Term
| criteria for disorder selection |
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Definition
- relatively "high" incidence
- treatment available
- good assay
- low cost/cost effective
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Term
| change in paradigm about what to screen |
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Definition
screen only for what was treatable was philosophy until very recently with advent of technology that enables detection of many conditions for which there are no cures, thinking is changing; detection allows increases demand more research into that disease and opens opportunity for genetic counseling for the family
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Term
| examples of screened disorders in maryland |
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Definition
- biotinidase deficiency
- CAH
- hypothyroidism
- sickle cell disease
- PKU
- homocystinuria
- MSUD
- MMA
- CF
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Term
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Definition
distinguish those who probably have the disease from those who probably do not have it |
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Term
| qualities of a "good" screening test |
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Definition
- accurate
- reproducible
- inexpensive
- non-invasive
- uses a sensitive, specific indicator
- high positive predictive value
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Term
| parameters for assessing screening tests |
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Definition
- sensitivity: how well can it predict positives
- specificity: how well can it predict negatives
- predictive value: frequency of accuracy in positive or negative test results
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Term
| sensitivity of a screening test |
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Definition
TRUE POSITIVES __________________ ALL THOSE w/ DISEASE |
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Term
| Specificity of screening test |
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Definition
TRUE NEGATIVES __________________ ALL THOSE WITHOUT DISEASE |
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Term
| + PREDICTIVE VALUE OF A SCREENING TEST |
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Definition
TRUE POSITIVES _____________________ ALL POSITIVES |
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Term
| - PREDICTIVE VALUE OF A SCREENING TEST |
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Definition
TRUE NEGATIVES ____________________ ALL NEGATIVES |
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Term
| newborn screening process |
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Definition
- voluntary (refusal must be documented)
- specimen collected after 24 hrs of breastfeeding
- very short post-partum stays (<24hrs) interfer with screening's accuracy for many disorders; increases markedly with slightly older newborns
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Term
| tandem mass spectrometry (MS.MS) |
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Definition
multiplex testing technology that can provide information on a range of disorders at once urea cycle disorders organic acidurias fatty acid oxidation disorders (MCAD actually requires this type of test for detection) good technique for sorting and quantitating molecules that contain a comon fragment
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Term
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Definition
in vast majority of states, parents have to OPT OUT of newborn screening.
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