MCN REVIEWER FOR FINALS MODULE4C
NEWBORN SCREENING REPUBLIC ACT 9288
❖ Laboratory results indicating an increased risk of
NEWBORN SCREENING REPUBLIC ACT 9288
a heritable disorder shall be immediately
❖ A public health program that aimed at the early
released, within twenty four (24) hours followed
identification of infants who are affected by
by confirmatory testing can be immediately
certain genetic, metabolic/infectious conditions.
done.
❖ Newborn screening (NBS) is a simple procedure
to find out if baby has a congenital metabolic
disorder that may lead to mental retardation
and even death if left untreated. Using heel prick
NEWBORN SCREENING
method, a few drops of blood are taken from the
SAMPLE OBTAINED AT
baby’s heel and blotted on a special absorbent
BIRTHING CENTER
filter card. The blood is air dried for 4 hours and
sent to the Newborn Screening Laboratory in
Manila.
SAMPLE IF SENT TO
❖
LABORATORY FOR NBS
ANALYSIS
SIGNIFICANCE OF NEWBORN SCREENING
Most babies with metabolic disorders look normal
at birth
Onset of signs and symptoms
Irreversible
WHEN IS NEWBORN SCREENING DONE?
❖ Newborn screening is ideally done on the 48th
hour or at least 24 hours from birth.
❖ The baby must be screening again after 2 weeks
for more accurate results
WHEN ARE THE NEWBORN SCREENING RESULTS
AVAILABLE?
❖ Seven (7) working days from the time the
newborn screening samples are received.
RONIELIE CEREBO CERBAS BSN2J USA
NEGATIVE RESULTS
NO FURTHER FOLLOW
UP IS REQUIRED
FOLLOW UP TESTING
IS NORMAL. BABY IS
NOT AT INCREASED
RISK TO HAVE AN
INHERITED
METABOLIC DISEASE
POSITIVE RESULTS
FURTHER FOLLOW UP
TESTING IS REQUIRED
FOLLOW UP TESTING
REVEALS THAT BABY
HAS A SPECIFIC
DISORDER. TREATMENT
IS STARTED
IMMEDIATELY
WHO MAY COLLECT THE SAMPLE FOR NEWBORN?
A trained …
❖ PHYSICIAN
❖ NURSE
❖ MIDWIFE
❖ MEDICAL TECHNOLOGIST
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MCN REVIEWER FOR FINALS MODULE4C
NEWBORN SCREENING REPUBLIC ACT 9288
c)main regulator of body temperature
d) helps maintain heart rate
THE 5 METABOLIC DISORDERS BEING IDENTIFIED
e) helps in normalcy of bowel movements.
BY NEWBORN SCREENING
❖ TRI-IODOTHYRONINE (T3)
❖ THYROXIN (T4)- crucial for normal growth and
development of the body and brain among
newborns.
Thyroid gland is regulated by…
a)HYPOTHALAMUS- produces THYROTROPIN
RELEASING HORMONE TRH
b)PITUITARY GLAND- produces THS
❖ TRH stimulates the pituitary gland to produce
THYROID STIMULATING HORMONE TSH
1) CONGENITAL HYPOTHYROIDISM
NORMAL PATHOPHYSIOLOGY
Low thyroid hormone level in circulation
Hypothalamus releases TRH
Pituitary gland releases TSH
❖ Congenital means existing at birth (inherited).
❖ Hypothyroidism is a condition in which the
person does not make enough thyroid hormone.
Caused by…
a)defective development of thyroid gland
b)development of thyroid gland in an abnormal
location
c)maternal intake of anti-thyroid medication or
excess iodine
d) an inherent defect in manufacturing the thyroid
hormone
Thyroid hormone functions…
a)responsible for normal function of certain body
organs and is essential for normal brain
development.
b)controls the development of muscles and bones
as well as growth of teeth.
RONIELIE CEREBO CERBAS BSN2J USA
Stimulates thyroid gland to release thyroid
hormone (T3 and T4) into bloodstream
PT gland detects adequate hormone levels in body
Slows down production of TSH
Clinical Manifestation…
A)JAUNDICE
B)POOR MUSCLE TONE
C)LOW BODY TEMPERATURE
D)LONG PROTUDING TONGUE
E)LARGE ANTERIOR FONTANEL
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NEWBORN SCREENING REPUBLIC ACT 9288
F)UMBILICAL HERNIA
❖ Hyperplasia means an abnormal increase in the
Goals of treatment…
number of cells that make up an organ or tissue.
a)maintain the T4 level of the client above the
This causes the organ or tissue to enlarge.
normal range
Adrenal Glands releases hormones…
b)maintain TSH level in normal range (below 10
a.)Epinephrine or Adrenaline-Secreted by adrenal
mIU/L)
medulla, the fight or flight hormones. Prepares the
c) avoid overtreatment
body for vigorous physical activity.
-premature closure of cranial sutures and
b.)Cortisol- the “Stress hormones” helps body cope
fontanelles
with stressful situations protective mechanism of
d)provide psychological support to the family
the body against illness or injury. Helps control
Management…
blood pressure, blood sugar and heart function.
Thyroid Replacement before 2 weeks old
Not having enough cortisol can be life threatening
TREATMENT:
because it can lead to shock (dangerously low blood
L-THYROXINE tablet from for babies with
pressure), which is also known as an “adrenal crisis”
CH- crushed into food or dissolved into a small
c.)Aldosterone- the salt retaining hormone
amount of formula, juice or other liquid.
BLOOD PRESSURE DROPS
NOTE: DO NOT GIVE
Soy-based formulas and iron supplementsreduce the amount of absorption.
SECOND SENSE BY PITUITARY GLAND
2.)CONGENITAL ADRENAL HYPERPLASIA
RELEASE ACTH
STIMULATES ADRENAL GLANDS
❖ A disorder present at birth and characterized by
abnormalities in the production of certain
hormones of the adrenal glands.
❖ An endocrine disorder caused by abnormalities
in specific enzyme caused by abnormalities in
specific enzyme of the adrenal gland that causes
serve salt lose, dehydration and abnormally
high levels of male sex hormones in both boys
and girls.
❖ If not detected and treated early, babies may die
within 7-14 days.
RONIELIE CEREBO CERBAS BSN2J USA
DIRECTS OUR KIDNEYS TO PULL SALT AND WATER
OUT OF URINE AND PUT IT BACK INTO THE BLOOD
RAISES BP BACK TO NORMAL AND PREVENTS
BODY FROM LOSING TOO MUCH LIQUID
Adrenal cortex hormones….
ANDROGEN MALE HORMONE- stimulate the
development of male sexual characteristics.
PITUITARY GLAND- responsible for giving
commands to different glands of the body
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MCN REVIEWER FOR FINALS MODULE4C
NEWBORN SCREENING REPUBLIC ACT 9288
-releases hormones ACTH
(Adrenocorticotrophic hormone)
-Stimulates the production of
adrenal hormones.
Clinical Manifestation…
❖ SALT WASTING
-deficient aldosterone – will start losing too
much water and salt via urine- dehydration and very
low blood pressure. This can be life-threatening if
not treated right away.
❖ Listlessness and drowsiness
❖ Dehydration
❖ Weight loss
❖ Low blood pressure
❖ Low blood salt
❖ Too much acid in the blood, called metabolic
acidosis.
If not treated…
Severe dehydration leads to shock, a serious
situation in which not enough blood is getting to the
brain and other organs called the “adrenal crisis”.
The signs of an adrenal crisis include;
❖ Confusion
❖ Irritability
❖ Rapid heart rate
❖ Coma
RONIELIE CEREBO CERBAS BSN2J USA
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MCN REVIEWER FOR FINALS MODULE4C
NEWBORN SCREENING REPUBLIC ACT 9288
❖ Gal is a condition in which the body is unable to
process galactose, the sugar present in the milk.
Accumulation of excessive galactose in the body
can cause many problems, including liver
damage, brain damage and cataracts.
❖ An inherited disorder that lacks an enzyme
(galactose-1-phosphate uridyl transferase/Gal1-PUT) which helps the body break down the
galactose.
3.)GALACTOSEMIA/GAL
RONIELIE CEREBO CERBAS BSN2J USA
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NEWBORN SCREENING REPUBLIC ACT 9288
Management….
❖ Avoid milk and milk products substituted with
lactose free or galactose free milk such us Soybased milk formula.
❖
❖ Galactose-restricted diet must be followed for
life and requires close supervision and
monitoring.
4.)PHENYLKETONURIA/PKU
❖ PKU is an autosomal recessive metabolic
disorder in which the body cannot properly use
one of the building block of protein called
phenylalanine, and essential amino acid that
converts into tyrosine causing evaluation of
phenylalanine in the blood.
❖ Phenylalanine is neurotoxic
❖ Excessive accumulation of phenylalanine in the
body causes brain damage.
RONIELIE CEREBO CERBAS BSN2J USA
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MCN REVIEWER FOR FINALS MODULE4C
NEWBORN SCREENING REPUBLIC ACT 9288
5.)G6PD Deficiency
❖ Glucose 6 phosphate dehydrogenase deficiency
❖ Is an inherited condition in which the body lacks
the enzymes g6pd, which helps red blood cells
function normally.
❖ This deficiency can cause hemolytic anemia,
usually after exposure to certain medications,
foods, or even infections.
❖ Is an X-linked hereditary disease, which means it
is cause by a defective gene effects males almost
exclusively and is transmitted by the mother
only to sone or daughter who will become
another carrier.
❖ Is one of many enzymes that helps the body
process carbohydrates and turn them into
energy.
❖ Also protects red blood cells from potentially
harmful byproducts that can accumulate when a
person takes certain medications or when the
body is fighting an infections
❖ Without enough G6PD to protect the blood,
RBCs can be damaged or destroyed.
❖ Hemolytic anemia is a disorder in which the red
blood cells are destroyed faster than the bone
marrow can produce them.
RONIELIE CEREBO CERBAS BSN2J USA
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MCN REVIEWER FOR FINALS MODULE4C
NEWBORN SCREENING REPUBLIC ACT 9288
RONIELIE CEREBO CERBAS BSN2J USA
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