Newborn Screening Act Flashcards
Title of RA 9288
Newborn screening act of 2004
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
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
hospitals, health infirmaries, health centers, lying-in centers or puericulture centers with
obstetrical and pediatric services, whether public or private.
Health Institutions
physicians, nurses,
midwives, nursing aides and traditional birth attendants.
Health Practitioner
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
National Institute of Health
NIH
a child from the time of complete
delivery to 30 days old.
Newborn
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 established by the NIH and provides all required
laboratory tests and recall/follow-up programs for
newborns with heritable conditions
Newborn screening center
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
various means of providing
parents or legal guardians information about newborn
screening.
Parent education
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
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
Newborn screening must be performed after ______ of life but not later than ______
24 hours; 3 days
A newborn that must be placed in
intensive care in order to ensure survival may be exempted
from the 3-day requirement but must be tested by ______ of days of age
7 days
shall require health institutions to provide newborn screening
services as a condition for licensure or accreditation.
DOH and Philippine Health Insurance Corporation (PHIC)
Develop the implementing rules and regulations for the
immediate implementation of a nationwide newborn
screening program within _____ from the enactment of this Act
180 days
Substrate, product, and enzyme of Congenital Hyperthyroidism
Substrate: Thyroglobulin.
Product: Triiodothyronine (T3) and thyroxine (T4).
Enzyme: Thyroid peroxidase and thyroglobulin.
Substrate, product, and enzyme of Congenital adrenal hyperplasia
Substrate: cholesterol, pregnenolone, or progesterone.
Product: adrenal steroid hormones.
Enzyme: 21-hydroxylase deficiency
Substrate, product, and enzyme of Homocystinuria
Substrate: Methionine.
Product: Homocysteine.
Enzyme: Deficiency in cystathionine beta-synthase or
defects in other enzymes involved in homocysteine
metabolism.
Substrate, product, and enzyme of Methionine Adenosine Transferase Deficiency
Substrate: Methionine.
Product: Adenosine.
Enzyme: Methionine adenosyltransferase
Substrate, product, and enzyme of Maple syrup urine disease
Substrate: Branched-chain amino acids.
Product: ketoacids
Enzyme: Branched-chain alpha-keto acid dehydrogenase complex
Substrate, product, and enzyme of Phenylketonuria
Substrate: Phenylalanine.
Product: phenylpyruvate and phenylacetate
Enzyme: Phenylalanine hydroxylase.
Substrate, product, and enzyme of Tyrosinemia Type 1 and Type 2
Substrate: Tyrosine.
Product: Various toxic metabolites.
Enzyme: fumarylacetoacetate hydrolase (type 1) or tyrosine aminotransferase (type 2)
Substrate, product, and enzyme of Sickle cell disease
Substrate: Hemoglobin.
Product: Abnormal hemoglobin S.
Enzyme: N/A (Structural mutation in the beta-globin
gene).
Substrate, product, and enzyme of Galactosemia
Substrate: Galactose.
Product: Various toxic metabolites.
Enzyme: galactose-1-phosphate
uridyltransferase (classic galactosemia) or other
enzymes in the galactose metabolism pathway
Substrate, product, and enzyme of Glucose 6 Phosphate Dehydrogenase (G6PD)
Deficiency
Substrate: Glucose 6-phosphate.
Product: 6-phosphogluconolactone.
Enzyme: Glucose 6-phosphate dehydrogenase.
Substrate, product, and enzyme of Cystic fibrosis
Substrate: Chloride ions.
Product: N/A (Abnormal chloride transport).
Enzyme: Cystic fibrosis transmembrane conductance
regulator (CFTR)
Substrate, product, and enzyme of Biotinidase deficiency
Substrate: Biotin.
Product: N/A (Impaired biotin recycling).
Enzyme: Biotinidase
