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NEWBORN SCREENING
• Newborn screening (NBS) is a simple procedure
to find out if a baby has a congenital metabolic
disorder that may lead to mental retardation
and even death if left untreated.
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What is the mandate for performing
Newborn Screening on every baby?
– RA 9288 known as the
“Newborn Screening Act of 2004”
with its Implementing Rules and Regulations.
5. IMPORTANCE rosario anne r bernabe
NEWBORN SCREENING
• Most babies with metabolic
disorders look normal at birth.
One will never know that the
baby has the disorder until the
onset of signs and symptoms
and more often ill effects are
already irreversible.
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NEWBORN SCREENING
When is newborn screening done?
• Ideally done on the 48th to 72nd hour of life
(first 2 to 3 days of life).
• – May also be done 24 hours from birth since
some disorders are not detected if the test is
done earlier than 24 hours from birth
7. • Newborn screening is a simple procedure. Using
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the heel prick method, a few drops of blood are
taken from the baby's heel and blotted on a
special absorbent filter card. The blood is dried
for 4 hours and sent to the Newborn Screening
Laboratory (NBS Lab).
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• P550. The DOH Advisory Committee on
Newborn Screening has approved a maximum
allowable fee of P50 for the collection of the
sample.
9. Who may collect the sample for newborn
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screening?
A Trained
• physician
• nurse
• midwife or
• medical technologist
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• Newborn screening is available in participating
health institutions (hospitals, lying-ins, Rural
Health Units and Health Centers). If babies are
delivered at home, babies may be brought to the
nearest institution offering newborn screening.
11. When are newborn screening rosario anne r bernabe
results available?
• Seven (7) working days from the time the newborn screening
samples are received parents should claim the results from their
physician, nurse, midwife or health worker.
• Any laboratory result indicating an increased risk of a heritable
disorder (i.e. positive screen) shall be immediately released, within
twenty-four (24) hours, so that confirmatory testing can be
immediately done.
• A positive screen means that the newborn must be referred at once
to a specialist for confirmatory testing and further management.
12. Effect if
Disorder Effects
SCREENED and TREATMENT
Screened SCREENED
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CH (Congenital Severe Mental
Normal HORMONES
Hypothyroidism Retardation
CAH (Congenital
Adrenal Death Alive and Normal HORMONES
Hyperplasia)
DIET
GAL (Galactosemia) Death or Cataracts Alive and Normal
RESTRICTION
PKU Severe Mental DIET
Normal
(Phenylketonuria) Retardation RESTRICTION
Severe Anemia,
G6PD Deficiency Normal
Kernicterus
What are the five (5) disorders
currently included in the newborn
screening package?
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THYROID
The thyroid is part of
the endocrine
system, which is
made up of several
glands and tissues
that produce
hormones.
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THYROID HORMONE FUNCTIONS
1. Responsible for the normal function of
certain body organs and is essential for
normal brain development
2. Controls the development of muscles and
bones as well as growth of teeth
3. Main regulator of body temperature
4. Helps maintain heart rate
5. Helps in normalcy of bowel movements
18. THYROID HORMONES rosario anne r bernabe
1. TRI-IODOTHYRONINE (T3)
2. THYROXINE (T4)
Thyroid gland is regulated by
1. PITUITARY GLAND (produces TSH)
2. HYPOTHALAMUS (produces THYROTROPIN
RELEASING HORMONE TRH)
TRH stimulates the pituitary gland to produce
THYROID STIMULATING HORMONE TSH
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Low thyroid hormone level in circulation
Hypothalamus releases TRH
Pituitary gland releases TSH
Stimulates thyroid gland to release thyroid hormones (T3
& T4) into bloodstream
PT gland detects adequate hormone levels in body
Slows production of TSH
20. Low thyroid hormone level in circulation
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Hypothalamus releases TRH
Pituitary gland releases TSH
Stimulates thyroid gland to release thyroid hormones (T3
& T4) into bloodstream
Deficient or absent THYROID HORMONES
Release more TSH
HIGH TSH LOW/ABSENT T3 &T4
PATHOPHYSIO CH
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Congenital Hypothyroidism (CH)
• CH results from a deficiency
(HYPOPLASIA) or absence of thyroid
hormone (APLASIA) , which is
essential to growth of the brain and the
body.
• If the disorder is not detected and
hormone replacement is not initiated
within (4) weeks, the baby's physical
growth will be stunted and she/he may
suffer from mental retardation.
22. Congenital Hypothyroidism
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CAUSED BY:
1. defective development of thyroid gland
2. development of thyroid gland in an
abnormal location
3. maternal intake of anti-thyroid medication
or excess iodine
4. an inherent defect in manufacturing the
thyroid hormone
23. NEWBORN SCREENING
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DETECTION
THYROID HORMONE REPLACEMENT before 2
weeks old
TREATMENT
26. CORTISOL FUNCTIONS
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PITUITARY GLAND
• Responsible for giving commands to different glands of the body
• releases hormone ACTH (Adrenocorticotrophic hormone)
ADRENAL GLANDS
1. CORTISOL is also known as HYDROCORTISONE -
the “stress hormone”
helps body cope w/ stressful situations
protective mechanism of the body against illness or injury
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1. CORTISOL
• Helps control blood pressure,
blood sugar and heart function. The body uses
more cortisol during times of stress, injury and
infection. Not having enough cortisol can be life
threatening because
it can lead to shock (dangerously low blood
pressure),
• which is also known as an “adrenal crisis”
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2. ALDOSTERONE
• salt-saving hormone OR salt retaining hormone
• Helps balance water, sodium and potassium in
the body.
• Without enough aldosterone, the body can’t hold
on to sodium and water.
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ANDROGEN
MALE HORMONE
• A male fetus needs androgens for normal genital
development.
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What does hyperplasia mean?
• Hyperplasia means an abnormal increase in the
number of cells that make up an organ or tissue.
This causes the organ or tissue to enlarge.
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Congenital adrenal hyperplasia
• is an inherited disorder that
affects the production of certain hormones and
causes the adrenal glands to become too big
(hyperplastic).
32. Low level of cortisol in theanne r bernabe
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body
Sensed by PITUITARY GLAND
Releases ACTH
Stimulates ADRENAL GLAND to produce more cortisol
__________________________________________
high level of cortisol in the body
Sensed by PITUITARY GLAND
Reduces amount of ACTH it releases
Decreased stimulationADRENAL GLAND
Decreased production of cortisol
33. Inherited defect in production of specific enzyme
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21 HYDROXYLASE which is used by adrenal glands to produce
CORTISOL AND ALDOSTERONE
SENSED BY THE PITUITARY GLAND
ACTH
ADRENAL GLAND CORTISOL
PITUITARY GLAND SECRETE HORMONES THAT WILL PUSH ADRENAL GLAND TO
MAKE CORTISOL/ALDOSTERONE
ACTH mobilizes the adrenal to work even harder and shifts to producing
EXCESSIVE AMOUNTS OF ANDROGENS INSTEAD
Too much androgen
Girl babies develop masculine characteristics
Boy babies develop masculine characteristics too rapidly
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Congenital Adrenal Hyperplasia
(CAH)
• an endocrine disorder caused by abnormalities
in specific enzyme of the adrenal gland that
causes severe 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.
35. GIRLS BOYS anne r bernabe
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NOTHING IS SUSPECTED AT BIRTH
NOTHING IS SUSPECTED AT BIRTH
ENLARGED PENIS
Abnormal sex organ ( large clitoris –
appearance of small penis EARLY INCREASE IN HEIGHT
Closed labial folds)
Early appearance of pubic and axillary
Early appearance of pubic and axillary hair
hair
EARLY DEVT OF MASCULINE
Excessive hair on face, arms, legs, chest CHARACTERISTICS
(deep voice, adam’s apple, muscular
build)
Deep voice
SMALL TESTES UPON REACHING
Failure to menstruate ADOLESCENCE ( has a scrotum of a
little boy even when they are
teenageers)
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CAH
• A lifelong disorder
• Incurable but treatable
TREATMENT
• HORMONE REPLACEMENT
For those with abnormal genitalia PEDIATRIC SURGERY
B4 3 yrs old to prevent psychological and emotional
problems
38. Galactosemia (GAL) rosario anne r bernabe
GAL is a condition
in which the body is
unable to process
galactose, the sugar
present in milk.
Accumulation of
excessive galactose
in the body can
cause many
problems, including
liver damage, brain
damage and
cataracts.
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Galactosemia (GAL)
inherited disorder that lacks an enzyme
(galactose- -phosphate uridyl transferase/Gal-1-
PUT) which helps the body break down the
galactose
40. MILK digestion anne r bernabe
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Lactose broken down into glucose and galactose
________________________
Glucose can be readily galactose needs to be
used by the body as an converted into glucose
energy source
GALACTOSE-1-PHOSPHATE
URIDYLTRANSFERASE/ GALT
Glucose
energy source by the body
41. MILK digestion rosario anne r bernabe
Lactose broken down into glucose and galactose
______________________________________________
Glucose can be readily galactose needs to be
used by the body as an converted into glucose
energy source
Defective genes inherited
from parents / defective
GALT
build up of galactose
Hypoglycemic failure to grow poor weight gain VOMITING, JAUNDICE,
DIARRHEA LIVER ENLARGEMENT
__________________________________________________
CATARACT LIVER DISEASE KIDNEY PROBLEMS
BRAIN DAMAGE DEATH
42. GALACTOSEMIA
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• Galactosemia is an inherited disorder that affects the way the
body breaks down the sugar called galactose is broken down.
• A larger sugar called lactose, sometimes called milk sugar, is
broken down by the body into galactose and glucose
• The body uses glucose for energy. Because of the lack of the
enzyme (galactose- -phosphate uridyl transferase) which
helps the body break down the galactose, it then builds up and
becomes toxic.
• In reaction to this build up of galactose the body makes some
abnormal chemicals. The build up of galactose and the other
chemicals can cause serious health problems like a swollen and
inflamed liver, kidney failure, stunted physical and mental growth,
and cataracts in the eyes.
• If the condition is not treated there is a % chance that the child
could die.
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TREATMENT
• Avoid MILK and MILK PRODUCTS
substituted with LACTOSE FREE or
GALACTOSE FREE MILK such as SOY-BASED
MILK FORMULA.
• galactose-restricted diet must be followed for life
and requires close supervision and monitoring
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Phenylketonuria (PKU)
• PKU is an autosomal recessive metabolic
disorder in which the body cannot properly
use one of the building blocks of protein
called phenylalanine, an essential amino
acid that converts into tyrosine causing
elevation of phenylalanine in the blood.
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Phenylketonuria (PKU)
• Phenylalanine is neurotoxic
• Excessive accumulation of phenylalanine in the
body causes brain damage.
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Symptoms
• Severe intellectual impairment
• Microcephaly
• Eczema
• Seizures
• Hypopigmentation
• Hyperactivity
• Autistic behavior
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• Screening of newborns for PKU entails a simple
heel stick blood sampling test called the Guthrie
test..
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TREATMENT
• should start as soon as possible but no later than
7 to 10 days.
• Protein diet restriction
51. G6PD Def
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is an inherited condition in which the body doesn't
have enough of the enzyme glucose-6-
phosphate dehydrogenase, or G6PD,
which helps red blood cells (RBCs) function
normally.
This deficiency can cause hemolytic anemia,
usually after exposure to certain medications,
foods, or even infections.
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G6PD Def
• G6PD deficiency is an X-linked recessive
hereditary disease, which means it is
caused by a defective gene and effects
males almost exclusively.
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G6PD
• is one of many enzymes that help 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 infection.
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• 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.
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TRIGGERING FACTORS
Kids with G6PD deficiency typically do not show
any symptoms of the disorder until their red
blood cells are exposed to certain triggers,
which can be:
• illness, such as bacterial and viral infections
• certain painkillers and fever-reducing drugs like
aspirin
• certain antibiotics (especially those that have
"sulf" in their names like sulfamethoxazole -
bactrim)
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TRIGGERING FACTORS
• certain antimalarial drugs (especially those that
have "quine" in their names like chloroquine)
• SOYA foods - taho, tokwa, soy sauce
• Red wine
• Legumes - munggo, garbanzos, abitsuelas
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TRIGGERING FACTORS
• VITAMIN K
• Naphthalene (moth balls)
• FAVA beans
• Blueberries
58. DEFICIENT G6PD in RBC’S
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TRIGERRING FACTORS
. RBC DESTROYED .
HEMOLYTIC ANEMIA DESTROYED RBC BROKEN
DOWN BY LIVER
SYMPTOMS
• pallor BILIRUBIN IS PRODUCED
• Dizziness AS END PRODUCT
• Headache
• Difficulty breathing EXCESS BILIRUBIN ACCUMULATES
• Palpitations 1. In the skin (jaundice)
• Tea colored urine 2. Brain (mental retardation
• Etc or death
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SIGNS AND SYMPTOMS
ANEMIA LIKE SYMPTOMS
• paleness (in darker-skinned children paleness is
sometimes best seen in the mouth, especially on
the lips or tongue)
• extreme tiredness
• rapid heartbeat
• rapid breathing or shortness of breath
• jaundice, or yellowing of the skin and eyes,
particularly in newborns
• an enlarged spleen
• dark, tea-colored urine
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TREATMENT
• limit exposure to the triggers of its symptoms
• Folic acid
• Phototherapy
• ABSOLUTE CURE IS GENE REPLACEMENT
THERAPY but this is not yet available at the
present time
61. THE END
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LONG QUIZ NEXT MEETING!!!
SEE YAH
