Procedures
Medical Genetics
Screening Prenatal Tests
Chromosomal Abnormalities
Trisomies
100
Where is the optimal site to collect amniotic fluid during an amniocentesis?
a. Near maternal midline
b. Near the placenta
c. Near the head of the fetus
d. RUQ
a. Near maternal midline
100
How many chromosomes does the normal karyotype consist of?
a. 42 chromosomes
b. 23 chromosomes
c. 46 chromosomes
d. 48 chromosomes
c. 46 chromosomes
100
AFP is first produced by the ______ _____ and then the ____ ____
a. Yolk sac, fetal kidneys
b. Yolk sac, fetal liver
c. Yolk sac, umbilical cord
d. Fetal kidneys, umbilical cord
b. Yolk sac, fetal liver
100
Most common chromosomal disorder
a. Trisomy 21
b. Trisomy 13
c. Trisomy 18
d. Patau Syndrome
Trisomy 21/Down Syndrome
100
What trisomy/syndrome is this abnormality associated with?
a. Patau syndrome
b. Trisomy 21
c. Edward's syndome
d. Turner syndrome
d. Turner Syndrome
200
What are the 2 advantages to Chorionic Villus Sampling over an Amniocentesis?
a. Performed early in pregnancy (10-14 weeks) and results available within 2 weeks
b. Performed early in pregnancy (5-8 weeks) and results available within 1 week
c. Performed early in pregnancy (10-14 weeks) and results available within 1 week
Performed early in pregnancy (10-14 weeks)
Results available within 1 week
200
The cause of trisomy is usually ______
a. Nondisjunction
b. unpredicatable
c. Fusion
a. Nondisjunction
200
Frequent cause of high MSAFP level
a. Placental insufficiency
b. Breech position
c. Fetal distress
d. Fetal death
d. Fetal death
200
Trisomy 18 is also known as
a. Down Syndrome
b. Patau Syndrome
c. Turner Syndrome
d. Edward's Syndrome
d. Edwards' Syndrome
200
An absent nasal bone is a sonographic finding with what trisomy?
a. Down syndrome
b. Patau Syndromec. Turner syndrome
d. Edward's syndromea. Trisomy 21/Down Syndrome
300
What is the technique for multiple gestations during an amniocentesis?
a. Determine which sac has more fluid and take the sample from that sac
b. Only one sample is needed from one fetus
c. 3 samples taken total
d. A sample is taken from each fetal sac entered
D. A sample is taken from each fetal sac entered
300
Caused by a pair of defective genes
- 1 inherited from each parent
a. Autosomal recessive disorder
b. Autosomal dominant disorder
c. X-linked
a. Autosomal recessive disorder
300
The quadruple screen combines what 4 serum markers?
a. hCG, AFP, ALT, lipase
b. AFP, hCG, unconjugated estriol, inhibin-A
c. hCG, inhibin-A, unconjugated estriol, WBC
b. AFP, hCG, Unconjugated estriol, Inhibin-A
300
What trisomy has these characteristics?
a. Trisomy 13
b. Turner Syndrome
c. Trisomy 21
d. Trisomy 18
Trisomy 13 or Patau's Syndrome
300
What is this image depicting and what is the trisomy associated with it?
a. Clenched hands, Trisomy 18
b. Clenched hands, Trisomy 21
c. Absent fingers, Trisomy 21
d. Clenched hands, Trisomy 13
Clenched hands, Trisomy 18/Edwards Syndrome
400
What type of procedure is being performed here?
a. Amniocentesis
b. Chorionic Villus Sampling
c. Cordocentesis
c. Cordocentesis
400
What is this chart an example of
a. Autosomal dominant inheritance
b. Autosomal recessive inheritance
c. X-linked
b. Autosomal recessive inheritance
400
Normal or abnormal nuchal translucency?
a. Normal
b. Abnormal
c. Need more information
d. Normal for gestational age
b. Abnormal
400
With Trisomy 21, the femurs may be shortened to around what percentile?
a. <5th
b. <10th
c. <15th
d. <8th
a. <5th percentile
400
What trisomy is depicted here?
a. Trisomy 18
b. Trisomy 21
c. Trisomy 13
c. Trisomy 13/Patau Syndrome
500
What dye is injected with a multiple gestation amniocentesis to ensure that both sacs have been sampled?
a. White carmine dye
b. Indigo carmine dye
c. Maroon carmine dye
d. Teal carmine dye
b. Indigo carmine dye
500
What gene mutation pattern does this represent?
a. Chromosomal puzzle configuration
b. Chromosomal dominance
c. Chromosomal mosaicism
d. Chromosomal gridlock
Chromosomal mosaicism
500
When is cell-free DNA sampled?
a. At or greater than 8 weeksb. At or greater than 10 weeks
c. At or greater than 6 weeks
d. At or greater than 7 weeks
b. At or greater than 10 weeks
500
These characteristics align with which Trisomy/syndrome?
a. Turner Syndrome
b. Patau Syndrome
c. Trisomy 18
d. Trisomy 21
a. Turner Syndrome
500
This ultrasound is depicting what 2 abnormalities of the hand? What trisomy is it associated with?
a. Hyperplasia of the middle phalanx and Clinodactyly, Trisomy 21/Down Syndrome
b. Hypoplasia of the middle phalanx and Clinodactyly, Trisomy 21/Down Syndrome
c. Hypoplasia of the middle phalanx and Clinodactyly, Trisomy 18/Edward's Syndrome
b. Hypoplasia of the middle phalanx and Clinodactyly, Trisomy 21/Down Syndrome