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The Purpose of Newborn Screening
There are a number of potentially devastating diseases that can be present in a newborn but hidden at the time of birth. These diseases, if undetected by newborn screening, have the potential to cause medical problems as the baby grows, and severely alter a life that could have otherwise been normal. One example of such an illness is phenylketonuria (PKU).
PKU is a condition in which the body is unable to break down a building block of protein (an amino acid) known as phenylalanine (Phe) because a specific enzyme is lacking or present in levels too low to be effective. When this amino acid builds up in the system it can cause problems with the central nervous system, brain damage, and mental retardation.
On the other hand, when the PKU is discovered through newborn screening, a child can be treated using a low protein diet and special medical foods designed to deal limit the amount of Phe consumed. In most cases this allows the baby to grow up normally, enjoying a life free of mental retardation and central nervous system issues.
Other Disorders Discovered by Screening
While PKU was the first disease to be screened for in newborns, there are other diseases equally as serious that are now included as part of the testing. State regulations, however, vary so that some states require screening for the federally-recommended panel of 30 disorders while others screen for up to 50 conditions. The mission of Save Babies Through Screening, Inc. has been to encourage all states to include at least the 30 diseases now considered standard for newborn screening. Save Babies is now working to support research and addition of new screening tests to the recommended panel, and to encourage all states to screen for any condition for which there is a proven screening test and established benefit from early diagnosis for t he patient and family.
Examples of some of the disorders that are included in the recommended panel are medium-chain acyl-CoA dehydrogenase deficiency (MCADD), cystic fibrosis (CF), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and congenital deafness (HEAR). More information about these conditions can be found at www.savebabies.org.
Source: 2019 National Health Observances, National Health Information Center, Office of Disease Prevention and Health Promotion, U.S. Department of Health and Human Services, Washington, DC.