Newborn

Screening in the
Philippines (NBS)




Gelmark S. Olivares, RN
Nurse Trainee
Premiere Medical Center
What is Newborn Screening?
Newborn Screening (NBS) is a simple
procedure to find out if the baby
has a congenital metabolic disorder
that may lead to mental retardation
and even death if left untreated.
What is Newborn Screening?
In most developed countries:
An integral part of routine newborn
care
As routine as Vitamin K injection or Cord
Care
In the Philippines:
It is now recognized as part of the
standard newborn care
Why is it important to have
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.
When is Newborn Screening
done?
Newborn screening is ideally done
on the 48
th
hour or at least 24 hours
from birth.
How is Newborn Screening
Performed?

It involves collection of a few drops of
blood by heel prick after the first 48 hours
of life
How is Newborn Screening
Performed?
Blood sample collection
(>24 hours of life in term
newborns)
Analysis for the presence of
the disorders screened (NIH
laboratory)
Negative Positive
Confirmatory Test
Positive
Appropriate treatment and referrals
No further
testing
Which disorders are screened?
In the Philippines:
Congenital Adrenal Hyperplasia (CAH)
21 hydroxylase deficiency
Congenital Hypothyroidism (CH)
Primary Congenital Hypothyroidism
Galactosemia
Phenylketonuria (PKU)
Glucose 6-Phosphate Dehydrogenase
(G6PD) deficiency

CLINICAL MANIFESTATIONS AT BIRTH
DI SORDER APPEARANCE AT BI RTH
CAH

Hyperpigmentation
Ambiguous Genitalia in female
infants

CH Normal
GAL Normal
PKU Normal
G6PD Deficiency Normal
When do typical signs and
symptoms appear?
DISORDER GOLDEN PERIOD
CAH 7-14 days
CH 4 weeks
Gal 2 weeks
PKU 3 weeks
G6PD deficiency On exposure to specific agents
causing hemolysis
What happens to unscreened and
untreated babies?
Disorder
Screened
UNSCREENED, UNTREATED
CAH Death
CH Severe Growth and Mental
Retardation
GAL Death or Cataracts
PKU Severe Mental Retardation
G6PD Deficiency Severe Anemia, Jaundice,
Kernicterus

What is CONGENITAL
ADRENAL
HYPERPLASIA?
CAH, Salt Losing
Clinical Manifestations
Increased pigmentation
Ambiguous genitalia in
female infants
Poor suck, weak cry
Vomiting, excessive
urination, dehydration
Irritability and seizures
Failure to thrive
Hypotension, shock
Coma

Congenital Adrenal Hyperplasia
Late Manifestations
Precocious puberty
Skin Puberty:
pubic hair growth,
oily skin, body
odor"
Dark skin color
Short adult stature

What is CONGENITAL
HYPOTHYROIDISM?
Congenital Hypothyroidism
Clinical Manifestations
Prolonged jaundice
Inactive defecation
Umbilical Hernia
Hypotonia
Skin: rough and dry
Pallor, coldness,
hypothermia, edema
Rough facial features
Edema, flat nasal bridge,
enlarged tongue
Open fontanelles
Delayed overall development
Congenital Hypothyroidism
Late Manifestations
Mental retardation
Growth retardation
Delayed skeletal
maturation
Delayed dental
development and tooth
eruption
Delayed puberty
What is GALACTOSEMIA?
Galactosemia
Galactose
Component of dietary sugars
Converted to GLUCOSE for energy storage
(glycogen) and energy production

Galactosemia results from a deficiency of Galactose-1-
phosphate uridyltransferase (GALT)
Enzyme responsible for converting galactose to
glucose
Galactosemia
Clinical Manifestations develop
a few days to two weeks AFTER
INITIATION OF MILK
FEEDINGS
Poor suck
Vomiting, occasionally
diarrhea
Jaundice
Lethargy, weakness, coma
Septicemia (E. coli)
Later: excess galactose deposits
in tissues
Liver
Hepatomegaly
Edema
Ascites
Cirrhosis of the liver
Lens
Cataracts
Brain
Mental retardation
Kidney
Growth failure
Galactosemia
(Baby L)
at 4 months at 1 year old
What is
PHENYLKETONURIA?
Phenylketonuria
Phenylalanine
Essential amino acid found in most protein
diets
Tyrosine
Produced from phenylalanine
Component of substances that regulate body
functions (hormones/ pigment)
Inefficient production of tyrosine from
phenylalanine
Complete absence or profound deficiency of
phenylalanine hydroxylase (PAH) enzyme
activity
Phenylketonuria
Very high elevations of blood Phenylalanine
Excessive amounts of waste products of
phenylalanine (phenylketones) in the urine
Gives the urine a characteristic mousy
odor
Low serum levels of tyrosine
Disturbance in hormone and pigment
production
Phenylketonuria
Clinical Manifestations
Vomiting
Hyperactivity
Seizures and
hypertonia
Musty or mousy urine
odor
Light hair and skin
color
Seborrheic or
eczematoid rash
Mental retardation
Persistent Benign Hyperphenylalanemia
(Baby MD)
at 5 months at 1 year and 10 mos.
G6PD Deficiency
Function of G6PD
Certain food and drug have oxidant properties
that causes cell damage
In the red blood cells (RBC), the only
mechanism to neutralize oxidative substances is
through the G6PD activity

Without G6PD, RBCs undergo
HEMOLYSIS when exposed to oxidative
stress!
OXIDATIVE AGENTS LEADING TO
HEMOLYSIS IN G6PD Deficiency
Drugs
Chemicals
Food
Infection
CLINICAL MANIFESTIONS OF
G6PD Deficiency

Acute Hemolytic crisis
Anemia
Decreased oxygen delivery
Enlarged spleen
Increased bilirubin
Jaundice, tea colored urine
Accumulation in tissues
Brain
Kernicterus
Gall bladder
Gallstones
Enactment of the
Newborn Screening Act of
2004
(April 6, 2004)
Signing of the
Implementing Rules and
Regulation of RA 9288
(October 5, 2004)
Highlights of RA 9288
Institutionalize the National Newborn
Screening System
Section 2
Ensure that every baby born in the
Philippines is offered the opportunity
to undergo NBS
Defining DOH as the lead agency for the
implementation of NBS
Section 10

Highlights of RA 9288
Establishment and
accreditation of the
Newborn Screening
Centers (NSC)
Section 12
Establishment of the
Newborn Screening
Reference Center
(NSRC)
Section 13
Highlights of RA 9288
Obligation to inform
Section 5
Who will inform?
Any health practitioner who delivers,
or assists in the delivery of a newborn
What information?
Availability, nature and benefits of NBS
Performance of Newborn Screening
Section 6
After 24 hours of life but not later than 3 days
Sick neonates in ICU must be tested by the 7
th
day of
life
Regardless of weight and age of gestation
1 bottle of coke
every week for
1 year
GIVING UP 1.5 sticks
every day for
1 year
2 bottles
every month
for 9 months
2 cell cards in 9
months
Missing 55 days
of
daily lotto bet
What is the cost of newborn
screening?
Newborn
Screening Fee
P600
CONDITION IF SCREENED AND
TREATED
IF NOT
SCREENED
CH P10 a day
(thyroid hormone)
P 195 a day
CAH P 1.34 134 a day
(steroids)
P 1073 a day
GAL P 35
(soy formula)
P 410 a day
PKU P 44
(low protein formula)
P 6,492 a day
G6PD Deficiency None P 84 a day
*UP-PGH Service Ward 2002
Cost of Care : 1st year of life
SAVING 34,000 BABIES A YEAR
FROM
MENTAL RETARDATION AND
DEATH.


Thank you
for
listening!