NEWBORN SREENING 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. 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. 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). Who will collect the sample for newborn screening? Newborn screening can be done by a physician, a nurse, a midwife or medical technologist. 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. 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. 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.[ 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.

What are the genetic diseases included in the NBS panel? Currently, there are five disorders being screened. These are: Disorder Screened Effect if NOT SCREENED Severe Mental Retardation Effect if SCREENED and treated Normal

CH (Congenital Hypothyroidism) CH results from lack or absences 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 with in two weeks, the baby with CH may suffer from growth and mental retardation. CAH (Congenital Adrenal Hyperplasia) 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. GAL (Galactosemia) 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 problems including liver damage, brain damage and cataracts. PKU (Phenylketonuria) PKU is a rare condition in which the baby cannot properly use one of the building blocks of proteins - the amino acid phenylalanine. Excessive accumulation of phenylalanine in the blood causes brain damage. G6PD Deficiency G6PD deficiency is a condition where the body lacks the enzyme called G6PD (Glucose-6-Phosphate Dehydrogenase). Babies with this deficiency may have hemolytic anemia resulting from exposure to oxidative substances found in drugs, food and chemicals.

Death

Alive and normal

Death or Cataracts

Alive and normal

Severe Mental Retardation

Normal

Severe Anemia, Kernicterus

Normal

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-chainalpha-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/