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BASIC INFORMATION ABOUT NEWBORN SCREENING
What is newborn screening?
Newborn screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation and even death if left untreated.
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 48th hour or at least 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours.
How is newborn screening done?
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 dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab).
Who will collect the sample for newborn screening
Newborn screening can be done by a physician, a nurse, a midwife or medical technologist.
How much is the fee for newborn screening?
P550. The DOH Advisory Committee on Newborn Screening has approved a maximum allowable fee of P50 for the collection of the sample.
Where is newborn screening available?
Newborn screening is available in participating health institutions (hospitals, lying-ins, Rural Health Units and Health Centers). If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening.
When are newborn screening results available?
Newborn screening results are available within seven to fourteen ( 7 - 14) working days after the newborn screening samples are received in the NBS laboratory.
A negative screen means that the result of the test indicates extremely low risk of having any of the disorders being screened.
A positive screen means that the baby is at increased risk of having one of the disorders being screened.
What should be done when a baby is tested a positive NBS result?
Babies 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.
Why screen your baby?
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Disorder Screened
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Effect if NOT SCREENED
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Effect if SCREENED and treated
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CH (Congenital Hypothyroidism)
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Severe Mental Retardation
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Normal
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CAH (Congenital Adrenal Hyperplasia)
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Death
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Alive and normal
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GAL (Galactosemia)
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Death or Cataracts
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Alive and normal
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PKU (Phenylketonuria)
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Severe Mental Retardation
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Normal
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G6PD Deficiency
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Severe Anemia, Kernicterus
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Normal
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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.)
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Congenital Hypothyroidism (CH)
CH results from the lack or absence of thyroid hormone which is essential for the physical and mental development of a child. If the disorder is not detected and hormone replacement is not initiated within two (2) weeks, the baby with CH may suffer from growth and mental retardation.
Congenital Adrenal Hyperplasia (CAH)
CAH is an endocrine disorder that causes severe salt loss, dehydration and abnormally high levels of male sex hormones in both boys and girls. if not detected and treated early, babies with CAH may die within 7-14 days
Galactosemia (GAL)
GAL is a condition in which the babies are unable to process galactose, the sugar present in milk. Accumulation of excessive galatose in the body can cause many problems, including liver damage, brain damage and cataracts.
Phenylketonuria (PKU)
PKU is a rare condition in which the baby cannot properly use one of the building blocks of protein called phenylalanine. Excessive accumulation of phenylalanine in the blood causes brain damage.
Glucose-6Phosphate Dehydrogenase Deficiency (G6PD def)
G6PD def is a condition where the body lacks the enzyme called G6PD. babies with this deficiency may have hemplytic anemia resulting from exposure to oxidative substances found in drugs, foods and chemicals.
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