Comprehensive Newborn Screening: Tests That Can Save Your Baby’s Life

newborn testOutside of the womb, life changes a lot for a baby during her first twenty-four hours. From a silent, dark place, she emerges to hear sounds, see sights, and be held in tender arms. During the first 24 to 48 hour, she will receive a comprehensive newborn screening, or the PKU or heel-stick test. This screening test looks for serious disorders, such as cystic fibrosis and sickle cell anemia, which can affect your baby’s health and quality of life. Some parents feel the testing should be delayed because they don’t want their baby exposed to a needle at such an early age. However, the tests are concentrated on diseases leading to physical and mental disabilities if left untreated or, in the worse-case scenarios, death. In my opinion, early detection and treatment of these diseases is critical.

Newborn screenings can test for more than 60 disorders. Each state in the U.S. tests differently. For example, newborns in California are screened for 52 disorders and newborns in Arizona, just one state away, are screened for 29. To find the list disorders tested for each state’s Comprehensive Newborn Screening, go to: Saving Babies Through Screening Foundation, Inc. at http://www.savebabies.org/.

Is It Really Necessary?

Some parents may fear any type of medical test during the first few days of their baby’s life, and question whether or not this test is necessary. “Our baby looks good and comes from a healthy family, so why bother with additional tests?” This thinking is understandable because a parent’s goal is to always protect their child; however, not all of the disorders are inherited and not all babies born with disorders will show the signs of sickness at birth.

Rick Weiermiller, a pediatrician and internist-in-practice at Beaumont Hospital, writes, “In general, the reason a test is included in a newborn screening profile is that it is a detectable disease that when intervention, through some form of therapy, is started early in the child’s life a major impact can be made on the child’s health.” One of Dr. Weiermiller’s patients screened positive and was then diagnosed with congenital hypothyroidism. “Without this diagnosis made early, the child would have had severe growth delays and mental retardation,” he says. “Newborn screening done routinely has offered us the ability to intervene at the key point we need to in the child’s life.”

Pediatrician Dr. Alan Greene, author of Raising Baby Green and the upcoming book Feeding Baby Green, says that a positive on the screening test does not mean the baby definitely has a problem. However, a positive screening would result in additional tests to rule out any potential problems. Actor Scott Baio’s daughter tested positive for a life-threatening metabolic disorder during her screening test and it was later determined she did not have a problem. The screening tests can point to potential issues that, if treated immediately, can lessen the likelihood of a major problem in the baby’s future.

My State Screens for Fewer Disorders – What Can I Do?

If you reside in a state that runs considerably fewer tests than other states, it is possible to add supplemental newborn screening tests to cover those that are otherwise not covered. These tests are not always covered by your insurance, so it is important to contact your insurance company for more information.

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