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First Trimester Screening For Chromosomal And Structural Malformations


1. The discrepancies in reported detection rates for chromosomal abnormalities with a thickened nuchal translucency is due to:

   1. Variable gestational ages at examination
   2. Measurement technique
   3. Level of sonographic training

a. 1

b. 2 and 3

c. All of the above

2. The detection rate for Down syndrome with 1st trimester serum analytes alone is:

a. 50%

b. 60%

c. 70%

d. 80%

e. 90%

3. Possible etiologies for a thickened nuchal translucency include (select all that apply):

   1. Hyperproteinemia
   2. Venous congestion
   3. Posterior urethral valves
   4. Abnormal cardiac structure

a. 3

b. 3 and 4

c. 1 and 2

d. 2 and 4

4. The selection of a single cut-off for a thickened nuchal translucency decreases the false negative rate at earlier gestational age and decreases the false positive rate later in the 1st trimester.

a. True

b. False


5. A combination of fetal nuchal translucency with maternal serum PAPP-A and b-hCG has a detection rate of __________ for trisomies 21, 18 and 13.

a. 75%

b. 80%

c. 85%

d. 90%

e. 95%

6. The resolution of a thickened nuchal translucency as gestation advances indicates that the fetus is not affected by a karyotypic abnormality.

a. True

b. False

 

7.  Which of the following are required for nuchal translucency measurement:

  1. Crown-rump length between 35 mm and 90 mm.
  2. The fetus is imaged in a mid-sagittal plane with the head in a neutral position.
  3. The fetal head and chest should be enlarged to 75% of the screen.
  4. The calipers are placed on the outer borders of the nuchal translucency and perpendicular to the long axis of the fetal body.

a. 1 and 3

b. 2 and 3

c. 3 and 4

d. 1, 3, and 4

 

8. As the nuchal translucency increases in chromosomally normal fetuses the risk of all of the following complications are increased except:

a. Miscarriage

b. Intrauterine death

c. Cardiac defects

d. Macrosomia

e. Postnatal demise

9. Which of the following statements about evaluation of a ductus venosus in the 1st trimester are correct?

    1. An abnormal ductal pattern increases the risk of aneuploidy 10-fold.
    2. An abnormal ductal pattern increases the false positive rate of a thickened nuchal translucency in the prediction of aneuploidy.
    3. Overlapping from adjoining vessels makes interpretation of the ductal waveform difficult.

a. 1

b. 3

c. 1 and 3

d. All of the above

10. Which of the following statements about assessment of the nasal bone in the 1st trimester is correct?

a. The assessment of the nasal bone reduces the false positive rate of a 1st trimester genetic screen.

b. Ethnicity plays a role in the prevalence of an absent nasal bone in the 1st trimester.

c. Maternal body mass index does not affect nasal bone imaging.

d. The false positive rate of an absent nasal bone is higher at 11, in contrast to 13, weeks.

 


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