Newborn Screening is done to detect disorders that, if diagnosed early, can be treated to prevent life threatening and developmentally devastating outcomes. Most of the disorders that are detected are initially chemical problems in the body that, at first, don't have physical manifestations. It is difficult to diagnose these conditions early just by physical exam, so physicians have to rely on the blood tests done with a newborn screen.
Newborn Screening Tests There are numerous tests that can be done in a newborn screen. In the Philippines, the DOH (Department of Health) includes the following tests in their panel:
Congenital Hypothyroidism (CH) - A lack of thyroid hormone that can cause mental and physical retardation if the hormone is not replenished.
Congenital Adrenal Hyperplasia (CAH) - The adrenals control salt balance and male hormones in the body. In CAH, too much hormone secretion from the adrenal glands can cause life threatening problems with salt balance in the body.
Galactosemia (GAL) - Galactose is a type of basic sugar. In fact, milk which has lactose sugars uses lactose enzymes to break it down into glucose and galactose. In galactosemia, galactose cannot be broken down further and leads to liver, kidney, brain, and eye damage. It is also life threatening if not treated.
Phenylketonuria (PKU) - You probably see this term on labels of sugar substitutes and other food products. PKU is a condition where the body cannot process an amino acid called phenylalanine. This can lead to brain damage.
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Def) - G6PD Deficiency is a condition where a person does not have enough of the enzyme G6PD. G6PD helps keep red blood cells healthy. When exposed to certain food or drugs, the red blood cells are damaged and can cause life threatening hemolytic anemia. It can also cause brain damage.
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Early Prevention The newborn screen is done so that these conditions are caught early and your baby can be treated before they develop any physical or mental damage. Treatment will either be avoidance of the food or chemical component that will trigger problems (such as avoiding milk in galactosemia) or replacement of the missing chemical or hormone (such as thyroid replacement in congenital hypothyroidism).
Test Procedure The tests are done on blood samples taken from your baby. Your baby's heel is pricked and a few drops of blood are placed on special collection paper. The test is done twice. The first test has to be done at least 24 hours after birth and the next one at least two weeks after birth. The test needs to be done twice to make sure that all the babies are diagnosed.
Remember that these are screening tests. If they are positive, your baby needs to be seen by a doctor to do the confirmatory testing as soon as possible.