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ΠNewborn screening, often referred to as the
DzPKU test,dz is a simple, inexpensive blood
test performed on babies in the first 48 hours
after birth to look for serious and often life-
threatening disorders. At least 4 million
babies in the United States are tested every
year, and severe disorders are detected in
about 3,000. Most state-required screening is
free or costs a nominal fee.
ΠNewborn screening tests for disorders that
can cause mental retardation, severe illness,
and premature death if not detected at birth.
For example, hypothyroidism is the most
common disorder identified by routine
screening, affecting 1 baby in 3,000.
Congenital hypothyroidism is a thyroid
hormone deficiency that retards growth and
brain development; but if it is detected in
time, the baby can be treated with oral doses
of thyroid hormone to permit normal
development.
Πrxpanded newborn screening (rNBS) is
available through private companies and
laboratories for an additional charge and uses
Tandem Mass Spectrometry (MS/MS) to test
for up to 40 rare disorders. rNBS is expensive
and most states donǯt have the highly-trained
experts required to run the very specialized
screenings and then effectively and
accurately interpret the results; therefore, it is
not available in all areas. In addition, there
are no cures or known treatments for many of
the disorders for which rNBS screens.
History of Newborn Screening

obert Guthrie is given much of the credit for

pioneering the earliest screening for
phenylketonuria in the late 1960s using blood
samples on filter paper obtained by  



 
  !"

on the second day of life to
get a few drops of blood. Congenital
hypothyroidism was the second disease widely
added in the 1970s.
History of Newborn Screening

The development of tandem mass spectrometry

screening by r
in Naylor and others in the
early 1990s led to a large expansion of
potentially detectable congenital metabolic
diseases that affect blood levels of organic acids.
Additional tests have been added to many
screening programs over the last t
o eca es.
Newborn screening has been adopted by most
countries around the world, though the lists of
screened diseases vary widely.
Œ àickle Cell Disease
ΠSickle cell disease is an inherited blood
disease in which red blood cells mutate into
abnormal "sickle" shapes and can cause
episodes of pain, damage to vital organs such
as the lungs and kidneys, and even death.
Young children with sickle cell disease are
especially prone to certain dangerous
bacterial infections, such as pneumonia
(inflammation of the lungs) and meningitis
(inflammation of the brain and spinal cord).
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The following tests are mandated in the R.A.
9288 or Newborn Screening program of
2004.Newborn screening is available in
practicing health institutions (hospitals, lying-
ins, ural Health Units and Health Centers)
with cooperation with DOH
Õ    

  

ΠMost 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.
Π0iotini ase Deficiency
ΠBabies with this condition don't have enough
biotinidase, an enzyme that recycles biotin (a
B vitamin) in the body. The deficiency may
cause seizures, poor muscle control, immune
system impairment, hearing loss, mental
retardation, coma, and even death. If the
deficiency is detected in time, however,
problems can be prevented by giving the
baby extra biotin. Incidence: 1 in 72,000 to
126,000.
Õ  
  
 

ΠNewborn screening is ideally done on the 48th

hour or at least 24 hours from birth.

ΠSome disorders are not detected if the test is

done earlier than 24 hours. The baby must be
screened again after 2 weeks for more accurate
results.
Π0iotini ase Deficiency
ΠBabies with this condition don't have enough
biotinidase, an enzyme that recycles biotin (a
B vitamin) in the body. The deficiency may
cause seizures, poor muscle control, immune
system impairment, hearing loss, mental
retardation, coma, and even death. If the
deficiency is detected in time, however,
problems can be prevented by giving the
baby extra biotin. Incidence: 1 in 72,000 to
126,000.

 
  
 

ΠNewborn 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 dried for 4 hours and sent to the
Newborn Screening Laboratory (NBS Lab).
Œ ‰yrosinemia
ΠBabies with this amino acid metabolism
disorder have trouble processing the amino
acid tyrosine. If it accumulates in the body, it
can cause mild retardation, language skill
difficulties, liver problems, and even death
from liver failure. Treatment requires a special
diet and sometimes a liver transplant. rarly
diagnosis and treatment seem to offset long-
term problems, although more information is
needed. Incidence: not yet determined. Some
babies have a mild self-limited form of
tyrosinemia.

    

  


× 0.
The DOH Advisory Committee on Newborn
Screening has approved a maximum
allowable fee of P50 for the collection of the
sample.
Õ  
  

   
ΠNewborn screening results are available within
seven working days to three weeks after
the NBS Lab receives and tests the
samples sent by the institutions esults
are released by NBS Lab to the institutions and
are released to your attending birth attendants
or physicians.
Õ  
  

   
ΠA NEGATIVE SCREEN mean that the result of
the test is NORMAL and the baby is not
suffering from any of the disorders being
screened.
Œ In case of a ×OSITIVE SCREEN, the NBS
nurse coordinator will immediately inform
the coordinator of the institution where the
sample was collected for recall of patients for
confirmatory testing.
Õ  
  

   
ΠIf a test result comes back abnormal, try not
to panic. This does not necessarily mean that
your child has the disorder in question.

ΠA screening test is not the same as

diagnostic test. The initial screening provides
only preliminary information that must be
followed up with more specific diagnostic
testing.
Õ  
  

   
ΠIf testing confirms that your child does have a
disorder, your child's doctor may refer you to
a specialist for further evaluation and
treatment.
Õ
    

  

ΠNewborn screening can be done by a:

1.physician,
2.nurse
3.midwife
4.medical technologist.
Õ   
  

  
ΠNewborn screening is available in
participating health institutions :
1.Hospitals
2.Lying-ins
3.ural Health Units and Health Centres.

If babies are delivered at home, babies may be

brought to the nearest institution offering
newborn screening.
Õ    
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- Congenital Hypothyroidism
(CH)
ΠCH results from lack or absence of thyroid
hormone, which is essential to growth of the
brain and the body.
ΠIf 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.
§ Congenital Adrenal Hyperplasia
(CAH)
ΠCAH is an endocrine disorder 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.
º
alactosemia (
AL)

-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.
a henylketonuria ()

ΠPKU is a metabolic disorder in which the body

cannot properly use one of the building
blocks of protein called phenylalanine.
rxcessive accumulation of phenylalanine in
the body causes brain damage.
O
lucose-6-hosphate
Dehydrogenase Deficiency (
6D)
ΠG6PD deficiency is a condition where the
body lacks the enzyme called G6PD. Babies
with this deficiency may have hemolytic
anemia resulting from exposure to certain
drugs, foods and chemicals.
Õ  
  
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ΠBabies with positive results should be
referred at once to the nearest hospital or
specialist for confirmatory testing and further
management. Should there be no specialist in
the area, the NBS secretariat office will assist
its attending physician