(Finals) Newborn Screening Flashcards
RA 9288
Year
Ye 2004
Screening of infants after birth for certain treatable congenital metabolic conditions that may lead to mental retardation or death if untreated which are not clinically evident during the newborn (birth to 30 days old) period
NEWBORN SCREENING (NBS)
NBS/RA9288
Enacted by congress when?
April 2004
TOF. Babies look normal at birth but develop manifestations within the next two weeks when effects may already be irreversible
T
Benefits of NBS
® Early diagnosis and
® intervention
® reduced financial burgen
Highlights, except?
A. establishes and integrate a sustainable screening system
B. every newborn has access to screening for certain heritable conditions
C.ensures that parents recognize their responsibility
D. all health practitioners are aware of the advantages of newborn screening
E. NOTA
E
First disorder that was screened in the USA
Phenylketonuria
Panel of Disorders
TOF. screening now covers more diseases but coverage
vary between countries
T
Results from lack or absence of thyroid hormone most commonly due to dysgenesis of thyroid gland,rarely due to dyshormonogenetic goiter
CONGENITAL HYPOTHYROIDISM
This disease can result to Cretinism
CONGENITAL HYPOTHYROIDISM
CONGENITAL HYPOTHYROIDISM
Screening
A. Measuring thyroxin (T4)
B. thyrotroin (Thyroid
Stimulating Hormone)
C. Both
E. NOTA
C
T4 is low and TSH level is high (heel stick test)
CONGENITAL HYPOTHYROIDISM
TOF. In terms of treatment, hormone replacement, must be initiated within 5 weeks.
F (2)
This disorder requires initiation of therapy within two weeks after birth, or else the baby will develop growth defects and intellectual disability.
Autosomal Recessive metabolic disorder with deficiency of particular enzyme in the biosynthesis of cortical steroid
CONGENITAL ADRENAL HYPERPLASIA
CONGENITAL ADRENAL HYPERPLASIA
pattern of inheritance
AR
CONGENITAL ADRENAL HYPERPLASIA
90% of cases which leads to cortisol and
mineralocorticoid deficiency
21-hydroxylase deficiency
CONGENITAL ADRENAL HYPERPLASIA
With the decrease of cortisol there will be a feedback that will increase ACTH that will eventually lead to hyperplasia of the?
adrenal glands
Steroidogenesis is channeled to other pathways -> increased androgen in boys and girls -> causes?
virilization
apperance of hair
promotes sodium reabsorption in the kidney in exchange of potassium, because of that lack of aldosterone
Aldosterone
CONGENITAL ADRENAL HYPERPLASIA
decrease of sodium
hyponatremia
CONGENITAL ADRENAL HYPERPLASIA
Primary marker used in screening CAH
17 - hydroxyprogesterone
hydroxyprogesterone
detection, except:
A. autoradiography
B. Enzyme-linked Immunosorbent assay
C. Trandem mass spectrometry
D. All of the Above
A
CAH Detection
This is done to reduce false positive result in the testing.
Tandem Mass Spectrometry
Autosomal Recessive, disorder of galactose metabolism
galactosemia
GALACTOSEMIA
TOF. Babies are unable to process galactose which is the sugar present in milk.
T
GALACTOSEMIA
Accumulation of Galactose-1-PO4, except:
A. Liver, lens of the eye, cerebral cortex, spleen,
kidneys, heart muscle and RBC
B. Intestinal microvilli
C. Galacticol, galactonate
D. NOTA
D
GALACTOSEMIA
Galactose upon the action of ________, will be converted to galactose-1-phosphate + ADP
galactokinase
GALACTOSEMIA
galactose-1-phosphate will be
converted by ________________ to UDP-galactose and glucose-1-phosphate
Galactose-1 phosphate uridyl transferase
GALACTOSEMIA
This UDP-galactose will be converted to?
UDP-Glucose
GALACTOSEMIA
TOF. Patients with this conditions are seen to be normal.
F
Patients with this condition are seen to have failure to thrive, they have jaundice
GALACTOSEMIA
This accumulation can cause formation of cataract within few weeks after birth
Galacticol accumulation
GALACTOSEMIA
loss of nerve cells, gliosis, and can also cause edema (MR in 6-12 months)
CNS
GALACTOSEMIA
Due to the impaired amino acid transport of the kidney, it will secret?
aminoaciduria
