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11 Cards in this Set
- Front
- Back
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What are some risk factors for aneuploidy?
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- maternal age
- prior aneuploidy - multiple prior spontaneous abortions - prior unexplained stillbirth would identify <20% |
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What is the point of amniocentesis?
- timing? - risk? |
can do biochemical, PCR, DNA testing on amniotic fluid.
- b/t wks 14-20 - 1:400 of pregnancy loss - |
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What is CVS?
- risk? - use? |
Chorionic villus sampling: needle thru vagina or abdominal wall to sample placenta.
- lower risk than background - karyotype and DNA, PCR for infection on specimens only |
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What is the modern utility of cordocentesis? why?
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sampling fetal blood: intrauterine transfusion, fetal blood count.
- 1-2% risk of loss w/ normal fetuses |
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What fetal cells can be tested in maternal circulation? (3)
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Rh status
Can pick up aneuploid cells nucleated RBCs can stay in maternal circulation for years. |
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What screenings are done in the 1st tri? Definitive?
2nd tri screen? definitive? |
"First screen"
US; CVS "Second / Maternal Serum Screen" US; Amnio/Cordo |
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Who should you target for serum screening strategies?
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those at really high risk for invasive testing.
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What can be detected by serum screening in the 2nd tri?
1st tri? |
Open fetal defects
Tri21, Tri18 IUGR, Preterm, Fetal demise Tri21, Tri18 Fetal Demise, IUGR Cardiac Thoracic disorders |
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What is the detection rate for tri21 in the first tri screening? Tri18? [these are both serum screens]
What do you look for on US? What will PAPP-A and B-HCG lvls do in each case? Do these screens pick up NTDs (neural tube defects)? |
80%, 90%
Nuchal translucency. Tri21: \PAPP-A, ^B-HCG Tri18: \, \ No. |
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Which is more sensitive for Tri21 @ the 2nd trimester screening, triple or quad screen?
What % of aneuploid fetuses will have US markers? |
quad 70%>60%
50% |
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What is PGD?
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Preimplantation Genetic Diagnosis
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