RA 9288 Flashcards
RA 9288
Newborn Screening Act of 2004
Date of approval:
April 7, 2004
Approved by:
Gloria Macapagal Arroyo
Number of sections:
19
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.
newborn screening
mental retardation and death
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.
Comprehensive Newborn Screening System
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.
Follow-up
mean hospitals, health infirmaries, health centers, lying-in centers or puericulture centers with obstetrical and pediatric services, whether public or private.
Health institutions
means physicians, nurses, midwives, nursing aides and traditional birth attendants.
Healthcare practitioner
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.
Heritable condition
NIH - means the
National Institute of Health
Newborn
means a child from the time of complete delivery to___ days old.
30
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.
Newborn Screening
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.
Newborn Screening Center
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.
Newborn Screening Reference Center
means the various means of providing parents or legal guardians information about newborn screening.
Parent education
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.
Recall
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.
Treatment
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
Newborn Screening Reference Center
To ensure sustained inter-agency collaboration, the _________ is hereby created and made an integral part of the Office of the Secretary of the DOH.
Advisory Committee on Newborn Screening
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.
annually
fee
report
quality assurance
The Committee shall be composed of eight (____) members, including the
Chairman:
Vice Chairperson:
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
Newborn screening centers
NSRC in NIH,
Visayas:
Mindanao:
Central Visayas:
UP-Manila
WVSUMC, Iloilo City
SPMC, Davao City
Mandaue City, Cebu
Newborn screening centers
Central Luzon:
Southern Luzon:
Northern Luzon:
Angeles City, Pampanga
Tanauan, Batangas
Batac, Ilocos Norte
Equipped to facilitate continuity of care/ long-term follow-up management of patients confirmed with heritable (including rare) conditions
Newborn Screening Continuity Clinics
of Newborn Screening Continuity Clinics
11 across the country
Expanded Newborn Screening
Additional disorders
CBOFAUH
The 6 diseases
Cystic fibrosis
Biotinidase disease
Organic acid disorders
Fatty acid oxidation disorders
Amino acid disorders
Urea cycle disorders
Hemoglobin disorders
An amino acid disorder in which phenylalanine cannot be converted to tyrosine due to a deficiency or absence of the enzyme phenylalanine hydroxylase
Phenylketonuria (PKU)
Phenylketonuria (PKU)
An amino acid disorder in which_____ cannot be converted to____ due to a deficiency or absence of the enzyme____
phenylalanine
tyrosine
phenylalanine hydroxylase
Leads to increased levels of phenylalanine in the blood and tissues
PKU
Elevated phenylalanine interferes with (3)
Competitively inhibits the uptake of neutral amino acids like tyrosine and tryptophan concentrations which are precursors of_____
Phenylketonuria (PKU)
myelination, synaptic sprouting, and dendritic pruning
neurotransmitters
The most important and sometimes the only manifestation of PKU is_____
_____in urine may be observed
mental retardation
Mousy odor
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
phenylalanine
calculated
fat and carbohydrates
amino acid mixture
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
Maple Syrup Urine Disease (MSUD)
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
ketoacid dehydrogenase complex
MSUD
An increase in_____ may cause competitive inhibition with other precursors of neurotransmitters causing the____ manifestations
leucine
neurologic
_____ 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
Classical MSUD
neurological
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
4-7
MSUD Disease Management
Dietary restriction of______
branched-chain amino acids
leucine, isoleucine, and valine
Congenital Adrenal Hyperplasia (CAH)
a group of disorders resulting from enzymatic defects in the biosynthesis of______
90% of CAH is due to
steroids
21- hydroxylase deficiency
a group of disorders resulting from enzymatic defects in the biosynthesis of steroids
90% of CAH is due to 21- hydroxylase deficiency
Congenital Adrenal Hyperplasia (CAH)
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
Congenital Adrenal Hyperplasia (CAH)
Congenital Adrenal Hyperplasia (CAH)
_______manifest adrenal crisis in the first____ weeks of life
severe salt-losing crisis with _____ and _____
salt-wasting (SW) \ 2-4
hypoglycemia and hypotension
affected females usually present with ambiguous genitalia
Congenital Adrenal Hyperplasia (CAH)
CAH Disease Management
______ and _____replacement therapy
Female patients with prenatal virilization require surgical repair
Glucocorticoid and minaralocorticoid
Thyroid hormone deficiency at birth
Congenital Hypothyroidism (CH)
Most common etiology of CH is______: absent thyroid, ectopic, or hypoplastic thyroid
thyroid dysgenesis (TD)
CH
Correct level of thyroid hormone ensures normal growth and normal development of the
brain, bones, and nervous system
Congenital Hypothyroidism Management
Recommended treatment is the lifetime daily administration of____
Serum ______ and ____ should be monitored ar regular intervals
Levothyroxine
T4 or FT4 and TSH
an inborn error of carbohydrate metabolism characterized by elevated levels of galactose and its metabolites due to enzyme deficiencies
Galactosemia (GAL)
Galactosemia (GAL)
an inborn error of carbohydrate metabolism characterized by elevated levels of_____ and its metabolites due to enzyme deficiencies
galactose
In classic galactosemia, the enzyme that is reduced or missing is called _______ which enables the body to break down galactose into glucose
galactose-1-phosphate uridyl transferase (GALT)
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
Galactosemia (GAL)
Galactosemia (GAL)
in approximately 10% of individuals, ____ are present
cataracts
Galactosemia Management
Dietary elimination of_____
Alternative: ____formula
milk and milk products containing lactose
soy-based
Most common heritable disease in the Philippines
Glucose-6-Phosphate Dehydrogenase Deficiency
is needed for the first step of the hexose monophosphate pathway
Maintains glutathione in reduced form, an antioxidant that protects cells from oxidative damage
G6PD
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
Glucose-6-Phosphate Dehydrogenase Deficiency
hemolytic anemia
tea
kernicterus
G6PD Deficiency Management
Avoidance of_____
_____for acute hemolytic crisis
oxidative insults
Blood transfusions
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
True
Appropriate notification and education regarding this obligation shall be the responsibility of the
Department of Health (DOH)
NEWBORN SCREENING
shall be performed after_- hours but not more than__ days after delivery
24
3
newborns in ICU: should be tested within___ days
7
TAT: ____working days (ENBS) from the time the NSC received the samples
7-14
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
True
