What Is Newborn Screening?

October 31, 2012 at 4:00 pm Leave a comment

The DOH celebrates the National Newborn Screening on the first week of October (October 4-8).  Newborn Screening (NBS) is a public health program for the early identification of disorders that can lead to mental retardation and death.  It was first introduced in the Philippines in 1996 and was subsequently mandated by Republic Act No 9288 or the Newborn screening Law in 2004.  This law states that every newborn must be offered newborn screening.

The Newborn Screening Reference Center (NSRC) was created by the National Institutes of Health of the University of the Philippines as commissioned by the NBS Law of 2004.  It is responsible for organizing and implementing newborn screening in the country.  The brochure above, is one of the NSRC’s means of disseminating information about NBS.  This is usually distributed in hospitals, health centers, and clinics of OB-Gyn and Pediatricans.  Here are some of the frequently asked questions and their answers provided by the NSRC, that every parent or guardian must know about.

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 on the 48th – 72nd hour of life. However, it may also be done 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 clincs. 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 Disorder (MSUD)*

Why screen your baby?

 

NBS Panel of Disorders         

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.

*Currently being phased into the program

 

This photo is an example of how NBS has helped in the prevention of mental retardation as a consequence of an inborn disorder.  The boy in the stroller was 14 years old and the girl beside him was 8 years old when this was taken.  Both of them were diagnosed with Congenital Hypothyroidism at birth.  The girl however, had NBS at 2 days old, was diagnosed and subsequently treated with maintenance medication.  The boy, on the other hand, was only brought to the hospital at 12 years old.  He could not walk, talk nor sit alone, and his mental age was placed at 1 month old.

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