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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.

 

Why screen your baby?

Standard 6-Test

DISORDER

Effect if NOT SCREENED

Effect if SCREENED and TREATED

CH (Congenital Hypothyroidism)

  • Severe Growth and 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

MSUD (Maple Syrup Urine Disease)

  • Death or Mental Retardation

Alive and normal

Expanded Newborn Screening

DISORDER

Effect if NOT SCREENED

Effect if SCREENED and MANAGED

ORGANIC ACID DISORDERS

  • Developmental delay
  • Breathing problems
  • Neurologic damage
  • Seizures
  • Coma
  • Early death

Alive

Most will have normal development with episodes of metabolic crisis

FATTY ACID OXIDATION DISORDER

  • Developmental and physical delays
  • Neurologic impairment
  • Sudden death
  • Coma
  • Seizure
  • Enlargement of the heart & liver
  • Muscle weakness

Usually healthy in between episodes of metabolic crises

Alive

HEMOGLOBINOPATHIES

  • Painful crises
  • Anemia
  • Stroke
  • Multi-organ failure
  • Death

Alive

Reduces the frequency of painful crises

May reduce the need for blood transfusions

AMINO ACID DISORDERS

  • Mental retardation
  • Coma and death from metabolic crisis

Alive

Normal growth

Normal intelligence for some, learning problems to others

*List of disorders included in EXPANDED NEWBORN SCREENING

 

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Publications

March - April 2018

NBS at 20