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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 or even death if left untreated. 

Why is it important to have newborn screening?
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 given early to prevent consequences of untreated conditions.

When is newborn screening done? 
Newborn screening is ideally done immediately after 24 hours from birth. 

How is newborn screening done? 
A few drops of blood are taken from the baby's heel, blotted on a special absorbent filter card and then sent to Newborn Screening Center (NSC).


Who will collect the sample for newborn screening 
The blood sample for NBS may be collected by any of the following: physician, nurse, medical technologist or trained midwife.

 

What is expanded newborn screening?

The expanded newborn screening program will increase the screening panel of disorders from six (6) to twenty-eight (28). This will provide opportunities to significantly improve the quality of life of affected newborns through facilitating early diagnosis and early treatment.

 

What is the difference between newborn screening and expanded newborn screening?

The difference is the number of disorders each of them can detect. Both tests are performed by collecting a few drops of blood through the heel-prick method but the laboratory testing methods applied are different.

 

What are the additional disorders tested by expanded newborn screening?

Aside from the six conditions in the present panel -- Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, Maple Syrup Urine Disease and Glucose-6-Phosphate Dehydrogenase deficiency --expanded newborn screening will screen for additional disorders falling under various groups of conditions namely: hemoglobinopathies, disorders of amino acid and organic acid metabolism, disorders of fatty acid oxidation, disorders of carbohydrate metabolism, disorders of biotin metabolism and cystic fibrosis.

 

How much is the fee for newborn screening?

Expanded newborn screening will be offered to you as an option in all newborn screening facilities. The first option is screening for the six disorders at ₱550, which is included in the newborn care package for Philhealth members and the second option is screening for the full complement of 28 disorders at ₱1500.

 

Is expanded screening covered by PhilHealth?

Currently, only P550 is covered by Philhealth. If you are a Philhealth member, and opt to have your baby undergo expanded newborn screening, you will pay the remaining cost which is P950.

 

Where is newborn screening available?

Newborn screening is available in Hospitals, Lying-ins, Rural Health Unit, Health Centers and some private clinics. If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening. 

When are newborn screening results available? 
Results can be claimed from the health facility where NBS was availed. Normal NBS Results are available by 7 - 14 working days from the time  samples are received at the NSC. 

Positive NBS results are relayed to the parents immediately by the health facility. Please ensure that the address and phone number you will provide 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)

 

What are the disorders tested for expanded newborn screening?

List of disorders included in the EXPANDED NEWBORN SCREENING


Why screen your baby?

Disorder Screened

Effect if NOT SCREENED

Effect if SCREENED and managed

CH (Congenital Hypothyroidism)

Severe Mental Retardation

Normal

CAH (Congenital Adrenal Hyperplasia)

Death

Alive and normal

GAL (Galactosemia)

Death or Cataracts

Alive and normal

PKU (Phenylketonuria)

Severe Mental Retardation

Normal

G6PD Deficiency

Severe Anemia, Kernicterus

Normal

Maple Syrup Urine Disease

Death

Alive and normal

 

CLICK HERE FOR TRANSLATIONS IN FILIPINO, CEBUANO, HILIGAYNON AND ILOCANO

 
NBS Panel of Disorders PDF Print E-mail

Congenital Hypothyroidism (CH)


CH results from 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 babies are 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.

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 deficiency is a condition where the body lacks the enzyme called G6PD.  Babies with this deficiency may have hemolytic anemia resulting from exposure to oxidative substances found in drugs, foods and chemicals.

 

Maple Syrup Urine Disease (MSUD)


MSUD is a genetic metabolic disorder resulting from the defective activity of the enzyme branched chain alpha-keto-acid dehydrogenase complex. Accumulation of the branched chain amino acids are toxic to the brain.

List of disorders included in the EXPANDED NEWBORN SCREENING

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January - February 2017

NBS at 20