The document provides an overview of newborn screening in the Philippines. It discusses the objectives of newborn screening and the role it plays in identifying five metabolic disorders in newborns: congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, and G6PD deficiency. It describes the procedures for newborn screening, including the heel prick method used to collect a blood sample, as well as the potential complications that can arise if the disorders are not detected and treated promptly.
2. Objectives:
1. Overview of Newborn Screening
2. Provide knowledge and understanding about
Newborn Screening in the Philippines.
2. The role of NBS in identifying the 5
metabolic disorders of newborn
3. Describe the clinical manifestations and the
complications that may arise if the disorders
are not promptly detected and treated.
4. The role of nurses in the prevention and
management of metabolic disorders. ROSARIO ANNE R. BERNABE MAN 2
3. NEWBORN SCREENING
1996
REPUBLIC ACT 9288
A public health program
aimed at the early
identification of infants
who are affected by
certain
genetic/metabolic/
infectious conditions.
PHOTO OREGONMOD.COM
ROSARIO ANNE R. BERNABE MAN 3
4. 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.
• PHOTO OREGONMOD.COM
ROSARIO ANNE R. BERNABE MAN 4
5. SIGNIFICANCE:
NEWBORN SCREENING
Most babies with metabolic
disorders look normal at
birth.
onset of signs and symptoms
irreversible.
PHOTO CDC.GOV
ROSARIO ANNE R. BERNABE MAN 5
6. NEWBORN SCREENING
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 screened again after 2
weeks for more accurate results.
ROSARIO ANNE R. BERNABE MAN 6
7. Newborn screening is a simple procedure. Using 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 air dried for 4
hours and sent to the Newborn Screening
Laboratory (NBS Lab) in Manila.
ROSARIO ANNE R. BERNABE MAN 7
8. When are newborn screening
results available?
• Seven (7) working days from the time the
newborn screening samples are received.
• Laboratory result indicating an increased risk
or of a heritable disorder (i.e. positive screen)
shall be immediately released, within twenty-four
(24) hours followed by confirmatory
testing can be immediately done.
ROSARIO ANNE R. BERNABE MAN 8
10. Who may collect the sample for newborn
screening?
A Trained
• physician
• nurse
• midwife or
• medical technologist
ROSARIO ANNE R. BERNABE MAN 10
11. Disorder Screened Effects SCREENED
Effect if SCREENED
and treated
TREATMENT
CH (Congenital
Hypothyroidism
Severe Mental
Retardation
Normal HORMONES
CAH (Congenital
Adrenal Hyperplasia)
Death Alive and Normal HORMONES
GAL (Galactosemia) Death or Cataracts Alive and Normal DIET RESTRICTION
PKU (Phenylketonuria)
Severe Mental
Retardation
Normal DIET RESTRICTION
G6PD Deficiency
Severe Anemia,
Kernicterus
Normal
AVOIDANCE OF
TRIGGERING
FACTORS
The five (5) metabolic disorders
being identified by newborn screening
ROSARIO ANNE R. BERNABE MAN 11
13. What does congenital mean?
Congenital means existing at birth (inherited).
ROSARIO ANNE R. BERNABE MAN 13
14. THYROID
A butterfly-shaped
organ at the base of
the neck AND is part
of the endocrine
system, which is
made up of several
glands and tissues
that produce
hormones.
ROSARIO ANNE R. BERNABE MAN 14
15. WHAT ARE HORMONES?
Hormones are
chemicals that
send messages to
other organs or
tissues of the
body, telling them
to do specific
things.
ROSARIO ANNE R. BERNABE MAN 15
16. 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
ROSARIO ANNE R. BERNABE MAN 16
17. THYROID HORMONES
1. TRI-IODOTHYRONINE (T3)
2. THYROXINE (T4) - crucial for normal growth
and development of the body and brain
among newborns.
ROSARIO ANNE R. BERNABE MAN 17
18. THYROID HORMONES
Thyroid gland is regulated by
1. HYPOTHALAMUS (produces THYROTROPIN
RELEASING HORMONE TRH)
2. PITUITARY GLAND (produces TSH)
TRH stimulates the pituitary gland to produce
THYROID STIMULATING HORMONE TSH.
ROSARIO ANNE R. BERNABE MAN 18
19. NORMAL PATHOPHYSIOLOGY
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 down production of TSH
ROSARIO ANNE R. BERNABE MAN 19
21. Congenital Hypothyroidism
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
ROSARIO ANNE R. BERNABE MAN 21
22. MISSING, MISPLACED, TOO SMALL, OR NOT PRODUCING ENOUGH THYROID
HORMONES
Low thyroid hormone level in circulation
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
CONGENITAL HYPOTHYROIDISM
ROSARIO ANNE R. BERNABE MAN 22
23. CONGENITAL HYPOTHYROIDISM
Clinical Manifestations
1.Jaundice
2.Poor muscle tone
3.Low body temperature
4.Long protruding tongue
5.Large anterior fontanel
6.Umbilical hernia
PHOTO: WIKIPEDIA
ROSARIO ANNE R. BERNABE MAN 23
24. GOALS OF TREATMENT
1. Maintain the T4 level of the client above the
normal range.
2. Maintain the TSH level in normal range
(below 10 mIU/L)
3. Avoid overtreatment
- premature closure of cranial sutures and
fontanelles
4. Provide psychological support to the family
ROSARIO ANNE R. BERNABE MAN 24
25. MANAGEMENT
Thyroid Replacement before 2 weeks old
TREATMENT
L -THYROXINE tablet form for babies with CH
-crushed into food or dissolved into a small amount
of formula, juice or other liquid
NOTE: DO NOT GIVE
Soy-based formulas and iron supplements - reduce
the amount of absorption
ROSARIO ANNE R. BERNABE MAN 25
27. REVIEW
A newborn with congenital hypothyroidism (CH)
has little or absent ________ hormone and
excess _______ hormone in the body. In
majority of cases, CH is caused by defective
development of the ___________ gland,
Maternal intake of _____________ can also
cause elevated thyroid stimulating hormone in
the newborn. Hormone replacement with
_______ can abate mental retardation.
ROSARIO ANNE R. BERNABE MAN 27
28. REVIEW
A newborn with congenital hypothyroidism (CH)
has little or absent THYROID hormone and
excess THYROID STIMULATING hormone in
the body. In majority of cases, CH is caused by
defective development of the THYROID gland.
Maternal intake of ANTI-THYROID DRUGS can
also cause elevated thyroid stimulating
hormone in the newborn.
ROSARIO ANNE R. BERNABE MAN 28
30. CONGENITAL ADRENAL HYPERPLASIA
Congenital Adrenal
Hyperplasia (CAH)
A disorder present at
birth and characterized
by abnormalities in the
production of certain
hormones of the
adrenal glands.
ROSARIO ANNE R. BERNABE MAN 30
31. ADRENAL GLANDS
Suprarenal glands
Two small glands located
superior to each kidney.
Releases hormones
1. Epinephrine or Adrenalin
2. Cortisol
3. Aldosterone
ROSARIO ANNE R. BERNABE MAN 31
32. ADRENAL HORMONES
EPINEPHRINE / ADRENALIN
Secreted by adrenal medulla
- the fight or flight
hormone
-prepares the body for
vigorous physical
activity.
PHOTO: LIVESTRONG.CO,M
ROSARIO ANNE R. BERNABE MAN 32
33. ADRENAL HORMONES
ADRENAL CORTEX
1. CORTISOL /
HYDROCORTISONE
- the “stress hormone”
helps body cope w/
stressful situations
protective mechanism
of the body against
illness or injury
ROSARIO ANNE R. BERNABE MAN 33
34. 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”
ROSARIO ANNE R. BERNABE MAN 34
35. ADRENAL CORTEX HORMONES
2. ALDOSTERONE-The
salt retaining
hormone
ROSARIO ANNE R. BERNABE MAN 35
36. ALDOSTERONE (salt retaining hormone )
Blood pressure drops
Sensed by pituitary gland
Release ACTH
Stimulates adrenal glands
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
ROSARIO ANNE R. BERNABE MAN 36
37. ADRENAL CORTEX HORMONES
ANDROGEN
MALE HORMONE
Stimulate the
development
of male sexual
Characteristics.
PHOTOMINDANDMRUOSSCALREI.OC OAMNNE R. BERNABE MAN 37
38. CONGENITAL ADRENAL HYPERPLASIA
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.
ROSARIO ANNE R. BERNABE MAN 38
39. Low level of cortisol in the 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
ROSARIO ANNE R. BERNABE MAN 39
40. ADRENAL HORMONES
PITUITARY GLAND
• Responsible for giving commands to different glands of
the body
• releases hormone ACTH (Adrenocorticotrophic
hormone)
• Stimulate the production of adrenal hormones
ROSARIO ANNE R. BERNABE MAN 40
41. 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.
ROSARIO ANNE R. BERNABE MAN 41
42. Inherited defect in production of specific enzyme
21 HYDROXYLASE which is used by adrenal glands to produce
CORTISOL AND ALDOSTERONE
LOW LEVEL OF CORTISOL AND ALDOSTERONE
SENSED BY THE PITUITARY GLAND
ACTH
ADRENAL GLAND
WILL PUSH ADRENAL GLAND TO MAKE CORTISOL/ALDOSTERONE
PITUITARY CONTINUES TO SRELEASE ACTH
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 ROSARIO ANNE R. BERNABE MAN 42
43. CLINICAL MANIFESTATIONS
• 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
ROSARIO ANNE R. BERNABE MAN 43
44. 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
ROSARIO ANNE R. BERNABE MAN 44
45. CHILDREN WITH CAH
GIRLS
NOTHING IS SUSPECTED AT BIRTH
Abnormal sex organ ( large clitoris –
appearance of small penis
Closed labial folds)
Early appearance of pubic and axillary hair
Excessive hair on face, arms, legs, chest
Deep voice
Failure to menstruate
Severe acne
BOYS
NOTHING IS SUSPECTED AT BIRTH
ENLARGED PENIS
EARLY INCREASE IN HEIGHT
Early appearance of pubic and axillary hair
EARLY DEVT OF MASCULINE
CHARACTERISTICS
(deep voice, adam’s apple, muscular build)
SMALL TESTES UPON REACHING
ADOLESCENCE ( has a scrotum of a little
boy even when they are teenageers)
Severe acne
ROSARIO ANNE R. BERNABE MAN 45
50. MANAGEMENT
HORMONE REPLACEMENT
• HYDROCORTISONE a synthetic form of cortisol
in a pill form.
• must be taken throughout life to prevent CAH effects.
• CUSHING SYNDROME
For those with abnormal genitalia PEDIATRIC
SURGERY B4 3 yrs old to prevent psychological
and emotional problems
ROSARIO ANNE R. BERNABE MAN 50
51. ADRENAL GLANDS HORMONES
1.
2.
3.
CAH Inherited defect in production of specific
enzyme
_____________which is used by adrenal glands
to produce ___________AND___________
CAH LACKS HORMONES _________ AND
___________ AND EXCESSIVE _________
REVIEW
ROSARIO ANNE R. BERNABE MAN
51
53. Galactosemia (GAL)
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.
ROSARIO ANNE R. BERNABE MAN 53
54. Galactosemia (GAL)
An inherited disorder that lacks an enzyme
(galactose-1-phosphate uridyl
transferase/Gal-1-PUT) which helps the body
break down the galactose.
ROSARIO ANNE R. BERNABE MAN 54
55. MILK digestion
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
ROSARIO ANNE R. BERNABE MAN 55
56. MILK digestion
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
ROSARIO ANNE R. BERNABE MAN 56
57. MANAGEMENT
• 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
ROSARIO ANNE R. BERNABE MAN 57
58. REVIEW
IF LEFT UNTREATED, POSSIBLE OUTCOMES OF GALACTOSEMIA ARE THE
FOLLOWING EXCEPT:
A. DEATH
B. LIVER DAMAGE
C. DIARRHEA
D. BLINDNESS
TRUE/FALSE ... The enzyme GALACTOSE-1PHOSPHATE URIDYLTRANSFERASE
converts glucose into galactose.
TRUE/FALSE... GALACTOSEMIA is a rare genetic disorder that occurs when
an individual has very little or no GALT.
ROSARIO ANNE R. BERNABE MAN 58
60. 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.
ROSARIO ANNE R. BERNABE MAN 60
61. Phenylketonuria (PKU)
• Phenylalanine is neurotoxic
• Excessive accumulation of phenylalanine in
the body causes brain damage.
ROSARIO ANNE R. BERNABE MAN 61
62. • Protein
• smaller building blocks called amino acids.
• A number of different enzymes are needed to
process these amino acids for use by the
body. Because of missing or non-working
enzymes, people with amino acid disorders
cannot process certain amino acids.
• These amino acids, along with other toxic
substances, then build up in the body and
cause problems.
• Mousy odor
ROSARIO ANNE R. BERNABE MAN 62
65. The first effects are
usually seen around 6
months of age.
Untreated infants may
be late in learning to
sit, crawl and stand.
They may pay less
attention to things
around them. Without
treatment, a child with
PKU will become
mentally retarded.
ROSARIO ANNE R. BERNABE MAN 65
66. CLINICAL MANIFESTATIONS
• Severe intellectual impairment
• Microcephaly
• Eczema
• Seizures
• Hypopigmentation
• Hyperactivity
• Autistic behavior
ROSARIO ANNE R. BERNABE MAN 66
68. PHENYLKETONURIA
• Screening of newborns for PKU entails a
simple heel stick blood sampling test called
the Guthrie test.
ROSARIO ANNE R. BERNABE MAN 68
69. MANAGEMENT
• should start as soon as possible but no later
than 7 to 10 days.
• Protein diet restriction
ROSARIO ANNE R. BERNABE MAN 69
71. G6PD Def
is an inherited condition in which the body lacks
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.
ROSARIO ANNE R. BERNABE MAN 71
72. G6PD Def
• G6PD deficiency is an X-linked hereditary
disease, which means it is caused by a
defective gene and effects males almost
exclusively and is transmitted by the mother
only to son or daughter who will become
another carrier.
ROSARIO ANNE R. BERNABE MAN 72
73. 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.
ROSARIO ANNE R. BERNABE MAN 73
74. G6PD DEFICIENCY
• 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.
ROSARIO ANNE R. BERNABE MAN 74
75. 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)
ROSARIO ANNE R. BERNABE MAN 75
76. 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
ROSARIO ANNE R. BERNABE MAN 76
77. TRIGGERING FACTORS
• VITAMIN K
• Naphthalene (moth balls)
• FAVA beans
• Blueberries
ROSARIO ANNE R. BERNABE MAN 77
79. DEFICIENT G6PD in RBC’S
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
ROSARIO ANNE R. BERNABE MAN 79
80. 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
ROSARIO ANNE R. BERNABE MAN 80
81. PREVENTION/TREATMENT
• limit exposure to the triggers of its symptoms
• Folic acid
• Phototherapy
BLOOD TRANSFUSION
ROSARIO ANNE R. BERNABE MAN 81
82. REVIEW
_________ the vitamin that can trigger G6PD
_________ the kind of acid that is administered
to patients with hemolytic anemia brought
about by G6PD
_________ the color of urine of patients with
G6PD
ROSARIO ANNE R. BERNABE MAN 82
83. REVIEW
VITAMIN K the vitamin that can trigger G6PD
FOLIC ACID the kind of acid that is administered
to patients with hemolytic anemia brought
about by G6PD
TEA COLORED the color of urine of patients
with G6PD
ROSARIO ANNE R. BERNABE MAN 83
84. KEYPOINTS
• NBS detects silent metabolic conditions as
early as the first week of life.
• Screening can prevent death and mental
retardation.
• Screening provide for effective management
of metabolic disorder
• Screening spares families and communities
the burden and expense of caring for sick and
mentally handicapped individuals
ROSARIO ANNE R. BERNABE MAN 84
85. KEYPOINTS
• Screening contributes to the development of
healthy, productive citizens.
ROSARIO ANNE R. BERNABE MAN 85
86. CRITICAL THINKING EXERCISE
In the near future as you start your own family,
you realized that both you and your
husband/wife are carriers of any of the 5
metabolic disorders. What will you do if you
found out that you are already anticipating a
child?
ROSARIO ANNE R. BERNABE MAN 86
87. References
Padilla et al. Inherited Disorders of Metabolism
in the Newborn .Institute of Human
Genetics, University of the Philippines,
Manila
G6PD Deficiency Primer. Institute of Human
Genetics, National Institute of Health,
University of the Philippines, Manila
Phenylketonuria Brochure. Institute of Human
Genetics, National Institute of Health,
University of the Philippines, Manila
ROSARIO ANNE R. BERNABE MAN 87
88. References
Congenital adrenal Hyperplasia. Merck Manual.
Sec 19, Ch.269, Endocrine and Metabolic
disorders
Essentials of Anatomy and Physiology 6th Edition
http://www.doh.gov.org.
http://www.galactosemia.org
ROSARIO ANNE R. BERNABE MAN 88