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23 Cards in this Set

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amniocentesis technique
Trans-abdominal needle w/ultrasound guidance
*do early enough so that parents can abort in 2nd trimester
-Analysis:
1. Amniotic fluid:
Alpha-fetoprotein or ACHaseID NT defect or body wall defect
2. Amniocytes:
Chrom analysis, metabolic studies, molecular analysis (direct analysis of mutant gene)
how ID NT defect
amniocentesis: analyze amniotic fluid for alpha-fetoprotein or ACHase
how ID body wall defect
amniocentesis: analyze amniotic fluid for alpha-fetoprotein or ACHase
how do chrom analysis
analyze amniocyte
how do metabolic study
amniocentesis (analyze amniocyte) OR CVS
how do moelcular analysis (i.e. direct analyses of mutant gene)?
amniocentesis (analyze amniocyte) or CVS
indications for amniocentesis
***Advanced maternal age (over 35 y/o)
*FH of NT detects

Other:
-can detect mosaicism
amniocentesis: timing
16-20 wks (not before 13 wks)
amniocentesis: accuracy
100% accurate for chromosome problems
amniocentesis: risks
1. spotting (blood)
2. needle stick of fetus
3. infxn
4. leaking of amniotic fluid
5. preg loss
Chorionic Villus Sampling (CVS): technique
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)
CVS: indications
same as amniocentesis, except not for NT defects

thus, advanced maternal age
(>35)
CVS: timing
10-12 wks
CVS: accuracy
contaminate sample with maternal cells
CVS: risk
higher risk of preg loss than amniocentesis
Fetal Blood Sampling,
Cordocentesis, or
PUBS (Percutaneous Umbilical Blood Sampling):

technique
trans-abdominal needle with ultrasound guidance
Fetal Blood Sampling,
Cordocentesis, or
PUBS (Percutaneous Umbilical Blood Sampling):

indications
abnormalities found late in preg
Fetal Blood Sampling,
Cordocentesis, or
PUBS (Percutaneous Umbilical Blood Sampling):

timing
>20 wks
Fetal Blood Sampling,
Cordocentesis, or
PUBS (Percutaneous Umbilical Blood Sampling):

accuracy
if no contamination by mom's blodod, very accurate
Fetal Blood Sampling,
Cordocentesis, or
PUBS (Percutaneous Umbilical Blood Sampling):

risks
preg loss (1%)
Preimplantation Genetic Dx:

indication
in conjunction with IVF:
"To implant or not to implant? That is the question."
Preimplantation Genetic Dx:
accuracy
accuracy unknown,
only based on 1 or a few cells
timing for CVS, amniocentesis, fetal cord sampling (PUBS)
CVS: 10-12 wks
amnio: 16-20 wks
PUBS: >20 wks