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An additional 25 conditions were listed that could be identified in the course of screening for core panel conditions.
Other conditions were moved from the "not appropriate for newborn screening category" to secondary targets if they were revealed by the multiplex technology used to identify core panel conditions.
It is recognized that screening may not have been maximized for the detection of these secondary conditions but that some proportion of such cases may be found among those screened for core panel conditions.
Mandate screening for all core panel conditions defined by this report; Mandate reporting of all secondary target conditions defined by this report and of any abnormal results that may be associated with clinically significant conditions.
Regardless of whether programs choose to integrate all such conditions into their broader newborn screening programs, it will be important for them to have the diagnostic confirmatory results for all such cases, since they have a direct impact on the calculation of false-positive rates of screening for the core panel conditions.
The expert group recommends that State newborn screening programs: Mandate screening for all core panel conditions defined by this report; Mandate reporting of all secondary target conditions defined by this report and of any abnormal results that may be associated with clinically significant conditions.
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If it is not part of the differential of another core panel condition, the condition would not be considered appropriate for newborn screening at this time.
On the basis of this information, conditions were assigned to one of three categories as described above: Core Panel; Secondary Targets (conditions that are part of the differential diagnosis of a core panel condition).; and Not Appropriate for Newborn Screening (either no newborn screening test is available or there is poor performance with regard to multiple other evaluation criteria).
The categories were core panel, secondary targets (conditions that are part of the differential diagnosis of a core panel condition), and not appropriate for newborn screening (either no newborn screening test is available or there is poor performance with regard to multiple other evaluation criteria).
The categories were referred to as: 1) the core panel; 2) secondary targets (conditions that are part of the differential diagnosis of a core panel condition); and 3) not appropriate for newborn screening (either no newborn screening test is available or there is poor performance with regard to multiple other evaluation criteria).
On the basis of the evidence, 6 of the 35 conditions placed initially in the core panel were moved into the secondary target category, which expanded to 25 conditions that are part of the differential diagnosis of a core panel condition.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com