Newborn screening is done to test newborns for abnormalities that are not detectable by ordinary observation at birth, conditions called inborn errors of metabolism. Inborn errors of metabolism can lead to the body not being able to digest certain types of proteins, and this can lead to complications that need to be treated medically. These conditions can cause physiological problems, mental retardation, and other forms of abnormalities (Marsden et al. 2006). When a newborn screens positive for a metabolic condition or a birth defect, early diagnosis is essential because early treatment can help alleviate lifelong disability.
Newborn screening is done by obtaining a sample of blood that can be used for laboratory analysis to screen for health conditions (Marsden et al. 2006). Besides metabolic conditions, newborn screening can also detect for endocrine and hematologic disorders.
Every state in the United States varies in regards to the health conditions that are required to be screend for at birth. To see which health conditions your state tests for, please refer to the U.S. National Newborn Screening and Genetics Resource Center website.
There are a few conditions that each state requires every newborn to be tested for. Phenylketonuria (PKU) using the Guthrie test, congenital hypothyroidism, galactosemia, and benign hyperphenylalaninemia are a few of the conditions that are universially tested for in each state.
In nearly every state, the newborn screening program is a division of the state health department. For each newborn, a blood sample is collected at the heel on a filter paper card for the newborn screening. The tests are than sent off to a laboratory that is contracted out by the state health department or to a laboratory that is run by the state health department. Once the blood sample has been tested, and no positive tests were found, the results are sent back via a paper report. If a positive test was found for any of the mandated conditions that the state has to test for, a healthcare worker will contact the physican who is carrying for the child to report the test result. At this point, the child will be seen by a specialist (Newborn Screening Authoring Committee).
The expansion of newborn screening continues, but not without issues about treatment options, effective follow-up, and the possiblity of false positive tests results.
Marsden, Deborah; Larson, Cecilia; Harvey, Levy. Newborn screening for metabolic disorders. The Journal of Pediatrics Volume 148, Issue 5, 2006; 577-584.e5
Newborn Screening Authoring Committee. Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes-Implications for the System. Pediatrics 121:1 192-217 January 2008