Basic Information on 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 and even death if left untreated.

Why is it important to have newborn screening?

Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are already irreversible. [back to top]

When is newborn screening done?

Newborn screening is ideally done on the 48th hour or at least 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours. [back to top]

How is newborn screening done?

Newborn screening is a simple procedure. Using the heel prick method, a few drops of blood are taken from the baby's heel and blotted on a special absorbent filter card. The blood is dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab).[back to top]

Who will collect the sample for newborn screening?

Newborn screening can be done by a physician, a nurse, a midwife or medical technologist. [back to top]

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. [back to top]

Where is newborn screening available?

Newborn screening is available in participating health institutions (hospitals, lying-ins, Rural Health Units and Health Centers). If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening. Newborn Screening, specifically sample collection, is expected to be present in all hospitals and lying-in clinics following the order requiring these institution to offer NBS for licensing purposes. [back to top]

When are newborn screening results available?

Newborn screening results are available within seven to fourteen ( 7 - 14) working days after the newborn screening samples are received in the NBS laboratory.

A negative screen means that the result of the test indicates extremely low risk of having any of the disorders being screened.

A positive screen means that the baby is at increased risk of having one of the disorders being screened. [back to top]

What should be done when a baby is tested a positive NBS result?

Babies with positive results should be referred at once to the nearest hospital or specialist for confirmatory testing and further management. Should there be no specialist in the area, the NBS secretariat office will assist its attending physician. [back to top]

What are the genetic diseases included in the NBS panel?

Currently, there are five disorders being screened. These are:

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Maple Syrup Urine Disease, a candidate genetic disorder to be added to the NBS panel of disorders?

Maple Syrup Urine Disease (MSUD) is an autosomal recessive disorder caused by decreased activity of branched-chain-alpha-ketoacid dehydrogenase, one of the enzymes involed in the degradation of leucine, isoleucine and valine. If left untreated, the clinical course of classical MSUD is often progressively sever, including overwhelming neonatal illness and eventually death. MSUD cases where incidentally detected in phelyketonuria (PKU) screening and these confirmed MSUD cases were significantly higher in the Philippine NBS population than PKU. The National Newborn Screening Comprehensive System (NBNBSS) is exploring the inclusion of MSUD in the newborn screening panel of disorders. [back to top]

NEWBORN SCREENING REFERENCE CENTER

National Institutes of Health - UP Manila

625 Pedro Gil St., Ermita Manila, Philippines

http://www.newbornscreening.ph/

References:

Pink brochure. Newborn Screening Reference Center - National Institutes of Health, University of the Philippines Manila. (e-mail: nbsadmin@gmail.com)

Jomento C. 2010. Maple Syrup Urine Disease Kit Evaluation. Newborn Screening (Official Publication of the Newborn Screening Reference Center NIH-UP Manila). 14(1):8.

2009 Statistics on National Coverage and Performance and Incidence Rates of NBS Genetic Disorders. Newborn Screening (Official Publication of the Newborn Screening Reference Center NIH-UP Manila). 14(1):3.