Genetic Testing For Ob/GYN

23 Questions | By Agambino | Updated: Mar 21, 2022 | Attempts: 58

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1.

This is an invasive procedure used to draw amniotic fluid from the amniotic sac
2.

Amniocentesis provides detailed information regarding:
- A.
  
  Neural tubal defects
- B.
  
  Fetal health
- C.
  
  Certain congenital and/or genetic abnormalities
- D.
  
  Fetal lung maturity
3.

Risks of amniocentesis include ________ and infection.
4.

If an amniocentesis is being performed to check for lung maturity, it is typically done at ____ weeks.(#)
5.

To rule out congenital, genetic, or infection, amniocentesis is typically performed between ____-___ weeks.
6.

With amniocentesis, ultrasound is used to confirm gestational age, fetal ________, localize adequate fluid pocket, to guide ______ placement, and post scan to evaluate the fetal well being.
7.

On sono, the needle tip appears as a _______ echo.
8.

After the fluid is drawn from an amniocentesis, the amniotic fluid is sent to the laboratory for cell culture and ________, which is a display of chromosome analysis.
9.

With multiple gestations, how do you know you are going into the right sac when performing an amniocentesis?
10.

Who should have an amniocentesis?
- A.
  
  Women 35 and older at time of delivery have increased risk for trisomy 21
- B.
  
  Have history of fetal aneuploidy/chromosomal abnormality
- C.
  
  Associated ethnicity risks
- D.
  
  Abnormal results of MSAFP
11.

_________ is a condition where there are 3 chromosomes instead of the usual pair
12.

Trisomy 21 is:
- A.
  
  Down's syndrome
- B.
  
  Edward syndrome
- C.
  
  Patau's syndrome
13.

Trisomy 18, ________ syndrome and trisomy 13, _______ syndrome, are neither compatible with life and both cause major heart, brain, and kidney defects.
14.

This is a fatal genetic disorder most frequently occurring in individuals of jewish descent.
15.

Tay-Sachs is an accumulation of ______ in the nervous system, which results in destruction of _____ and early childhood death.
16.

MSAFP stands for:
17.

____ is a protein normally produced in fetal liver, present in amniotic fluid.
18.

Decreased levels of AFP are associated with chromosomal abnormalities, such as trisomy 21.
- A.
  
  True
- B.
  
  False
19.

Increased AFP levels are associated with:
- A.
  
  Multiple gestations
- B.
  
  Fetal age is greater than estimated
- C.
  
  Neural tube defects
- D.
  
  Abdominal wall defects
20.

MSAFP is usually done between ___ to ____ weeks gestation.
21.

Check all that apply to MSAFP:
- A.
  
  High rate of false positives
- B.
  
  Doesn't diagnose
- C.
  
  Estimates probability of a problem
- D.
  
  If results are abnormal, decide whether or not to do further testing such as amniocentesis
22.

AFP plus "triple screen" is a more detailed test than AFP alone.
- A.
  
  True
- B.
  
  False
23.

AFP plus "triple screen" tests for _____, ____, and AFP.