NEWBORN SCREENING

(NBS)
Carmencita R. Pacis PhD MAN RN
 LEARNING OBJECTIVES

At the end of this unit, the students are expected

to:
1. Understand what is Newborn Screening and its
importance.
2. Familiarize the most common Newborn
Screening Conditions to be tested.
3. Learn how Newborn screening is done.
4. Know the Philippine Laws governing Newborn
Screening.
• Procedure to determine if the
newborn infant has a
heritable congenital
metabolic disorder that may
lead to
– serious physical health
complications,
– mental retardation,
– and even death if left
undetected and untreated
• Newborn has access to
newborn screening
• Sustainable newborn
screening system
• All health practitioners are
aware of the advantages
• Parents recognize their
responsibility
Newborn Screening Act of 2004 (RA 9288)
•Protect the rights of children to survival and full and healthy
development as normal individuals
•Provide for a comprehensive, integrative and sustainable national
newborn screening system to ensure that every baby born in the
Philippines is offered the opportunity to undergo newborn
screening and be spared from heritable conditions
 NBS Screening Procedure

Blood sample collection Analysis for the presence of

(>24 hours of life in term the disorders screened (NIH
newborns) laboratory)

Positive Negative

Confirmatory Test No further

testing

Positive

Appropriate treatment and referrals

HERITABLE CONDITIONS:
 Standard 6 Test
1. Congenital Hypothyroidism
2. Congenital Adrenal Hyperplasia
3. Phenylketonuria
4. Glucose 6 Phosphate Dehydrogenase
Deficiency
5. Galactosemia
6. Maple Syrup Urine Disease
 Congenital
Hypothyroidism
• Endocrine disorder also
referred to as cretinism
• Results from the absence or
lack of development of thyroid
gland causing absence or lack
of thyroxine needed for
metabolism and growth of the
body and the brain.
• A deficiency in serum
concentration of free thyroid
hormone (T4)
• T4 – physical and mental
development
 Congenital Hypothyroidism
TREATMENT:
•Lifelong thyroid hormone
replacement therapy (as soon as
possible after diagnosis) as a single
morning dose
•DOC: Synthetic Levothyroxine
(Synthroid, Proloid and Levothroid)
•starting dose is 10 to 15 mcg/kg/day.
•The immediate goals of treatment are
to rapidly raise the serum T4 above
130 nmol/L (10 ug/dL) and normalize
serum TSH levels
•If treatment started early: normal
physical growth and intelligence
• An endocrine disorder caused by an inborn
defect in the biosynthesis of adrenal cortisol
that causes severe salt or sodium losses,
dehydration and abnormally high levels of
male sex hormones in both boys and girls.
Salt-wasting CAH
•is the more common and severe form.
•Very low amount of aldosterone.
•too much sodium and water are lost through urine -
the amount of potassium in the body increases -
causing dehydration (loss of fluids) - very low blood
pressure.
• Simple-virilizing CAH does not
cause the body to lose sodium
and water.
• it is less severe than salt-
wasting CAH.
• Simple virilizers produce too
many androgens.
• Virilisation of girls
• Treatment:
• Continued hormonal replacement
of HYDROCORTISONE
• Glucocorticoid replacement
therapy - Cortisol
• Mineralocorticoid therapy (Salt-
wasting form) - Aldosterone
 Nursing Considerations
• Patients receiving glucocorticoids can develop
ocular disorders, like cataracts and
glaucoma, as well as peptic ulcer disease.
• When glucocorticoids are given at high doses,
they can also act on mineralocorticoid
receptors, causing sodium and water
retention, which may result in hypertension
and edema.
 Phenylketonuria
• Inborn error of metabolism characterized by lack of
enzyme phenylalanine hydroxylase (needed to
breakdown phenylalanine → elevated serum
phenylalanine → brain damage and mental
retardation
 Diagnostic test:
• The Guthrie test, also
called the PKU test, is a
diagnostic tool to test
infants for
phenylketonuria a few
days after birth.
• Bacteria grows on blood
sample if excess
phenylalanine is present.
 Therapeutic Management
• Restriction of dietary protein
• Maintain safe range of
phenylalanine (2-8mg/dl)
• Brain damage: 11-15mg/dl
• Meet child optimum level for
growth
• Special milk substitute +
tyrosine
• + Breastmilk low protein
• Low phenylalanine diet
throughout life
• No high protein and dairy
 Galactosemia
GALACTOSEMIA results
from the absence of
hepatic enzyme -
Galactose-1-phosphate
uridyltransferase (GALT)
enzyme responsible for
converting galactose to
glucose
Signs and symptoms
Dietary treatment: galactose-free diet (galactose:
high in milk and milk products)
 GLUCOSE 6
PHOSPHATE
DEHYDROGENASE
(G6PD)
DEFICIENCY
• Deficiency in G6PD
• Red blood cells lack protection from
the harmful effects of oxidative
substances found in drugs, foods,
beverage
• Severe anemia and
hyperbilirubinemia → kernicterus
(jaundice of the brain) and mental
retardation, convulsion, coma and
even death
Without G6PD, RBC’s undergo
HEMOLYSIS when exposed to
oxidative stress!
OXIDATIVE
AGENTS
LEADING
TO
HEMOLYSIS
IN G6PD
Deficiency
 Standard 6- test
Disorder Effects if NOT Effects if SCREENED
Screened SCREENED and TREATED
CH Severe Growth and Normal
Mental Retardation
CAH Death Alive and normal

GAL Death or Cataracts Alive and normal

PKU Severe Mental Normal

Retardation
G6PD Severe Anemia, Normal
Deficiency Kernicterus

MSUD Death or Mental Alive and normal

retardation
 CLINICAL MANIFESTATIONS AT BIRTH
DISORDER APPEARANCE AT BIRTH

CAH Hyperpigmentation
Unusual external genitalia in
female infants
CH Normal

GAL Normal

PKU Normal

G6PD Deficiency Normal

MSUD 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
MSUD 1-3 days
Summary: Treatment
Disorder Treatment
CAH Supplementation Glucocorticoid,
mineralocorticoid,
NaCl
CH Supplementation Thyroid Hormone

GAL Avoidance Galactose, Lactose

PKU Avoidance Protein diet

G6PD Avoidance Oxidative drugs, food

and chemicals
Deficiency
MSUD Avoidance Protein diet
Supplementation Amino acids without
branched-chain AA/
Glucose for calories
Any questions???