Term
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Definition
| is a system of care including parent education, specimen collection, laboratory analysis, follow up of "not normal" results, definitive diagnostic evaluation, treatment and long term management and program evaluation |
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Term
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Definition
How good is the test at picking out those with disease
TP/ TP+ FN |
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Term
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Definition
How good is the test at picking out those without the disease
TN/ TN+FP |
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Term
| Positive Predicitive Value |
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Definition
How likely is a patient with a positive test to have a disease?
TP/ TP+ FP |
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Term
| Negative Predictive Value |
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Definition
How likely is a patient with a negative test to really not have disease?
TN/ FN+ TN |
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Term
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Definition
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Term
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Definition
| does the test measure the indicator analyte accurately |
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Term
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Definition
| Is there a good correlation between the indicator analyte and the disease? |
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Term
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Definition
| Does identifying the disorder lead to improve outcome |
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Term
| History of Newborn Screening |
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Definition
Prior time each disorder required a separate assay which gave information only about that disorder
1990s(MS.MS) available
could potentially identify new groups of disorders but it is a multiplex tech, which provides information about whole groups of disorders at once, some that didn't meet criteria for screening
what to do with that information?
HRSA developed a uniform panel of conditions to be screened and to develop a tool for assessing conditions for screening
recommended following up all the core conditions and reporting all secondary targets and any other results possibly indicative of clinically significant conditions |
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Term
| Tandem Mass Spectrometry (MS.MS) |
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Definition
good for sorting and quantitating molecules with a common fragment
amino acid profile used to detect amino acid disorders, some organic acidurias, and urea cycle disorders
acylcarnitine profile used to detect organic acidurias and fatty acid oxidation defects |
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Term
| MS. MS amino acid analysis procedure |
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Definition
1st Mass Spectrometer- mixture of precursor ions: scan ions of each MW
Collision Cell: fragment each ion: each ion looses the carboxy end of the aa
2nd Mass Spectrometer: scan each ion in order of MW
Detector/ Computer: compare scans, quantitate those ions that have lost a common neutral mass |
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Term
| Acylcarnitine MS. MS procedure |
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Definition
1st Mass Spectrometer: mixture of precursor ions: scan ions of each MW
Collision Cell: fragment each ion: each ion releases a common fragment of carnitine which has a m/z of 85 for butyl esters
2nd Mass Spect: transmits only the selected m/z
detector: compare scans, quantitate only those precursor ions that give rise to the common m/z= 85 fragment |
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Term
| Medium Chain Co-A Acyl-Dehydrogenase Deficiency |
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Definition
1:15,000 N Europeans
25-50% fatailty rate
Rx: avoid fasting, +/- carnitine
requires Tandem MAss Spec for screening |
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Term
| Newborn Screening Process |
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Definition
1. provide parents with educational materials and answer q
2. specimen collected by hospital after 24 hrs of milk feedings, let air dry
3. send to state lab by courier within 24 hrs
4. specimen is analyzed by state lab
5.abnormal results are reported immediately to the follow up unit. The follow up unit notifies the PCP, hospital and sometimes the parents immediately by telephone
6.Diagnostic work up must be done
7. If the baby is affected, treatment is initiated and the baby if followed by the tertiary care center in consutation with the PCP over the long term
8. to assure optimal outcome, information must be freely shared between all medical professionals caring for the baby including the NBS program. excempt from HIPAA |
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Term
| Critical Congenital Heart Disease |
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Definition
will be on NBS panel july 1st 2012
Affects 25% of the 1% Nb born with Congential heart
can appear healthy and be sent home then go into cardiac arrest at home
detection done by pulse oximetry to determine how much oxygen in blood. low oxy can be a sign of cogenital heart diesase and 60% of cases can be detected
noninvasive |
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