Newborn Screening for Metabolic and Sickle Cell Disorders Program

Limitations of Screening

The purpose of a screening test is to sort out apparently healthy individuals who have a disease from those who do not. However, screening programs are, by nature, imperfect. In setting cutoffs, a balance must be struck between time, money, anxiety caused by false positives, and, unfortunately, an acceptable number of missed cases.

Biological variability and/or human error can result in missed cases. Transfusions can lead to false negative results. Errors can occur at the specimen collection site, when the specimens are in transit, at the laboratory, in computer processing of results, and/or in the reporting process.

The Georgia Newborn Screening Program has educational and monitoring mechanisms in place to prevent and investigate any possible problems. However, it is still critical for health care providers to remain watchful for any signs or symptoms of these disorders in their patients. Any signs or symptoms of a disorder should be followed up immediately. The possibility of a disorder should not be ruled out solely based on the newborn screening test result. A newborn screening result should not be considered diagnostic, and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable healthcare provider. If a baby’s diagnosis was delayed because of a normal newborn screening result, the State will investigate the case to determine if changes in policies or procedures are necessary.

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