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36 Cards in this Set
- Front
- Back
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On a pedigree, how does one notate that an individual's test results are included in the file, or have been verified?
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Asterisk
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What might be indicated by lower than average MCV?
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Iron-deficient anemia, or carrier of alpha- or beta-thalessemia.
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What is the normal MCV range?
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80-97
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Name 4 ways to distinguish thalassemia from anemia?
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Hb electrophoresis
Iron studies DNA studies trials of iron supplementation |
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How can you recognize a beta=thal carrier on CBC testing?
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low MCV, low MCH, low hemoglobin
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How would you recognize an alpha-thal carrier on CBC?
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same as beta-thal carriers-low MCV, low MCH, low hemoglobin
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If a patient has low MCV on CBC, but normal Hb electrophoresis, what could this indicate?
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Either iron-deficient anemia or alpha-thalassemia.
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What is TIBC and what is measured?
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Total iron-binding capacity-measures transferrin
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How does maternal AFP change with diabetes?
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AFP is 40% lower in diabetics
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What to do if maternal AFP is high?
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Confirm gestational age with u/s, consider repeat if less that 3 MoM, consider amnio
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For an alpha-thal carrier, what would be seen on ferritin sudies?
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High ferritin (because high levels of iron, unlike anemia)
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How does AFP differ among ethnicities?
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African Amer is 10% higher than Europeans and Asians
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If maternal AFP is high, and amnio shows high AF-AFP, then what?
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Test acetylcholinesterase--if positive, suggests open neural tube defect
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For an alpha-thal carrier, what is seen on TIBC?
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Total iron binding capacity measures transferrin, which is low (inverse of iron present)
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What is the relationship between AFP and Down syndrome?
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median AFP for moms of Down syndrome fetuses is 0.8 MoM
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WHat ethinic group is high risk for alpha-thal? low risk?
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high in Asians, low in Africans
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Which AA is mutated in sickle cell and HbC?
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The 6th AA in beta globin--should be glutamic acid
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How does estriol differ in Downs pregnancies?
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25% lower in Downs
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When do Rh- women need to have injections of RhoGam?
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within 72 hours of exposure
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What is hemoglobin A1c and what does it indicate?
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Glycosylated hemoglobin--indicates blood sugar control in diabetics, reflects average amt of glucose in blood over past 2-3 months
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Ideal level for Hemoglobin A1C
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Less than 6%
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Where is the risk of neural tube defects the highest?
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Northern Ireland, Wales, Scotland (1%)
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What % of Down cases are detectted with triple screen?
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60%, 5% false positive rate
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Quad screen increased Down detection to what?
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75%
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If the gestational age is earlier that expected, what will the results of the Quad screen mimic?
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Down syndrome (low AFP, low uE3, high hCG, high inhibin)
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What will quad screen look like if twins are present?
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all high
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choroid plexus cysts can indicate what?
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Down or tri18
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What % of Down cases go undetected, even with screening?
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25%
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What is measured in 1st trimester Down screening?
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nuchal translucency, free beta hCG, PAPP-A plus maternal age
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HOw is PAPP-A different In Down cases?
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60% lower in Down
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When is 1st trimester screening done?
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10-14 weeks
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Detection rate in 1st trimester screening alone (free beta hCG, PAPP-A, nuchal, age)?
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62%
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Describe the sequential screen (integrated screening)
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1st trimester--nuchal translucency/PAPP-A; then, 2nd trimester hCG, estriol, AFP, inhibin-A , include maternal age and gestational age. results only at end
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Detection rate of sequential screen
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94%
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2 conditions that can be associated with low estriol
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Smith-Lemil-Opitz, X-linked icthyosis
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What is the recurrence risk for a pseudodominant condition?
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50% risk, because it's coming form mult. places
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