NEWBORN SCREENING

Newborn Screening

Simple procedure aimed at early

identification of congenital metabolic
disorder that may lead to mental retardation
or even death if left untreated.
• An NSF is a health facility that educates
parents about NBS during prenatal,
collects blood sample for newborn
screening, sends sample to NSC, recalls
patients found positive in newborn
screening and assists in the management
of patients.
 Importance
• Most babies with metabolic disorders look
"normal" at birth. By doing NBS, metabolic
disorders may be detected even before
clinical signs and symptoms are present.
And as a result of this, treatment can be
instituted to reduce morbidity, mortality,
and associated disabilities in the affected
infants.
• When is newborn screening done?
• Newborn screening is ideally done on the
48th - 72nd hour of life. However, it may
also be done after 24 hours from birth.
• How newborn screening is done:
A few drops of blood are taken from the
baby's heel by a physician, nurse, medical
technologist or trained midwife and
blotted on a special absorbent filter card
and then sent to Newborn Screening
Center (NSC).
• Newborn screening is available in
Hospitals, Lying-ins, Rural Health Unit,
Health Centers and some private clinics.
• Babies delivered at home, may be
brought to the nearest institution offering
newborn screening.
• Positive NBS results are relayed to the parents
immediately by the health facility.
• Address and phone number is provided to the health
facility are correct.A NEGATIVE SCREEN MEANS THAT
THE NBS RESULT IS NORMAL.A positive screen
means that the newborn must be brought back to his/her
health practitioner for further testing.
• What should be done when a baby is
tested a positive NBS result? Babies
with positive results must be referred at
once to a specialist for confirmatory testing
and further management. Should there be
no specialist in the area, the NBS
secretariat office will assist its attending
physician.
• What are the disorders tested for newborn screening? The
disorders tested for newborn screening are:
• (1) Congenital Hypothyroidism (CH)
• (2) Congenital Adrenal Hyperplasia (CAH)
• (3) Galactosemia (GAL)
• (4) Phenylketonuria (PKU)
• (5) Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD Def.)
• (6) Maple Syrup Urine Disease (MSUD)
 Disorder Effect If NOT Effect if
SCREENED SCREENED
CH (Congenital Severe Mental Normal
Hypothyroidism) Retardation
CAH ( Congenital Death Alive and normal
Adrenal
Hyperplasia)
GAL Death or Cataracts Normal
( Galactosemia)
PKU Severe Mental Normal
Phenylketonuria) Retardation
G6PD Deficiency Severe Anemia, Normal
Kernicterus

Maple Syrup Urine Death Alive and Normal

Disease
 Disorder Effect If NOT Effect if
SCREENED SCREENED
CH (Congenital Severe Mental Normal
Hypothyroidism) Retardation
CAH ( Congenital Death Alive and normal
Adrenal
Hyperplasia)
GAL Death or Cataracts Normal
( Galactosemia)
PKU Severe Mental Normal
Phenylketonuria) Retardation
G6PD Deficiency Severe Anemia, Normal
Kernicterus

Maple Syrup Urine Death Alive and Normal

Disease
 Disorder Effect If NOT Effect if
SCREENED SCREENED
CH (Congenital Severe Mental Normal
Hypothyroidism) Retardation
CAH ( Congenital Death Alive and normal
Adrenal
Hyperplasia)
GAL Death or Cataracts Normal
( Galactosemia)
PKU Severe Mental Normal
Phenylketonuria) Retardation
G6PD Deficiency Severe Anemia, Normal
Kernicterus

Maple Syrup Urine Death Alive and Normal

Disease
 Disorder Effect If NOT Effect if
SCREENED SCREENED
CH (Congenital Severe Mental Normal
Hypothyroidism) Retardation
CAH ( Congenital Death Alive and normal
Adrenal
Hyperplasia)
GAL Death or Cataracts Normal
( Galactosemia)
PKU Severe Mental Normal
Phenylketonuria) Retardation
G6PD Deficiency Severe Anemia, Normal
Kernicterus

Maple Syrup Urine Death Alive and Normal

Disease
 Disorder Effect If NOT Effect if
SCREENED SCREENED
CH (Congenital Severe Mental Normal
Hypothyroidism) Retardation
CAH ( Congenital Death Alive and normal
Adrenal
Hyperplasia)
GAL Death or Cataracts Normal
( Galactosemia)
PKU Severe Mental Normal
Phenylketonuria) Retardation
G6PD Deficiency Severe Anemia, Normal
Kernicterus

Maple Syrup Urine Death Alive and Normal

Disease
 Disorder Effect If NOT Effect if
SCREENED SCREENED
CH (Congenital Severe Mental Normal
Hypothyroidism) Retardation
CAH ( Congenital Death Alive and normal
Adrenal
Hyperplasia)
GAL Death or Cataracts Normal
( Galactosemia)
PKU Severe Mental Normal
Phenylketonuria) Retardation
G6PD Deficiency Severe Anemia, Normal
Kernicterus

Maple Syrup Urine Death Alive and Normal

Disease