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Neonatal Screening
Lecture 60 (Thursday 01/09/09)
13
Chemistry
Graduate
01/08/2009

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Cards

Term
criteria for disorder selection
Definition
  • relatively "high" incidence
  • treatment available
  • good assay
  • low cost/cost effective
Term
change in paradigm about what to screen
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
Term
examples of screened disorders in maryland
Definition
  • biotinidase deficiency
  • CAH
  • hypothyroidism
  • sickle cell disease
  • PKU
  • homocystinuria
  • MSUD
  • MMA
  • CF
Term
Goal of screening tests
Definition
distinguish those who probably have the disease from those who probably do not have it
Term
qualities of a "good" screening test
Definition
  • accurate
  • reproducible
  • inexpensive
  • non-invasive
  • uses a sensitive, specific indicator
  • high positive predictive value
Term
parameters for assessing screening tests
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
    • positive
    • negative
Term
sensitivity of a screening test
Definition

TRUE POSITIVES

__________________

 

ALL THOSE w/ DISEASE

Term
Specificity of screening test
Definition

TRUE NEGATIVES

__________________

 

ALL THOSE WITHOUT DISEASE

Term
+ PREDICTIVE VALUE OF A SCREENING TEST
Definition

TRUE POSITIVES

 _____________________

 

ALL POSITIVES

Term
- PREDICTIVE VALUE OF A SCREENING TEST
Definition

TRUE NEGATIVES

____________________

 

ALL NEGATIVES

Term
newborn screening process
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
Term
tandem mass spectrometry (MS.MS)
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
Term
informed dissent
Definition
in vast majority of states, parents have to OPT OUT of newborn screening.
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