Newborn Screening Guidelines for the Critically Ill Infant

The use of mass spectrometry in newborn screening has made possible the early diagnosis of various metabolic diseases. However, because aminoglycosides, blood transfusions, nothing by mouth status, and the presence of heparinized solutions all affect the results of newborn screens, neonates in critical care units who receive such treatments ought to be screened under specific practice guidelines. Many of the devastating sequelae of metabolic diseases are preventable if diagnosed early, making the development of such practice guidelines for use in the NICU especially important.

Additionally, no standardized practice guidelines presently exist for determining who, whether birth hospital or primary care provider, is responsible for notifying the parent of a positive result and thus ensuring invaluable follow-up care. Such standardized guidelines for screening practice are needed to prevent devastating neurologic sequelae for children whose condition may otherwise escape unaddressed. Newborn screening guidelines developed at Johns Hopkins Hospital and Memorial Regional Hospital provide a helpful starting point.