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Newborn Screening Glossary


false-negative screening result

screen-negative result in an affected newborn

Project: NBS09

NOTE 1: A screen-negative result indicating that an individual is not at increased risk for the primary target disease when the individual is found later to be affected; NOTE 2: As used in NBS09, a screen-negative result of a laboratory screening algorithm (based on the detected C26:0-lysophosphatidylcholine concentration below the cutoff) reported for a newborn later diagnosed with adrenoleukodystrophy; NOTE 3: See primary target disease.


false-positive screening result

screen-positive result in an unaffected newborn

Project: NBS09

NOTE 1: A screen-positive result indicating that an individual is at increased risk for a target disease when the individual is found later to be unaffected; NOTE 2: As used in NBS09, a screen-positive result of a laboratory screening algorithm (based on the detected C26:0-lysophosphatidylcholine concentration above the cutoff) reported for a newborn who does not have adrenoleukodystrophy; NOTE 3: See primary target disease.


laboratory screening algorithm

documented process for conducting laboratory-based screening tests using a sequence of specified steps to determine the need for subsequent screening steps or actions and/or the final reportable screening result and interpretation

Project: NBS06, NBS09


primary target disease

a disease, disease form, or phenotype that the newborn screening test is designed to detect

Project: NBS06, NBS09, NBS07

NOTE 1: Primary target diseases typically meet the following minimum criteria: the disease can be identified by newborn screening of most affected newborns before clinical presentation; a suitable screening test is available; and the benefits of early detection and intervention, as well as efficacious treatments for the disease, have been documented (US Department of Health and Human Services, Advisory Committee on Heritable Disorders in Newborns and Children. Recommended US Screening Panel. https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html); NOTE 2: Target diseases may also be referred to as target conditions or target disorders; NOTE 3: See secondary target disease.


re-collection

collection of another blood spot specimen from the same patient, due to an unacceptable initial specimen or in response to an “out-of-range” initial screening test result

Project: NBS01, NBS09

NOTE: Some newborn screening programs are mandated to collect second and third specimens from all patients, which is different from re-collection.


repeat screening (requested)

any subsequent screening test(s) performed on an additional requested specimen that was collected because the previous screening specimen had an out-of-range result or was deemed unacceptable for testing

Project: NBS02


screen negative

a final, reportable result for a disease or group of diseases based on the newborn screening test result(s) and screening algorithm, indicating low risk of that disease or group of diseases and no need for additional follow-up

Project: NBS06, NBS09

NOTE: Also referred to as a “negative screening result.”


screen positive

a final, reportable result for a disease or group of diseases based on the newborn screening test result(s) and screening algorithm, indicating higher risk of that disease or group of diseases and the need for additional follow-up

Project: NBS06, NBS09

NOTE 1: An out-of-range screening test result may not be equivalent to a final screen-positive result when more than one screening test (eg, both a first-tier and second-tier test) is used in a screening algorithm to determine the final, reportable result; NOTE 2: A final screen-positive result may result in either the need for additional clinical follow-up or the need for a repeat specimen in cases in which a program considers borderline results to indicate a “possible” disease vs a “probable” disease; NOTE 3: See re-collection.


screen results

  • false-negative screening result – screen-negative result in an affected newborn; NOTE: A screen-negative result indicating that an individual is not at increased risk for the primary target disease when the individual is found later to be affected.
  • false-positive screening result – screen-positive result in an unaffected newborn; NOTE: A screen-positive result indicating that an individual is at increased risk for a target disease when the individual is found later to be unaffected.
  • screen inconclusive – a final, reportable result based on the newborn screening program’s test result(s) and reporting algorithm for a screened disease, indicating the inability to accurately interpret the screening result, typically resulting in a request for a repeat dried blood spot specimen; NOTE: See repeat screening (requested).
  • screen negative – a final, reportable result for a disease, group of diseases, or phenotypic difference based on the newborn screening test result(s) and algorithm, indicating that the risk of that disease, group of diseases, or phenotypic difference is low and that no additional newborn screening follow-up is needed; NOTE: Also referred to as a “negative screening result.”
  • screen positive – a final, reportable result for a disease, group of diseases, or phenotypic difference based on the newborn screening test result(s) and algorithm, indicating that the risk of that disease, group of diseases, or phenotypic difference is higher and that additional clinical follow-up is needed; NOTE 1: An out-of-range result may not be equivalent to a screen-positive result when more than one screening test (eg, both a first-tier test and a second-tier test) is used in a screening algorithm to determine the final, reportable result interpretation; NOTE 2: Individual newborn screening programs may use differing definitions of the term “screen positive” internally (eg, they may include results indicating both the need for additional clinical follow-up and the need to request a repeat newborn screening specimen); however, using a consistent definition of “screen positive” across programs enables consistent comparison of screening metrics; NOTE 3: Also referred to as a “positive screening result” or a “presumptive positive result”; NOTE 4: See repeat screening (requested).
  • true-negative screening result – screen-negative result in an unaffected newborn.
  • true-positive screening result – screen-positive result in an affected newborn.

Project: NBS02


secondary target disease

a disease form or a specific phenotype of the primary target disease or a different disease altogether that may be detected during the process of screening for a primary target disease

Project: NBS09

NOTE 1: Secondary target diseases typically do not meet all of the criteria of a primary target disease; NOTE 2: Secondary target diseases often have clinical manifestations that, if diagnosed, can be ameliorated with treatment; however, it is not the aim of the newborn screening program to detect these diseases; NOTE 3: Target diseases may also be referred to as target conditions or target disorders; NOTE 4: See primary target disease.


 

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