RA 9288 Flashcards

1
Q

RA 9288

A

Newborn Screening Act of 2004

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2
Q

Date of approval:

A

April 7, 2004

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3
Q

Approved by:

A

Gloria Macapagal Arroyo

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4
Q

Number of sections:

A

19

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5
Q

The National Newborn Screening System shall
ensure that every baby born in the Philippines is offered the opportunity to undergo_____ and thus be spared from heritable conditions that can lead to______ if undetected and untreated.

A

newborn screening

mental retardation and death

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6
Q

means a newborn screening system that includes, but is not limited to, education of relevant stakeholders; collection and biochemical screening of blood samples taken from newborns; tracking and confirmatory testing to ensure the accuracy of screening results; clinical evaluation and biochemical/medical confirmation of test results; drugs and medical/surgical management and dietary supplementation to address the heritable conditions; and evaluation activities to assess long term outcome, patient compliance and quality assurance.

A

Comprehensive Newborn Screening System

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7
Q

means the monitoring of a newborn with a heritable condition for the purpose of ensuring that the newborn patient complies fully with the medicine of dietary prescriptions.

A

Follow-up

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8
Q

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

A

Health institutions

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9
Q

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

A

Healthcare practitioner

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10
Q

means 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.

A

Heritable condition

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11
Q

NIH - means the

A

National Institute of Health

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12
Q

Newborn
means a child from the time of complete delivery to___ days old.

A

30

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13
Q

means 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.

A

Newborn Screening

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14
Q

means 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/follow-up programs for newborns with heritable conditions.

A

Newborn Screening Center

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15
Q

means 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.

A

Newborn Screening Reference Center

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16
Q

means the various means of providing parents or legal guardians information about newborn screening.

A

Parent education

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17
Q

means a procedure for locating a newborn with a possible heritable condition for purposes of providing the newborn with appropriate laboratory to confirm the diagnosis and, as appropriate, provide treatment.

A

Recall

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18
Q

means 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.

A

Treatment

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19
Q

The central facility at the National Institutes of Health (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

Acts as the Secretariat of the Advisory Committee on Newborn Screening

A

Newborn Screening Reference Center

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20
Q

To ensure sustained inter-agency collaboration, the _________ is hereby created and made an integral part of the Office of the Secretary of the DOH.

A

Advisory Committee on Newborn Screening

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21
Q

Advisory Committee on Newborn Screening

The Committee shall

review________ and recommend conditions to be included in the newborn screening panel of disorders;

review and recommend the newborn screening_____ to be charged by Newborn Screening Centers;

review the_____ of the Newborn Screening Reference Center on the____ of the National Screening Centers and recommend corrective measures as deemed necessary.

A

annually

fee

report

quality assurance

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22
Q

The Committee shall be composed of eight (____) members, including the

Chairman:
Vice Chairperson:

A

The Committee shall be composed of eight (8) members, including the
Chairman: Secretary of Health
Vice Chairperson: Executive Director of the NIH

Secretary of Health

Executive Director of the NIH

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23
Q

Newborn screening centers

NSRC in NIH,

Visayas:
Mindanao:
Central Visayas:

A

UP-Manila

WVSUMC, Iloilo City
SPMC, Davao City
Mandaue City, Cebu

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24
Q

Newborn screening centers

Central Luzon:
Southern Luzon:
Northern Luzon:

A

Angeles City, Pampanga

Tanauan, Batangas

Batac, Ilocos Norte

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25
Q

Equipped to facilitate continuity of care/ long-term follow-up management of patients confirmed with heritable (including rare) conditions

A

Newborn Screening Continuity Clinics

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26
Q

of Newborn Screening Continuity Clinics

A

11 across the country

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27
Q

Expanded Newborn Screening
Additional disorders

CBOFAUH

A

The 6 diseases

Cystic fibrosis
Biotinidase disease
Organic acid disorders
Fatty acid oxidation disorders
Amino acid disorders
Urea cycle disorders
Hemoglobin disorders

28
Q

An amino acid disorder in which phenylalanine cannot be converted to tyrosine due to a deficiency or absence of the enzyme phenylalanine hydroxylase

A

Phenylketonuria (PKU)

29
Q

Phenylketonuria (PKU)

An amino acid disorder in which_____ cannot be converted to____ due to a deficiency or absence of the enzyme____

A

phenylalanine

tyrosine

phenylalanine hydroxylase

30
Q

Leads to increased levels of phenylalanine in the blood and tissues

A

PKU

31
Q

Elevated phenylalanine interferes with (3)

Competitively inhibits the uptake of neutral amino acids like tyrosine and tryptophan concentrations which are precursors of_____

A

Phenylketonuria (PKU)

myelination, synaptic sprouting, and dendritic pruning

neurotransmitters

32
Q

The most important and sometimes the only manifestation of PKU is_____

_____in urine may be observed

A

mental retardation

Mousy odor

33
Q

PKU

Dietary management

complete avoidance of food containing high amounts of____

_____intake of low protein/phenylalanine natural food

sufficient intake of ____ and____ to fulfill the energy requirements of the patient

calculated intake of phenylalanine-free ______ supplemented with vitamins, minerals and trace elements as the main source of protein

A

phenylalanine

calculated

fat and carbohydrates

amino acid mixture

34
Q

a defect or deficiency of the branched chain ketoacid dehydrogenase complex in which elevated quantities of leucine, isoleucine, valine, and their corresponding oxoacids accumulate in body fluids

A

Maple Syrup Urine Disease (MSUD)

35
Q

Maple Syrup Urine Disease (MSUD)

a defect or deficiency of the branched chain_______ in which elevated quantities of leucine, isoleucine, valine, and their corresponding oxoacids accumulate in body fluids

A

ketoacid dehydrogenase complex

36
Q

MSUD

An increase in_____ may cause competitive inhibition with other precursors of neurotransmitters causing the____ manifestations

A

leucine

neurologic

37
Q

_____ is the most severe and common form with symptoms of poor suck, lethargy, hypo and hypertonia, opisthotonic posturing, seizures, and coma developing 4-7 days after birth

Odor of maple syrup in urine may be detected as soon as_____ symptoms appear

A

Classical MSUD

neurological

38
Q

Classical MSUD is the most severe and common form with symptoms of poor suck, lethargy, hypo and hypertonia, opisthotonic posturing, seizures, and coma developing_____ days after birth

A

4-7

39
Q

MSUD Disease Management

Dietary restriction of______

A

branched-chain amino acids

leucine, isoleucine, and valine

40
Q

Congenital Adrenal Hyperplasia (CAH)

a group of disorders resulting from enzymatic defects in the biosynthesis of______

90% of CAH is due to

A

steroids

21- hydroxylase deficiency

41
Q

a group of disorders resulting from enzymatic defects in the biosynthesis of steroids

90% of CAH is due to 21- hydroxylase deficiency

A

Congenital Adrenal Hyperplasia (CAH)

42
Q

results in decreased cortisol and aldosterone production which in turn causes increased adrenocorticotropic hormone (ACTH) secretion and eventually leads to hyperplasia of the adrenal cortex

A

Congenital Adrenal Hyperplasia (CAH)

43
Q

Congenital Adrenal Hyperplasia (CAH)

_______manifest adrenal crisis in the first____ weeks of life

severe salt-losing crisis with _____ and _____

A

salt-wasting (SW) \ 2-4

hypoglycemia and hypotension

44
Q

affected females usually present with ambiguous genitalia

A

Congenital Adrenal Hyperplasia (CAH)

45
Q

CAH Disease Management

______ and _____replacement therapy

Female patients with prenatal virilization require surgical repair

A

Glucocorticoid and minaralocorticoid

46
Q

Thyroid hormone deficiency at birth

A

Congenital Hypothyroidism (CH)

47
Q

Most common etiology of CH is______: absent thyroid, ectopic, or hypoplastic thyroid

A

thyroid dysgenesis (TD)

48
Q

CH

Correct level of thyroid hormone ensures normal growth and normal development of the

A

brain, bones, and nervous system

49
Q

Congenital Hypothyroidism Management

Recommended treatment is the lifetime daily administration of____

Serum ______ and ____ should be monitored ar regular intervals

A

Levothyroxine

T4 or FT4 and TSH

50
Q

an inborn error of carbohydrate metabolism characterized by elevated levels of galactose and its metabolites due to enzyme deficiencies

A

Galactosemia (GAL)

51
Q

Galactosemia (GAL)

an inborn error of carbohydrate metabolism characterized by elevated levels of_____ and its metabolites due to enzyme deficiencies

A

galactose

52
Q

In classic galactosemia, the enzyme that is reduced or missing is called _______ which enables the body to break down galactose into glucose

A

galactose-1-phosphate uridyl transferase (GALT)

53
Q

feeding problems, failure to thrive (most common initial clinical symptom)—delayed growth, hepatocellular damage, bleeding, and sepsis in untreated infants which lead to mental retardation

A

Galactosemia (GAL)

54
Q

Galactosemia (GAL)

in approximately 10% of individuals, ____ are present

A

cataracts

55
Q

Galactosemia Management

Dietary elimination of_____
Alternative: ____formula

A

milk and milk products containing lactose

soy-based

56
Q

Most common heritable disease in the Philippines

A

Glucose-6-Phosphate Dehydrogenase Deficiency

57
Q

is needed for the first step of the hexose monophosphate pathway

Maintains glutathione in reduced form, an antioxidant that protects cells from oxidative damage

A

G6PD

58
Q

Causes______ induced by various oxidative stresses

patient presents sudden onset of____-colored urine, jaundice and pallor

dreaded effect of neonatal jaundice is_____ or the deposition of bilirubin which causes permanent damage to the brain or death

A

Glucose-6-Phosphate Dehydrogenase Deficiency

hemolytic anemia

tea

kernicterus

59
Q

G6PD Deficiency Management

Avoidance of_____
_____for acute hemolytic crisis

A

oxidative insults

Blood transfusions

60
Q

T or F

‘Any health practitioner who delivers, or assists in the delivery, of a newborn in the Philippines shall, prior to delivery, inform the parents or legal guardian of the newborn of the availability, nature and benefits of newborn screening

A

True

61
Q

Appropriate notification and education regarding this obligation shall be the responsibility of the

A

Department of Health (DOH)

62
Q

NEWBORN SCREENING
shall be performed after_- hours but not more than__ days after delivery

A

24

3

63
Q

newborns in ICU: should be tested within___ days

A

7

64
Q

TAT: ____working days (ENBS) from the time the NSC received the samples

A

7-14

65
Q

T or F

REFUSAL TO BE TESTED

parents or legal guardians may refuse to test their newborns

shall acknowledge in writing that refusal for testing exposes their newborns at risk

copy of the refusal: part of the official medical record

indicated in the database

A

True