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Basic information about Newborn Screening

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By doodsdpogi

The Newborn Screening

What is newborn screening?

The newborn screening (NBS) is a simple procedural test to determine at the very early stage if the baby has a congenital metabolic disorder.  The procedure is needed because if the congenital metabolic disorder is not treated this may lead to mental retardation and even can cause death to the baby.

What is the importance of the newborn screening?

The newborn screening is importance because most babies who have metabolic disorders look normal since they are born. Nobody knows that the baby has already this defect unless the signs and symptoms start to show up.  Because of the late diagnosis, more often the results of this disorder are irreversible.

When is the right time for newborn screening to be done?

The ideal and the right time for the newborn screening will be on the 24th hour up to 48th hour from the birth of the baby.   There are some disorders with the new born babies cannot be detected when the examination is done earlier than 24 hours from the time the baby was born. In order to acquire more accurate results, the baby must be screened again after 2 weeks.

The NBS for Congenital Metabolic Disorder

How is newborn screening procedure done?

A simple procedure is done for the newborn screening. The authorized medical practitioner will take a few drops of blood from the heel of the baby using the heel prick method.  The blood is then blotted on a special absorbent filter card. The blood will be sent to the Newborn Screening Laboratory (NBS Laboratory) after it is dried for 4 hours.

How much cost is involved for the newborn screening?

In the Philippines, the fee is Five Hundred Fifty Pesos (P550.00). The maximum allowable fee for the collection of the blood sample is Fifty Pesos (P50.00) as approved by the Department of Health Advisory Committee on Newborn Screening (DOH).


What is the time frame for the results of newborn screening?

The time frame for the availability of the newborn screening result is within seven (7) working days up to three (3) weeks after the NBS Lab receives and examining the samples that were sent by the institutions. The NBS Laboratory will only release the NBS results to the institution through the physician or the attending birth attendants. Since the samples where collected from the institutions, the parents will then get the results from them. The screened baby is normal and not suffering from any of the disorders if the result of the examination is negative. In case of a positive screen, the NBS nurse coordinator shall immediately inform the coordinator of the institution where the sample was collected for recall of patients for confirmatory testing.

Congenital Metabolic Disorder Screening for Newborn Babies

Who will collect the sample for newborn screening

Newborn screening can be done by a physician, a nurse, a midwife or medical technologist.

Where can the newborn screening availed by the parents?

The newborn screening can be availed from any of the participating health institutions such as hospitals, rural health units, health centers and lying-ins. The babies can be brought to any of the nearest institution offering newborn screening if the were delivered at home or any places where the NBS is not available.

The NBS

What are the kinds of disorders that are included and can be detected in the Newborn Screening Test Package?

1. Congenital Hypothyroidism (CH)

The CH results from lack or absence of thyroid hormone of the baby, which is essential to growth of the brain and the body. If 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.

2. Congenital Adrenal Hyperplasia (CAH)

The CAH is an endocrine disorder that causes severe salt lost, dehydration and abnormally high levels of male sex hormones in both boys and girls. If this kind of disorder will not be detected and treated at its early stage, the babies may die within seven (7) days up to – fourteen (14) days.

3. Galactosemia (GAL)

The GAL is a condition in which the body is unable to process galactose, the sugar present in milk. The galactose if excessively accumulated in the body can cause many problems, including liver damage, brain damage and cataracts.

4. Phenylketonuria (PKU)

The PKU is a metabolic disorder in which the body cannot properly use one of the building blocks of protein called phenylalanine. The phenylalanine if excessively accumulated in the body causes brain damage.

5. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Def)

The G6PD deficiency is a condition where the body lacks the enzyme called G6PD. The babies may have hemolytic anemia caused by this deficiency. This is the result over exposure to certain drugs, foods and chemicals when the baby is still unborn.


What are the things to be if a baby is tested a positive NBS result?

Confirmatory tests and further management should be administered to the babies with positive NBS results through the intervention of the specialist at the nearest hospital. The NBS secretariat office will assist the attending physician of the baby with positive results whenever there is not specialist in the area.


The Newborn Screening Table

Disorder Screened
Effects SCREENED
Effect if SCREENED and treated
CH (Congenital Hypothyroidism
Severe Mental Retardation
Normal
CAH (Congenital Adrenal Hyperplasia)
Death
Alive and Normal
GAL (Galactosemia)
Death of Cataracts
Alive and Normal
PKU (Phenylketonuria
Severe Mental Retardation
Normal
G6PD
Severe Anemia, Kernicterus
Normal

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