Newborn Screening Act of 2004 (RA 9288)

Question 1

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

Answer 1

Newborn Screening Procedure

Question 2

What samples are collected during newborn screening

Answer 2

Urine an blood

Question 3

What are the laboratory tests performed during newborn screening

Answer 3

Ferric chloride
Sodium nitroprusside clinitest
Guthrie test

Question 4

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

Answer 4

Hearing Screening

Question 5

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

Answer 5

Screening for critical congenital heart defects

Question 6

What is the standard absorbance of spectrophotometer

Answer 6

2 wavelengths 605nm and 850nm

Question 7

The foreskin is surgically removed revealing the tip of the penis

Answer 7

Circumcision

Question 8

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

Answer 8

Guthrie test; Comprehensive screening test for Jaundice

Question 9

It is a yellowish discoloration of skin mucous membrane and sclera

Answer 9

Jaundice

Question 10

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

Answer 10

Guthrie Test

Question 11

What is the rationale of Newborn Screening

Answer 11

It enables early detection and management of certain metabolic disorders

Question 12

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

Answer 12

Hemoglobinopathies

Question 13

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.

Answer 13

Hemoglobinopathy

Question 14

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

Answer 14

Porphyrias

Question 15

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

Answer 15

Porphyrin

Question 16

Characterized by presence of Hemoglobin S in a homozygous state

Answer 16

Sickle Cell Disease

Question 17

Characterized by presence of Hemoglobin S in a homozygous state

Answer 17

Sickle Cell Trait

Question 18

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

Answer 18

Sickle Cell Anemia

Question 19

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

Answer 19

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

Question 20

What disease are sickle ell anemia patients immune to

Answer 20

Malaria (Plasmodium falciparum)

Question 21

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

Answer 21

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

Question 22

What is the most common mixed hemoglobinopathy

Answer 22

Hemoglobin SC Disease

Question 23

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.

Answer 23

Hemoglobin SC Disease

Question 24

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

Answer 24

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

Question 25

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

Answer 25

lysin at the 26th position of the beta chain

Question 26

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

Answer 26

Hemoglobin Constant Spring; 31; Glutamine

Question 27

What disease resembles hemoglobin constant spring

Answer 27

Alpha thalassemia

Question 28

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

Answer 28

Thalassemia

Question 29

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

Answer 29

Thalassemia

Question 30

What are the hemoglobinopathies?

Answer 30

``` Porphyrias Sickle Cell Disease Hemoglobin C Disease Hemoglobin SC Disease Hemoglobin D Disease Hemoglobin Constant Spring ```

Question 31

What are the endocrinopathies?

Answer 31

Congenital Hypothyroidism | Classic Adrenal Hyperplasia

Question 32

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

Answer 32

Congenital Hypothyroidism

Question 33

Thyroid hormone which increases thyroid stimulating hormone

Answer 33

Thyroxine

Question 34

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

Answer 34

Thyroid Hormone

Question 35

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

Answer 35

Cretinism

Question 36

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

Answer 36

Classic Adrenal Hyperplasia

Question 37

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

Answer 37

21-hydroxylase

Question 38

- Results to genital ambiguity in females and adrenal insufficiency and that presents with dehydration, hypoglycemia and hyperandrogenia.

Answer 38

Classic Adrenal Hyperplasia

Question 39

Decrease of cortisol (regulation of carbohydrates)

Answer 39

Hypoglycemia

Question 40

The accumulation in the levels of androgens

Answer 40

Hyperglycemia

Question 41

It is the most common acidopathies

Answer 41

Phenylketonuria

Question 42

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

Answer 42

Phenylketonuria

Question 43

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

Answer 43

Aminoacidopathies

Question 44

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

Answer 44

Phenylalanine hydroxylase

Question 45

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

Answer 45

Maple Syrup Urine Disease (MSUD)

Question 46

Defect in the metabolism of fatty acids

Answer 46

Fatty Acid Oxidation Disorders

Question 47

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

Answer 47

Medium chain Acyl-CoA dehydrogenase deficiency

Question 48

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

Answer 48

Cystic Fibrosis

Question 49

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

Answer 49

Sweat Test

Question 50

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

Answer 50

Lateral Plantar (sole) surface of the heel

Question 51

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

Answer 51

Osteogenesis

Question 52

What can be used to increase venous pressure in the foot

Answer 52

raising the leg; warm the area with soft cloth

Question 53

What is the depth of the lancet

Answer 53

2mm or (1.66mm)

Question 54

Why should the alcohol be dried before puncture

Answer 54

To prevent hemolysis

Question 55

Why should the first drop of blood be wiped away

Answer 55

To prevent contamination of dead tissues

Question 56

In total parenteral nutrition the sample should be collected within

Answer 56

48-72 hours

Question 57

When was Newborn Screening Act approved

Answer 57

April 7, 2004

Question 58

Who approved the Newborn Screening Act

Answer 58

Gloria Macapagal-Arroyo

Question 59

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

Answer 59

RA 9288

Question 60

Article I

Answer 60

General Provisions

Question 61

Article II

Answer 61

Definition of Terms

Question 62

Article III

Answer 62

Newborn Screening

Question 63

Article IV

Answer 63

Implementation

Question 64

Article V

Answer 64

Final Provisions

Question 65

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.

Answer 65

Comprehensive Newborn Screening

Question 66

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.

Answer 66

Follow-up

Question 67

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

Answer 67

Health Institutions

Question 68

National Institute of Health

Answer 68

UP Manila

Question 69

Central Luzon

Answer 69

Angeles University Foundation Medical Center

Question 70

Southern Luzon

Answer 70

Daniel Mercado Medical Center (Tanauan, Batangas)

Question 71

Visayas

Answer 71

West Visayas State University Medical Center

Question 72

Mindanao

Answer 72

Southern Philippines Medical Center

Question 73

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

Answer 73

Heritable condition

Question 74

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

Answer 74

Newborn

Question 75

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

Answer 75

Newborn Screening

Question 76

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

Answer 76

Newborn Screening Center

Question 77

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

Answer 77

Newborn Screening Reference Center

Question 78

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

Answer 78

Newborn Screening Reference Center

Question 79

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

Answer 79

Recall

Question 80

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

Answer 80

Parent Education

Question 81

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

Answer 81

Treatment

Question 82

When shall Newborn Screening be performed

Answer 82

after 24 hrs of life but not later than 3 days

Question 83

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

Answer 83

must be tested by 7 days of age

Question 84

Can a legal guardian refuse newborn screening?

Answer 84

Yes provided that it is acknowledge in writing

Question 85

Who requires health institutions to provide newborn screening services

Answer 85

DOH and Philippine Health Insurance Corporation (PHIC)

Question 86

Who establishes the advisory committee on newborn screening

Answer 86

DOH

Question 87

Who develops the rules and regulation of newborn screening program

Answer 87

DOH

Question 88

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

Answer 88

180 days

Question 89

Who coordinates with the DILG for implementation of newborn screening program

Answer 89

DOH

Question 90

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

Answer 90

DOH

Question 91

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

Answer 91

DOH with assistance of NIH

Question 92

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

Answer 92

DOH with assistance of NIH

Question 93

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

Answer 93

Advisory Committee on Newborn Screening

Question 94

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

Answer 94

Advisory Committee on Newborn Screening

Question 95

What is the AO that mandates newborn screening fees

Answer 95

A.O. No. 2005 – 0005

Question 96

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

Answer 96

Advisory Committee on Newborn Screening

Question 97

Who recommends corrective measures

Answer 97

Advisory Committee on Newborn Screening

Question 98

How many members does the implementation committee have

Answer 98

8

Question 99

Who is the chairman of the committee

Answer 99

Secretary of Health

Question 100

Who is the vice chairperson of the committee

Answer 100

Executive Director of NIH

Question 101

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

Answer 101

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

Question 102

Who is the secretariat of the committee

Answer 102

National Institute of Health

Question 103

Who conducts the training for newborn screening

Answer 103

National Institute of Health

Question 104

What should contain the Newborn Screening Reference Center

Answer 104

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

Question 105

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

Answer 105

NIH Newborn Screening Reference Center

Question 106

Who shall be coordinated with for consolidation of patient database

Answer 106

NIH Newborn Screening Reference Center

Question 107

Who maintains a national database of patients tested.

Answer 107

NIH Newborn Screening Reference Center

Question 108

Who submits reports annually to the Committee and to DOH

Answer 108

NIH Newborn Screening Reference Center

Question 109

How much is the cost of NBS collection kit

Answer 109

P550

Question 110

How much is the allowable service fee

Answer 110

P50

Question 111

Who mandates the cost of newborn screening

Answer 111

Philippine Health Insurance Corporation (PHIC)