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23 Cards in this Set
- Front
- Back
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amniocentesis technique
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Trans-abdominal needle w/ultrasound guidance
*do early enough so that parents can abort in 2nd trimester -Analysis: 1. Amniotic fluid: Alpha-fetoprotein or ACHaseID NT defect or body wall defect 2. Amniocytes: Chrom analysis, metabolic studies, molecular analysis (direct analysis of mutant gene) |
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how ID NT defect
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amniocentesis: analyze amniotic fluid for alpha-fetoprotein or ACHase
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how ID body wall defect
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amniocentesis: analyze amniotic fluid for alpha-fetoprotein or ACHase
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how do chrom analysis
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analyze amniocyte
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how do metabolic study
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amniocentesis (analyze amniocyte) OR CVS
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how do moelcular analysis (i.e. direct analyses of mutant gene)?
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amniocentesis (analyze amniocyte) or CVS
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indications for amniocentesis
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***Advanced maternal age (over 35 y/o)
*FH of NT detects Other: -can detect mosaicism |
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amniocentesis: timing
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16-20 wks (not before 13 wks)
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amniocentesis: accuracy
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100% accurate for chromosome problems
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amniocentesis: risks
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1. spotting (blood)
2. needle stick of fetus 3. infxn 4. leaking of amniotic fluid 5. preg loss |
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Chorionic Villus Sampling (CVS): technique
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Trans-cervical biopsy of chorionic villi with ultrasound guidance
Analysis: -no analysis of alpha-fetoprotein or ACHase b/.c CVS cannot detech NT defects -Chrom analysis, metabolic studies, molecular analysis (direct analysis of mutant gene) |
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CVS: indications
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same as amniocentesis, except not for NT defects
thus, advanced maternal age (>35) |
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CVS: timing
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10-12 wks
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CVS: accuracy
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contaminate sample with maternal cells
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CVS: risk
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higher risk of preg loss than amniocentesis
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Fetal Blood Sampling,
Cordocentesis, or PUBS (Percutaneous Umbilical Blood Sampling): technique |
trans-abdominal needle with ultrasound guidance
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Fetal Blood Sampling,
Cordocentesis, or PUBS (Percutaneous Umbilical Blood Sampling): indications |
abnormalities found late in preg
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Fetal Blood Sampling,
Cordocentesis, or PUBS (Percutaneous Umbilical Blood Sampling): timing |
>20 wks
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Fetal Blood Sampling,
Cordocentesis, or PUBS (Percutaneous Umbilical Blood Sampling): accuracy |
if no contamination by mom's blodod, very accurate
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Fetal Blood Sampling,
Cordocentesis, or PUBS (Percutaneous Umbilical Blood Sampling): risks |
preg loss (1%)
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Preimplantation Genetic Dx:
indication |
in conjunction with IVF:
"To implant or not to implant? That is the question." |
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Preimplantation Genetic Dx:
accuracy |
accuracy unknown,
only based on 1 or a few cells |
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timing for CVS, amniocentesis, fetal cord sampling (PUBS)
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CVS: 10-12 wks
amnio: 16-20 wks PUBS: >20 wks |
