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Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that

are treatable, but difficult or impossible to detect clinically. Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction. Newborn screening originated when Robert Guthrie developed a method to screen for phenylketonuria, a disorder which could be managed by dietary adjustment if diagnosed early. Whole blood samples are collected from the infant's heel on specially designed filter paper, and then tested for a panel of disorders. The disorders tested can vary from region to region, based on funding and the prevalence of a condition in the population.

What is my baby being screened for? Currently, NBS tests for five disorders: Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency A condition where the body lacks the enzyme called G6PD. The deficiency may cause hemolytic anemia, when the body is exposed to oxidative substances found in certain drugs, foods and chemicals. Parents of G6PD-positive babies receive a list of these substances from their doctor. While this is the mildest disorder that is covered in NBS, it is the most common: One out of 55 babies may be affected. Read more in our article on G6PD deficiency. Congenital Hypothyroidism This is a lack of thyroid hormone, which your baby needs to grow. Treatment is required within the first four weeks of a baby's life to prevent stunted physical growth and mental retardation. One out of 3,369 babies is at risk. Congenital Adrenal Hyperplasia An endocrine disorder that causes severe salt loss, dehydration and abnormally high levels of male sex hormones. Left undetected and untreated, it can be fatal within seven to 14 days. One in 7,960 babies is at risk. Galactosemia A condition in which babies cannot process the sugar present in milk (galactose). This leads to increased galactose levels in the body, which leads to liver and brain damage. It also causes cataracts to develop. One in 82,250 babies may be affected. Phenylketonuria A condition where the body does not properly use the enzyme phenylalanine, which may lead to brain damage. One in 109,666 babies may be at risk. Is it really necessary to screen my baby? It is crucial that these disorders are detected as early as possible. An affected baby looks healthy at birth because symptoms do not begin to show until weeks or months later. Once the signs and symptoms set in, the ill effects are often already permanent. If these conditions are left untreated, they may cause health complications or inhibit mental development. In the most serious cases, they can cause death. The Philippine Newborn Screening Project says that 33,000 children out of the two million Filipino babies born yearly are at risk from these disorders. Fortunately, children diagnosed with any of these disorders can continue to live normal and healthy lives as long as they are treated in time and they consistently follow up with a specialist. How is Newborn Screening administered? Your baby will be pricked at the heel. Three drops of blood will be taken for testing. A negative screen means that results are normal. A positive screen will require the baby to undergo further testing by a pediatrician. Parents are oriented about their childs condition through the National Institutes of Health (at the Philippine General Hospital). Parents will be notified through mail and through their attending doctors about positive results, and will be required to undergo the orientation and further testing at the NIH.

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