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MTLBE > Newborn Screening Act of 2004 (RA 9288) > Flashcards

Newborn Screening Act of 2004 (RA 9288) Flashcards

1
Q

It is a non-diagnostic test because a series of follow-up procedures should be made to verify abnormal results.

A

Newborn Screening Procedure

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2
Q

What samples are collected during newborn screening

A

Urine an blood

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3
Q

What are the laboratory tests performed during newborn screening

A

Ferric chloride
Sodium nitroprusside clinitest
Guthrie test

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4
Q

It is a non-painful procedure in which a baby is screened for any incidence of hearing loss not later than 1 month of age

A

Hearing Screening

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5
Q

It is usually done using oximetery on the baby’s hands and feet

A

Screening for critical congenital heart defects

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6
Q

What is the standard absorbance of spectrophotometer

A

2 wavelengths 605nm and 850nm

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7
Q

The foreskin is surgically removed revealing the tip of the penis

A

Circumcision

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8
Q

A monitor is placed on the newborn’s forehead for a few seconds; What test is this and what is this for

A

Guthrie test; Comprehensive screening test for Jaundice

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9
Q

It is a yellowish discoloration of skin mucous membrane and sclera

A

Jaundice

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10
Q

It is a semi quantitative bacterial inhibition assay; can also be applied in other disorders such as aminoacidopathies

A

Guthrie Test

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11
Q

What is the rationale of Newborn Screening

A

It enables early detection and management of certain metabolic disorders

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12
Q

It is associated with abnormal heme synthesis, hemoglobin variants, and globin synthesis

A

Hemoglobinopathies

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13
Q

QUALITATIVE defects in hemoglobin molecules that may result in group of disorders called hemoglobinopathies. It is associated with abnormal heme synthesis, hemoglobin variants, and globin synthesis.

A

Hemoglobinopathy

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14
Q

Characterized by a defect in one or more enzymes involved in heme synthesis resulting to accumulation of porphyrin in the bone marrow or the liver

A

Porphyrias

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15
Q

They are chemical intermediates (end products) in the synthesis of hemoglobin, myoglobin, and other respiratory pigments

A

Porphyrin

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16
Q

Characterized by presence of Hemoglobin S in a homozygous state

A

Sickle Cell Disease

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17
Q

Characterized by presence of Hemoglobin S in a homozygous state

A

Sickle Cell Trait

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18
Q

o It is a clinical condition in which erythrocytes become rigid and trapped in capillaries

A

Sickle Cell Anemia

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19
Q

In hemoglobin S what amino acid are substituted and in what position

A

Glutamic acid with valine on the 6th position of the beta chain

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20
Q

What disease are sickle ell anemia patients immune to

A

Malaria (Plasmodium falciparum)

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21
Q

In hemoglobin C what amino acid are substituted and in what position

A

lysine for glutamic acid on the 6th position of the beta chain

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22
Q

What is the most common mixed hemoglobinopathy

A

Hemoglobin SC Disease

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23
Q

It is a double heterozygous condition in which an abnormal S gene from one parent is inherited and an abnormal C gene from another parent is also inherited.

A

Hemoglobin SC Disease

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24
Q

In hemoglobin D disease, what amino acid is substituted and in what position

A

Glycine for glutamic acid in the 121st position of the beta chain

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25
Q

In hemoglobin E disease what amino acid is substituted and in what position

A

lysin at the 26th position of the beta chain

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26
Q

It is characterized by having __ amino acids added to the alpha chain caused by a replacement of terminator codon with a codon for ______

A

Hemoglobin Constant Spring; 31; Glutamine

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27
Q

What disease resembles hemoglobin constant spring

A

Alpha thalassemia

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28
Q

It is a QUANTITATIVE defect in the production of normal hemoglobin molecules

A

Thalassemia

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29
Q

Associated with gene deletion. Inheritance follows the Mendelian principle. α and βthalassemia are the most common.

A

Thalassemia

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30
Q

What are the hemoglobinopathies?

A 
Porphyrias
Sickle Cell Disease
Hemoglobin C Disease
Hemoglobin SC Disease
Hemoglobin D Disease
Hemoglobin Constant Spring
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31
Q

What are the endocrinopathies?

A

Congenital Hypothyroidism

Classic Adrenal Hyperplasia

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32
Q

It is characterized by the absence or poor functioning of the thyroid gland, resulting to reduced production of thyroxine (increased TSH)

A

Congenital Hypothyroidism

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33
Q

Thyroid hormone which increases thyroid stimulating hormone

A

Thyroxine

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34
Q

It aids in the development of CNS and brain, and regulation of metabolism

A

Thyroid Hormone

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35
Q

It is a condition that is caused by congenital hypothyroidism; can cause growth retardation, mental retardation, developmental delay, and other abnormal features

A

Cretinism

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36
Q

Clinical disorder characterized by a deficiency of the enzyme steroid 21-hydroxylase

A

Classic Adrenal Hyperplasia

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37
Q

It is responsible in production of adrenal hormones such as cortisol and aldosterone

A

21-hydroxylase

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38
Q
  • Results to genital ambiguity in females and adrenal insufficiency and that presents with dehydration, hypoglycemia and hyperandrogenia.
A

Classic Adrenal Hyperplasia

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39
Q

Decrease of cortisol (regulation of carbohydrates)

A

Hypoglycemia

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40
Q

The accumulation in the levels of androgens

A

Hyperglycemia

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41
Q

It is the most common acidopathies

A

Phenylketonuria

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42
Q

Autosomal recessive disorder characterized by deficiency in phenylalanine hydroxylase that may result to severe mental retardation

A

Phenylketonuria

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43
Q

It is conditions characterized by deficiencies in a certain enzyme that can lead to defect of metabolism of amino acid

A

Aminoacidopathies

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44
Q

It is an enzyme responsible for conversion of phenylalanine to tyrosine. If not converted may lead to brain damage

A

Phenylalanine hydroxylase

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45
Q

It is the most common inborn error of metabolism in the PH

A

Maple Syrup Urine Disease (MSUD)

46
Q

Defect in the metabolism of fatty acids

A

Fatty Acid Oxidation Disorders

47
Q

Symptoms are asymptomatic but life threatening; experience vomiting, and seizure

A

Medium chain Acyl-CoA dehydrogenase deficiency

48
Q

An autosomal recessive disorder characterized by a thick mucus in the lungs and digestive system resulting in respiratory infection and difficulty in food digestion

A

Cystic Fibrosis

49
Q

Cystic fibrosis laboratory test; tend to produce abnormal secretion of electrolytes (sodium and chloride)

A

Sweat Test

50
Q

Where shall the puncture be made on the foot of the baby

A

Lateral Plantar (sole) surface of the heel

51
Q

What is the middle part of the heel of the baby for

A

Osteogenesis

52
Q

What can be used to increase venous pressure in the foot

A

raising the leg; warm the area with soft cloth

53
Q

What is the depth of the lancet

A

2mm or (1.66mm)

54
Q

Why should the alcohol be dried before puncture

A

To prevent hemolysis

55
Q

Why should the first drop of blood be wiped away

A

To prevent contamination of dead tissues

56
Q

In total parenteral nutrition the sample should be collected within

A

48-72 hours

57
Q

When was Newborn Screening Act approved

A

April 7, 2004

58
Q

Who approved the Newborn Screening Act

A

Gloria Macapagal-Arroyo

59
Q

What is the RA no. of Newborn Screening Act of 2004

A

RA 9288

60
Q

Article I

A

General Provisions

61
Q

Article II

A

Definition of Terms

62
Q

Article III

A

Newborn Screening

63
Q

Article IV

A

Implementation

64
Q

Article V

A

Final Provisions

65
Q

It is a newborn screening system that includes:
 Education of relevant stakeholders
 Collection and biochemical screening of blood samples
 Clinical evaluation and biochemical/ medical confirmation of test results
 Drugs and medical/surgical management
 Dietary supplementation
 Evaluation activities to assess long term outcome, patient compliance and quality assurance.

A

Comprehensive Newborn Screening

66
Q

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

A

Follow-up

67
Q

It is hospitals, health infirmaries, health centers, lying-in centers or puericulture centers with obstetrical and pediatric services

A

Health Institutions

68
Q

National Institute of Health

A

UP Manila

69
Q

Central Luzon

A

Angeles University Foundation Medical Center

70
Q

Southern Luzon

A

Daniel Mercado Medical Center (Tanauan, Batangas)

71
Q

Visayas

A

West Visayas State University Medical Center

72
Q

Mindanao

A

Southern Philippines Medical Center

73
Q

It is any condition that can result in mental retardation, physical deformity, or death if left undetected and untreated.

A

Heritable condition

74
Q

A child from the time of complete delivery to 30 days old

A

Newborn

75
Q

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

76
Q

A facility equipped with a newborn screening laboratory that complies with the standards of NIH

A

Newborn Screening Center

77
Q

The central facility at the NIH that:
 defines testing and follow-up protocols,
 maintains 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

78
Q

Who among the following acts as a secretariat of the advisory committee

A

Newborn Screening Reference Center

79
Q

It is a procedure locating a newborn with a possible heritable condition for purposes of providing the newborn with appropriate laboratory to confirm the diagnosis and provide treatment

A

Recall

80
Q

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

A

Parent Education

81
Q

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

82
Q

When shall Newborn Screening be performed

A

after 24 hrs of life but not later than 3 days

83
Q

If the newborn is in NICU, when shall Newborn Screening be performed

A

must be tested by 7 days of age

84
Q

Can a legal guardian refuse newborn screening?

A

Yes provided that it is acknowledge in writing

85
Q

Who requires health institutions to provide newborn screening services

A

DOH and Philippine Health Insurance Corporation (PHIC)

86
Q

Who establishes the advisory committee on newborn screening

A

DOH

87
Q

Who develops the rules and regulation of newborn screening program

A

DOH

88
Q

How many days for the implementation of rules and regulations of newborn screening program

A

180 days

89
Q

Who coordinates with the DILG for implementation of newborn screening program

A

DOH

90
Q

Who coordinates with the NIH for accrediattion of Newborn Screening Centers and Quality Assurance Program

A

DOH

91
Q

Who conducts continuing information, education, re-education and training programs for health personnel

A

DOH with assistance of NIH

92
Q

Who disseminates information materials on newborn screening at least annually to all health personnel involved in maternal and pediatric care

A

DOH with assistance of NIH

93
Q

Who reviews annually and recommend conditions to be included in the newborn screening panel of disorders

A

Advisory Committee on Newborn Screening

94
Q

Who reviews and recommends the newborn screening fee to be charged by Newborn Screening Centers

A

Advisory Committee on Newborn Screening

95
Q

What is the AO that mandates newborn screening fees

A

A.O. No. 2005 – 0005

96
Q

Who reviews the report of the Newborn Screening Reference Center on the quality assurance

A

Advisory Committee on Newborn Screening

97
Q

Who recommends corrective measures

A

Advisory Committee on Newborn Screening

98
Q

How many members does the implementation committee have

A

8

99
Q

Who is the chairman of the committee

A

Secretary of Health

100
Q

Who is the vice chairperson of the committee

A

Executive Director of NIH

101
Q

Who can be the 3 representative appointed by the secretary of health

A

Pediatrician, obstetrician, endocrinologist, family physician, nurse or midwife

102
Q

Who is the secretariat of the committee

A

National Institute of Health

103
Q

Who conducts the training for newborn screening

A

National Institute of Health

104
Q

What should contain the Newborn Screening Reference Center

A

o National testing database and case registries
o Training
o Technical assistance
o Continuing education for laboratory staff

105
Q

Who is responsible for drafting and ensuring good laboratory practice standards for newborn screening centers, including EQAP and certification program

A

NIH Newborn Screening Reference Center

106
Q

Who shall be coordinated with for consolidation of patient database

A

NIH Newborn Screening Reference Center

107
Q

Who maintains a national database of patients tested.

A

NIH Newborn Screening Reference Center

108
Q

Who submits reports annually to the Committee and to DOH

A

NIH Newborn Screening Reference Center

109
Q

How much is the cost of NBS collection kit

A

P550

110
Q

How much is the allowable service fee

A

P50

111
Q

Who mandates the cost of newborn screening

A

Philippine Health Insurance Corporation (PHIC)

MTLBE (8 decks)

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