Genetic Testing Flashcards
What does aneuploid mean?
too many or too few chromosomes
pg. E 75
What does trisomy mean?
presence of an extra chromosome
pg. E 75
What does triploidy mean?
extra set of chromosomes
pg. E 75
When is a nuchal translucency measured?
- 5 - 13.5 weeks
pg. E 76
What is considered an abnormal nuchal translucency measurement?
> 3 mm
pg. E 76
A NT measurement is measured from ___.
inner to inner
pg. E 76
If a fetus has a thickened NT, what can that indicate?
Trisomy 18
Trisomy 21
cardiac abnormalities
pg. E 77
What blood tests are taken in the 1st trimester?
PAPP-A
beta hCG
pg. E 76
What can a high beta hCG indicate?
trophoblastic disease
pg. E 77
What can low beta hCG and PAPP-A levels indicate?
poor implantation or placentation
Trisomy 21
pg. E 77
When and why is chorionic villus sampling performed?
between 9-12 weeks after a thickened NT or abnormal blood tests are indicated
pg. E 77
What screenings are done in the 2nd trimester?
Quad screen
Amniocentesis
pg. E 78
What is included in a Quad screen?
MSAFP hCG unconjugated estriol (uE3) Inhibin-A pg. E 78
When is a quad screen performed?
15-18 weeks
What does an elevated MSAFP indicate?
incorrect dates multiple gestation neural tube defects abdominal wall defects pg. E 78
What does a decreased MSAFP indicate?
incorrect dates
chromosomal abnormalities
fetal demise
pg. E 79
What would a low uE3 indicate?
Trisomy 21
pg. E 79
What does an elevated inhibin-A indicate?
Trisomy 21
pg. E 79
When is an amniocentesis performed?
16 weeks
pg. E 80
What would low amniocentesis lab values indicate?
neural tube defects
pg. E 80
When is a nuchal fold measured?
15-21 weeks
pg. E 142
What is a normal measurement for nuchal fold?
< 6 mm
pg. E 142
What is an abnormal nuchal fold associated with?
Trisomy 21
pg. E 142
How can you check for fetal anemia?
Middle cerebral artery Doppler
How long do PUBS results take to get back?
48 hours
How long do CVS results take to get back?
1 week
How long do amniocentesis results take to get back?
2 weeks
What might cause CA 125 to be elevated?
Ovarian carcinoma Endometrial carcinoma Endometriosis PID Fibroids URR Exam
Fetal lung maturity can be detected in an amniocentesis through which lab value?
Phosphatidyl-glycerol
