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Importance of Newborn Screening

All babies are screened, even if they look healthy, because some medical conditions cannot be seen by just looking at the baby. Finding these conditions soon after birth can help prevent some serious problems, such as brain damage, organ damage, and even death.

For example, a test for phenylketonuria (PKU) checks if the baby’s body can process phenylalanine. Phenylalanine is found in most foods and can build up in the blood and tissues of a baby with PKU, resulting in brain damage. This can be prevented if a baby with PKU is put on a special diet early. Babies are also tested for hypothyroidism, which means that their bodies do not make enough thyroid hormone. Babies with hypothyroidism can take medication with the hormone to avoid the slowed growth and brain damage that can happen if their hypothyroidism is not treated.

Even though some conditions cannot be treated as easily as PKU and hypothyroidism, it is still helpful to know about the condition as soon as possible. For example, a baby with sickle cell disease is at risk for harmful infections. These babies can take a daily dose of penicillin, an antibiotic medicine, to help prevent infections. Although the penicillin will not change the fact that the baby has sickle cell disease, it can help prevent serious problems.