Newborn Screening Act of 2004 (RA 9288) Flashcards
It is a non-diagnostic test because a series of follow-up procedures should be made to verify abnormal results.
Newborn Screening Procedure
What samples are collected during newborn screening
Urine an blood
What are the laboratory tests performed during newborn screening
Ferric chloride
Sodium nitroprusside clinitest
Guthrie test
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
Hearing Screening
It is usually done using oximetery on the baby’s hands and feet
Screening for critical congenital heart defects
What is the standard absorbance of spectrophotometer
2 wavelengths 605nm and 850nm
The foreskin is surgically removed revealing the tip of the penis
Circumcision
A monitor is placed on the newborn’s forehead for a few seconds; What test is this and what is this for
Guthrie test; Comprehensive screening test for Jaundice
It is a yellowish discoloration of skin mucous membrane and sclera
Jaundice
It is a semi quantitative bacterial inhibition assay; can also be applied in other disorders such as aminoacidopathies
Guthrie Test
What is the rationale of Newborn Screening
It enables early detection and management of certain metabolic disorders
It is associated with abnormal heme synthesis, hemoglobin variants, and globin synthesis
Hemoglobinopathies
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.
Hemoglobinopathy
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
Porphyrias
They are chemical intermediates (end products) in the synthesis of hemoglobin, myoglobin, and other respiratory pigments
Porphyrin
Characterized by presence of Hemoglobin S in a homozygous state
Sickle Cell Disease
Characterized by presence of Hemoglobin S in a homozygous state
Sickle Cell Trait
o It is a clinical condition in which erythrocytes become rigid and trapped in capillaries
Sickle Cell Anemia
In hemoglobin S what amino acid are substituted and in what position
Glutamic acid with valine on the 6th position of the beta chain
What disease are sickle ell anemia patients immune to
Malaria (Plasmodium falciparum)
In hemoglobin C what amino acid are substituted and in what position
lysine for glutamic acid on the 6th position of the beta chain
What is the most common mixed hemoglobinopathy
Hemoglobin SC Disease
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.
Hemoglobin SC Disease
In hemoglobin D disease, what amino acid is substituted and in what position
Glycine for glutamic acid in the 121st position of the beta chain
In hemoglobin E disease what amino acid is substituted and in what position
lysin at the 26th position of the beta chain
It is characterized by having __ amino acids added to the alpha chain caused by a replacement of terminator codon with a codon for ______
Hemoglobin Constant Spring; 31; Glutamine
What disease resembles hemoglobin constant spring
Alpha thalassemia
It is a QUANTITATIVE defect in the production of normal hemoglobin molecules
Thalassemia
Associated with gene deletion. Inheritance follows the Mendelian principle. α and βthalassemia are the most common.
Thalassemia
What are the hemoglobinopathies?
Porphyrias Sickle Cell Disease Hemoglobin C Disease Hemoglobin SC Disease Hemoglobin D Disease Hemoglobin Constant Spring
What are the endocrinopathies?
Congenital Hypothyroidism
Classic Adrenal Hyperplasia
It is characterized by the absence or poor functioning of the thyroid gland, resulting to reduced production of thyroxine (increased TSH)
Congenital Hypothyroidism
Thyroid hormone which increases thyroid stimulating hormone
Thyroxine
It aids in the development of CNS and brain, and regulation of metabolism
Thyroid Hormone
It is a condition that is caused by congenital hypothyroidism; can cause growth retardation, mental retardation, developmental delay, and other abnormal features
Cretinism
Clinical disorder characterized by a deficiency of the enzyme steroid 21-hydroxylase
Classic Adrenal Hyperplasia
It is responsible in production of adrenal hormones such as cortisol and aldosterone
21-hydroxylase
- Results to genital ambiguity in females and adrenal insufficiency and that presents with dehydration, hypoglycemia and hyperandrogenia.
Classic Adrenal Hyperplasia
Decrease of cortisol (regulation of carbohydrates)
Hypoglycemia
The accumulation in the levels of androgens
Hyperglycemia
It is the most common acidopathies
Phenylketonuria
Autosomal recessive disorder characterized by deficiency in phenylalanine hydroxylase that may result to severe mental retardation
Phenylketonuria
It is conditions characterized by deficiencies in a certain enzyme that can lead to defect of metabolism of amino acid
Aminoacidopathies
It is an enzyme responsible for conversion of phenylalanine to tyrosine. If not converted may lead to brain damage
Phenylalanine hydroxylase
It is the most common inborn error of metabolism in the PH
Maple Syrup Urine Disease (MSUD)
Defect in the metabolism of fatty acids
Fatty Acid Oxidation Disorders
Symptoms are asymptomatic but life threatening; experience vomiting, and seizure
Medium chain Acyl-CoA dehydrogenase deficiency
An autosomal recessive disorder characterized by a thick mucus in the lungs and digestive system resulting in respiratory infection and difficulty in food digestion
Cystic Fibrosis
Cystic fibrosis laboratory test; tend to produce abnormal secretion of electrolytes (sodium and chloride)
Sweat Test
Where shall the puncture be made on the foot of the baby
Lateral Plantar (sole) surface of the heel
What is the middle part of the heel of the baby for
Osteogenesis
What can be used to increase venous pressure in the foot
raising the leg; warm the area with soft cloth
What is the depth of the lancet
2mm or (1.66mm)
Why should the alcohol be dried before puncture
To prevent hemolysis
Why should the first drop of blood be wiped away
To prevent contamination of dead tissues
In total parenteral nutrition the sample should be collected within
48-72 hours
When was Newborn Screening Act approved
April 7, 2004
Who approved the Newborn Screening Act
Gloria Macapagal-Arroyo
What is the RA no. of Newborn Screening Act of 2004
RA 9288
Article I
General Provisions
Article II
Definition of Terms
Article III
Newborn Screening
Article IV
Implementation
Article V
Final Provisions
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.
Comprehensive Newborn Screening
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.
Follow-up
It is hospitals, health infirmaries, health centers, lying-in centers or puericulture centers with obstetrical and pediatric services
Health Institutions
National Institute of Health
UP Manila
Central Luzon
Angeles University Foundation Medical Center
Southern Luzon
Daniel Mercado Medical Center (Tanauan, Batangas)
Visayas
West Visayas State University Medical Center
Mindanao
Southern Philippines Medical Center
It is any condition that can result in mental retardation, physical deformity, or death if left undetected and untreated.
Heritable condition
A child from the time of complete delivery to 30 days old
Newborn
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
A facility equipped with a newborn screening laboratory that complies with the standards of NIH
Newborn Screening Center
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
Newborn Screening Reference Center
Who among the following acts as a secretariat of the advisory committee
Newborn Screening Reference Center
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
Recall
The various means of providing parents or legal guardians information about newborn screening
Parent Education
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
Treatment
When shall Newborn Screening be performed
after 24 hrs of life but not later than 3 days
If the newborn is in NICU, when shall Newborn Screening be performed
must be tested by 7 days of age
Can a legal guardian refuse newborn screening?
Yes provided that it is acknowledge in writing
Who requires health institutions to provide newborn screening services
DOH and Philippine Health Insurance Corporation (PHIC)
Who establishes the advisory committee on newborn screening
DOH
Who develops the rules and regulation of newborn screening program
DOH
How many days for the implementation of rules and regulations of newborn screening program
180 days
Who coordinates with the DILG for implementation of newborn screening program
DOH
Who coordinates with the NIH for accrediattion of Newborn Screening Centers and Quality Assurance Program
DOH
Who conducts continuing information, education, re-education and training programs for health personnel
DOH with assistance of NIH
Who disseminates information materials on newborn screening at least annually to all health personnel involved in maternal and pediatric care
DOH with assistance of NIH
Who reviews annually and recommend conditions to be included in the newborn screening panel of disorders
Advisory Committee on Newborn Screening
Who reviews and recommends the newborn screening fee to be charged by Newborn Screening Centers
Advisory Committee on Newborn Screening
What is the AO that mandates newborn screening fees
A.O. No. 2005 – 0005
Who reviews the report of the Newborn Screening Reference Center on the quality assurance
Advisory Committee on Newborn Screening
Who recommends corrective measures
Advisory Committee on Newborn Screening
How many members does the implementation committee have
8
Who is the chairman of the committee
Secretary of Health
Who is the vice chairperson of the committee
Executive Director of NIH
Who can be the 3 representative appointed by the secretary of health
Pediatrician, obstetrician, endocrinologist, family physician, nurse or midwife
Who is the secretariat of the committee
National Institute of Health
Who conducts the training for newborn screening
National Institute of Health
What should contain the Newborn Screening Reference Center
o National testing database and case registries
o Training
o Technical assistance
o Continuing education for laboratory staff
Who is responsible for drafting and ensuring good laboratory practice standards for newborn screening centers, including EQAP and certification program
NIH Newborn Screening Reference Center
Who shall be coordinated with for consolidation of patient database
NIH Newborn Screening Reference Center
Who maintains a national database of patients tested.
NIH Newborn Screening Reference Center
Who submits reports annually to the Committee and to DOH
NIH Newborn Screening Reference Center
How much is the cost of NBS collection kit
P550
How much is the allowable service fee
P50
Who mandates the cost of newborn screening
Philippine Health Insurance Corporation (PHIC)
