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.

Source: FAQs About NBS

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.

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. Newborn Screening is now included in the Philhealth Newborn Care Package.

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)

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

 

NBS Panel of Disorders

Congenital Hypothyroidism (CH)

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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)

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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)

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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)

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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)

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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)

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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

CLICK HERE FOR NEWBORN SCREENING VIDEOS

 

Newborn Care Resources:

• Newborn Screening Act of 2004 (RA 9288)
• IRR of RA 9288
• Proclamation No. 540
• Clinical Pocket Guide on Essential Newborn Care