatening symptom of untreated Congenital Adrenal Hyperplasia (CAH) in babies is:

• a. Vomiting leading to severe dehydration

• b. Profound deafness

• c. Severe jaundice and cataracts

• d. Hemolytic crisis

A

Which of the following is considered a classic "must-know" clinical hallmark of Congenital Hypothyroidism in infants?

• a. Protruding tongue and hoarse voice

• b. Hyperactivity and seizures

• c. Microcephaly and albinism

• d. Musty smelling urine

B

If not promptly identified and treated within the first weeks of life, Congenital Hypothyroidism can result in which permanent complications?

• a. Blindness and liver failure

• b. Growth retardation, mental retardation, and deafness

• c. Ambiguous genitalia

• d. Hemolytic anemia

D

Maple Syrup Urine Disease (MSUD) is a metabolic disorder that causes a distinct sweet smell in the urine. It is characterized by the body's inability to break down specific branched-chain amino acids. Which amino acids build up to toxic levels in MSUD?

• a. Phenylalanine, tyrosine, and tryptophan

• b. Serine, threonine, and methionine

• c. Arginine, lysine, and histidine

• d. Leucine, isoleucine, and valine